NOM Michel, Jean-Jacques VEKEMANS MD, PhD,...

NOM Michel, Jean-Jacques VEKEMANS MD, PhD, FCCMG, FACMG, FRCPC

Date de naissance 1er décembre 1948, Anvers, Belgique

Adresse Service de Cytogénétique et d’Embryologie Hôpital Necker-Enfants Malades 149, rue de Sèvres 75743 Paris Cedex 15 Tél : (33) 1 44 49 49 81 Fax : (33) 1 44 49 04 17 E-mail : [email protected]

Nationalité Belge, Canadien

Langues Ecrites et parlées : Français, Anglais, Néerlandais

DIPLÔMES

1970 BM, Cum Laude, Facultés Universitaires de Namur, Belgique

1974 MD, Cum Laude, Université Catholique de Louvain, Louvain, Belgique

1981 PhD (Genetics and Teratology), Summa Cum Laude, McGill University, Montreal, Canada Directeur de Thèse : Professeur FC Fraser

1983 FCCMG, Fellow of the Canadian College of Medical GeneticsFACMG, Fellow of the American College of Medical Genetics

1988FRCPC, Fellow of the Royal College of Physicians and Surgeons of Canada

1991 HDR, Habilitation à Diriger des Recherches , Université Paris Descartes, France

DISTINCTION HONORIFIQUE

C.V. - Michel Vekemans 7/20/13 page 1 /39

mailto:[email protected]

mailto:[email protected]

DEAN’S HONOURS LIST, McGILL UNIVERSITY

MEDICAL SCIENTIST OF THE ROYAL COLLEGE OF CANANA

FORMATION POST DOCTORALE

1976-1978 Fellowship from the Medical Research of Canada McGill University, Montreal, Canada.

FONCTIONS UNIVERSITAIRES

McGill University, Montreal, Canada (1978-1991)

-1984Assistant Professor, Biology, Pathology, Pediatrics,McGill University, Montreal, Canada

1985-1989 Associate Professor, Biology, Pathology, Pediatrics,McGill University, Montreal, Canada

1990-1991 Full Professor, Biology, Pathology, Pediatrics, McGill University, Montreal, Canada

Université Paris Descartes, Paris, France (depuis 1992)

Professeur des Universités Université Paris Descartes, Paris, France.

FONCTIONS HOSPITALIERES

1978-1991 Director, Division of Cytogenetics, Montreal Children's Hospital, Montreal, Canada (3000 specimens/year)

1983-1991 Director, McGill Prenatal Diagnosis Program, Montreal Children’s Hospital, Montreal, Canada (2000 patients/year)

1992 - Médecin des Hôpitaux - Chef du Service de Cytogénétique et d’Embryologie, Hôpital Necker-Enfants Malades, Paris, France


2003-2006 Directeur de la Fédération de Biologie, Hôpital Necker-Enfants Malades

2006 Chef du Pôle de Biologie et Produits de Santé Hôpital Necker-Enfants Malades

ENSEIGNEMENT

McGill University , Montreal, Canada (de 1978 à 1991 ) -Faculty of Science :

. Human Cytogenetics . Developmental Genetics . Human Genetics - Faculty of Medicine : . Medical Genetics . Genetics and Obstetrics/Gyneacology . Genetics and Pediatrics . Genetics and Pathology

Université Paris Descartes, Paris, France (depuis 1992 )

- Faculté de Médecine : . Histologie . Embryologie . Cytogénétique . Génétique . Parcours Sciences et Recherche Fondamentale

. Master Santé-Parcours Génétique - UE3 de Génétique Chromosomique.

- Autres enseignements :

Diplôme d’Etudes Spécialisées de Biologie Médicale - Spécialité Génétique - Ile de France Diplôme d’Etudes Spécialisées Complémentaires - Cytogénétique Humaine- Ile de France.


SOCIETES SAVANTES

1979 Teratology Society 1979 American Society of Human Genetics 1993 European Society of Human Genetics

COMITE EDITORIAL

- Clinical Genetics - Birth Defects Research

PUBLICATIONS

1 Deltombe M., Lenoir F., Vandenhaute J. and Vekemans M., Manuel d'exercices pratiques de physiologie cellulaire. Facultés Universitaires N.D. de la Paix, 1975

2 Lenoir F., Vekemans M., Deltombe M.C., and Vandenhaute J. Etude des résultats de croisements mono et dihybridiques chez Zea sp. Association Nationale des Professeurs de Biologie de Belgique, 4: 191-207, 1976.

3 Vekemans M. Lenoir F. Deltombe M. and Vandenhaute J. Méthode d'examen et analyse des chromosomes polyteniques et mitotiques chez Drosophila melanogaster. Association Nationale des Professeurs de Biologie de Belgique, 3:86-98, 1977.

4 Vandenhaute J., Vekemans M., Lenoir F., and Deltombe M. Méthode d'examen et analysedes chromosomes méiotiques chez la souris. Association Nationale des Professeurs de Biologie de Belgique, 4:180-191,1977.

5 Vekemans M.and F.G. Biddle. Genetics and Epigenetics of Palate Development. In Palate Development: Normal and Abnormal Cellular and Molecular Aspects. Ed. E. Zimmerman, Academic Press. Current Topics in Developmental Biology 19:165-192, 1984


6 Vekemans M., and T. Trasler. A preliminary compilation of cytogenetic studies and of cultured cells derived from individuals homozygous or heterezygous for Ataxia- Telangiectasia, In: Ataxia-Telangiectasia: Ed. R. Gatti. Alan R. Liss, 205-214, 1985

7 Perry T.B., Lippman A., Vekemans M., Cartier L., Fournier P.J.R. and Hamilton E.F. Chorionic villi sampling: the McGill randomized clinical trial of safety and accuracy. In: First Trimester fetal Diagnosis. Ed. M. Fraccaro et al. Springer Verlag, Berlin, 334-340, 1985

8 Bernstein M., Vekemans M. Chromosomal changes in secondary leukemias of childhood and young adulthood. In: Critical Reviews in Oncology/Hematology Ed. C. Pochedly - Vol 5 Issue 4, 325-360, 1986

9 Vekemans M. Investigation of factors influencing the survival of trisomic fetuses in the mouse. In: Molecular and Cytogentic Studies of Non Disjunction.Eds.C. Epstein, T.Hassold, Alan R. Liss, 245-262, 1989

10 Vekemans M., Goldsmith C. and Cartier L. Amniocentesis following chorionic villus sampling (CVS): How often and why ? In: Chorionic Villus sampling and Early Prenatal Diagnosis. Eds A. Antsaklis, C. Metaxotous, BETA Medical Arts, Athens, Greece, 84-86, 1989

11 Lewandowski R.C. and Vekemans M. Chromosome 10, Monosomy 10Q2. In Birth Defects Encyclopedia. Ed. Buyse ML. Blackwell, 358-359, 1990

12 Vekemans M. Prenatal diagnosis of congenital malformations. In : Medicine Ethics and Law. Ed. D. Roy, 145-157, 1991

13 Zahed L. Murer-Orlando M. and Vekemans M. In situ hybridization for the detection of common trisomies associated with raised maternal age cases in CVS. In : Early Fetal Diagnosis. Eds. M. Mack, M A. Ferguson-Smith, M. Spela -Charles University Press. 516-519, 1992

14 Vekemans M., Delezoide A.L., “Les modèles de souris et les maladies génétiques humaines. In: les Nouvelles de la Sciences et des technologies, vol. 11 numéro 3, 55-60, 1993

15 Vekemans M. “Cytogenetics”, In: Diseases of the Fetus and Newborn, Eds. GB Reed, AE Claireaux, F Cockburn. Ed. Chapman and Hall. 1994

16 Vekemans M. ”Aberrations Chromosomiques" In: Les maladies osseuses de


l'enfant, P. Maroteaux, 3ème Ed., Médecine-Sciences, Flammarion, 55-66, 1995

17 Vekemans M., Cartier L. Fetal Medicine, Oxford University Press, 1995

18 Vekemans M. “Les aberrations chromosomiques". In: Précis de Pédiatrie, Ferrier P., Payot, Doin, Edisem, 1995

19 Vekemans M., Génétique Médicale, Medecine-Sciences, Flammarion, 1995

20 Viot G., Théophile D., Vekemans M., « La cytogénétique moléculaire », In : Génétique, Lyonnet S., Munnich A., Doin, Progrès en Pédiatrie, 1997

21 Berger R, Vekemans M, « Cytogénétique Humaine » In : Traité de Médecine, Godeau P., Médecine-Sciences, Flammarion, 1997

22 Delezoide A.L., Vekemans M., « Génétique et Développement », In : Principes de Génétique Humaine, Feingold J., Fellous M., Solignac M., Hermann, 1998

23 Viot G., Vekemans M., “ Clinical Molecular Cytogenetics”, In : Genetics for the Clinician, Baillière Tindall, 267-275, 1998 24 Kalousek D. and Vekemans M., “Confined Placental Mosaicism”, In : Diagnosis of Genetic Defects in the Fetus, Baillière Tindall, 14(4) :723-730, 2000

25 Korenberg JR, Barlow GM, Chen XN, Lyons G, Mjaatvedt C, Pettenati M, Vanriper AJ, Vekemans M. « Down syndrome congenital heart disease : narrowed region and DSCAM as a candidate gene. » In : Etiology and morphogenesis of congenital heart disease : twenty years of progress in genetics and developmental biology.Eds. Clark EB, Nakazawa M, Takao A Futura Publishing Co., Inc, 365-370, 2000

26 Vekemans M, Costa JM. « Diagnostic génétique fœtal par prélèvement de sang maternel » In : Le Diagnostic prénatal, INSERM, M. Dommergues, S. Aymé, P. Janiaud et V. Séror.35-39, 2003

27 Vekemans M, Frydman, Munnich A. « Diagnostic pré-implantatoire »In : Le Diagnostic prénatal, INSERM, M. Dommergues, S. Aymé, P. Janiaud et V. Séror.40-45,2003

28 Vekemans M, Morichon-Delvallez N, Romana SP. « Cytogénétique prénatale »In : Le Diagnostic prénatal, INSERM, M. Dommergues, S. Aymé, P. Janiaud et V. Séror.46-57,2003


29 Vekemans M. and Leonard A. Influence of blood storage after in vitro exposure to ionizing radiation on the yield of chromosome aberrations observed in human Iymphocytes. Int. J. Radiat. Biol., 31:493-498,1977

30 Vekemans M. and Fraser F.C. Stage of palate closure as one indication of liability of cleft palate. Am. J. Med. Genet. 4:95-102,1979

31 Vekemans M., Perry T. and Hamilton E. Chromosomal mosaicism on amniocentesis: an indication for fetoscopy ? New Engl. J. Med., 304:52-53, 1981

32 Vekemans M., Taylor B.A., and Fraser F.C. The susceptibility to cortisone induced cleft palate of recombinant inbred strains of mice: lack of association with H-2 haplotype. Genet. Res. (Camb.), 38:327-311, 1981

33 Esseltine D.W., Vekemans M., Seemayer T.A., Reece E., Gordon J., Whitehead V.M. Significance of a (4:11) translocation in acute Iymphoblastic leukemia, Cancer, 50:503-506, 1982

34 Vekemans M., Fraser F.C. Susceptibility to cleft palate and the major histocompatibility complex H-2- in the mouse. Teratology, 25:267-270, 1982

35 Popovich B., Vekemans M., Rosenblatt, D., Monroe P., Fragile X in normal samples. New Eng. J. Med., 306:1551-1552, 1982

36 Vekemans M., The genetical difference between the DBA/2 and C57BL6 strains in cortisone-induced cleft palate. Genome Research, 24:797-805,1982

37 Popovich B.W., Rosenblatt D.S., Cooper B.A. and Vekemans M. Intracellular folate distribution in cultured fibroblats from patients with the fragile X syndrome. Am. J. Hum. Genet., 35:869-879, 1993

38 Bolande R.P. and Vekemans M. Genetic models of carcinogenesis. Hum. Pathol., 14:656-662, 1983

39 Lippman-Hand A. and Vekemans M. Balanced translocations among couples with two or more spontaneous abortions: are males and females equally likely to be carriers? Human Genet., 63:252-257, 1983

40 Vekemans M., Popovich B, Rosenblatt D., and Monroe P. Chromosomal breakage in normal and fragile X individuals using low folate culture conditions. J. Med. Genet. 20:404-407, 1983

41 Roy 1., Chen M.F., Vekemans M. Deletion of the long arm of chromosome 11 and


sex chromosome constitution. Am. J. Med. Genet. 20:401-402, 1983

42 Perry T.B., Vekemans M., and Lippman E.F., Hamilton and Fournier P.J.R. Chorionic villi sampling: clinical experience, immediate complications and patients attitudes. Am. J. Obst. Gynecol.151:161-169,1983

43 Vekemans M. and Lippman. Eligibility criteria for amniocentesis. Am. J. Med. Genet. 17:531-533, 1984

44 Perry T.B., Vekemans M. and Lippman A. Safety of first trimester chorionic villus sampling. New. Eng. J. Med. 311 :987-988, 1984

45 Lippman A., Vekemans M. and Perry T.B. Fetal mortality at the time of chorionic villus sampling. Hum. Genet. 68:337-339, 1984 46 De Chadarevian J.P., Vekemans M. and Seemayer T.A. Reciprocal translocation in small cell sarcomas. New Engl. J. Med. 311:1702-1703, 1984

47 De Chadarevian J.P., Vekemans M., Bernstein M. Fanconi anemia, medulloblastoma, Wilms' tumor and gonadal dysgenesis. Arch. Pathol. Lab.Med. 109:367-369, 1985

48 Rosenblatt D.S., Duchesnes E., Hellstrom F., Golich M., Vekemans M., Zeesman S., Andermann E. Folic acid blinded trial in identical twins with fragile X syndrome. Amer. J. Human Genet. 37:543-552, 1985

49 Preus M., Aymé S., Kaplan P, Vekemans M. A taxonomic approach to the del (4p) phenotype. Amer. J. Med. Genet. 21 :337-345,1985

50 Vekemans M. and Esseltine. A new chromosomal abnormality in acute non Iymplocytic leukemia. Hum. Genet. 70:189-190, 1985

51 Seemayer T., Vekemans M., de Chadarevian J.P. Histological and Cytogenetic

findings in a malignant tumor of the chest wall and lung (Askin Tumor). Virchow Arch. A. 408:289-296,1985

52 Preus M., Vekemans M., Kaplan P., Diagnosis of chromosome 3 duplication q23 qter, deletion p25 - pter in a patient with the C (trigonocephaly) syndrome.

Am. J. Med. Genet. 23:935-945,1986

53 Vekemans M., Perry T.B. Cytogenetic analysis of chronionic villi. A technical assessement. Hum. Genet. 72:307-310,1986.


54 Bernstein M.L., Esseltine D.W., Edmond J., Vekemans M. Acute Lymphoblastic Leukemia at relapse in a child with Acute Myeloblastic Leukemia. Am. J. Pediat. Hematol. Oncol. 8 : 153-157, 1986

55 Kapron-Bras C.M., Vekemans M., Trasler D.G. A chromosome marker for the early detection of mouse embryos carrying the neural tube defect mutation splotch. Can. J. Genet. Cytol. 28: 862-866, 1986

56 Vekemans M., Trasler T. Liability to cleft palate in trisomy in mouse embryos. J.of Craniofacial Genet. and Dev. Biol. 2:235-240, 1986

57 Perry, Tracy B., Vekemans M. Lippman A., Emily F. Hamilton, Fournier Paul J.R. Early Prenatal Diagnosis by chorionic villi sampling. Curr. Probl. Derm.

16: 14-22,1987

58 Vekemans M., Trasler T. Genetic control of the survival of trisomic fetuses in mice: A preliminary report. Am. J. Med. Genet. 26:763-770, 1987

59 Delvin E., Pilon A.M., and Vekemans M. Specific 1, 25-Dihydroxycalciferol receptors and stimulation of 25-dihydroxycalciferol 24H hydrolysase in human amniotic cells.Pediat.Res.21:432-435,1987

60 de Chadarevian J.P., Kaplan P., Vekemans M., Kaplan B.S.Aniridia/Glaucoma and Wilms'Tumor in a sibship with renal tubular acidosis and sensory nerve deafness. Am. J. Med. Genet. 3:323-328,1987

61 Wilson G.N., Vekemans M. MCA/MR Syndrome in a female with tetraploidy mosaicism: Review of the human polyploid phenotype . Am.J.Med.Genet. 30:953- 963, 1988

62 Wilson N., Miau A., de Chadaravian J.P., Vekemans M. The effects of aneuploidy upon human ribosomal DNA inheritance. Am. J. Med. Genet. 30:953-963, 1988

63 Fitch N., Kaplan P., Vekemans M. and Rochon L. Deletion 1q42ter and Trisomy 3q23-qter, Dysmorphology and Clinical Genetics 2:72-75, 1988

64 Canadian Collaborative CVS-Amniocentesis Clinical Trial Group-Multicentre randomized clinical trial of Chorion Villus Sampling and Amniocentesis. Lancet 1:1-6, 1989

65 de Brackeleer M., Vekemans M., A 3:5 translocation in blastic crisis of a Philadelphia chromosome negative CML. Cancer Genet. Cytogenet. 37:163-168, 1989


66 Tomkins D., Vekemans M., False positive and false negative cytogenetics findings on chorionic villus sampling-Prenatal Diagnosis 9:139-141, 1989

67 Halal F., Vekemans M. and der Kaloustian V.M. A presumptive translocation 1 p2q resulting in a partial trisomy 1 p and partial monosomy 2q Am. J. Med. Genet. 32:376- 379, 1989

68 Vekemans M., de Brackeleer, de Chadarevian J.P. Cytogenetic analysis of Wilms tumor. Evidence of a Multistep process. Oncology 46:306-309, 1989

69 Kolher C.D., Schaadt C.P., Vekemans M. Chromosome banding studies of the osprey Pandion Haliaetus (Aves, Falconiformes). Genome 32 :1037-10,1989

70 Halal F., Vekemans M., Kaplan P., S. Zeesman. Distal deletion of chromosome 1q in an adult. Am. J. Genet. Med. 35:379-382, 1990

71 Der Kaloustian V., McGill J.J., Vekemans M., Kopelman H.R. Clonal lines of aneuploid cells in Rothmund-Thomson Syndrome. Am. J. Med. Genet. 37:336 - 339, 1990

72 Rochon L. and Vekemans M. Triploidy arising from a 1st meiotic nondisjunction in a mother carrying a reciprocal translocation. J. Med. Genet. 27:724-726, 1990

73 Epstein D and Vekemans M. Genetic control of the survival of murine trisomy in fetuses.Teratology 42:571-580, 1990

74 Kaplan P., Normandin J.Jr., Wilson G.W., Plauchu H., Lippman A. ,Vekemans M. Malformation and minor malformations in children whose mothers had prenatal diagnosis: comparison between CVS and Amniocentesis Am. J. Med. Genet. 37:366- 270, 1990

75 Vekemans M. and Morichon-Delvallez N. Duplication of the long arm of chromosome 13 secondary due to a recombination in a maternal intrachromosomal insertion (shift). Prenatal Diagnosis 10:787-794, 1990

76 Halal F. and Vekemans M. Brief Clinical Report . Ring Chromosome 4 in a child with duodenal atresia. Am. J. Med. Genet. 37:79-82, 1990

77 Epstein D.J., Malo D., Vekemans M. Gros P. Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1. Genomics 10:89-93, 1990


78 Chen M.F., Vekemans M., Maegher-Villemure K., Outerbridge E., Fraser F.C, DerKaloustian V.M. Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosome 5 et 10. Am. J. Med. Genet.4: 478-481,1990

79 Malo D., Schurr E. Epstein D.J., Vekemans M.,Skamene E., Gros P. Genetic mapindicates that the host resistance locus Bcg is located within a group of cytoskeleton-

associated protein genes which include villin and desmin. Genomics 10- 356-364, 1991

80 Zahed L., Vekemans M. The use of in situ hybridization in clinical cytogenetics. Pediatric Pathology 11:497-505, 1991

81 Elliot B.E., Xu W., Brissette L., Deeley R.G., Mudrik K., Marshall J., Vekemans M., Holden J.J.A., Outgrowth of stable classe I Major Histocompatibility Complex-expressing subsets from immunogenic variants of a murine mammary carcinoma: association with a differentially staining region on chromosome 9 Genes. Chromosomes Cancer 3:1-10, 1991

82 Halal F., Vekemans M., Chitayat D., Brief Clinical Report. Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignement of the structural gene encoding human aspartylglucosaminidase to this segment. Am. J. Med. Genet. 39:418-421,1991

83 Epstein D.J., Vekemans M., Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67:767-774, 1991

84 Teshima 1., Kalousek D., Vekemans M., Markovic V., Cox D., Gagne R., Lin C., Ray M., Sergovich F., Uchida 1., Wang H., Tomkins D. Chromosome mosaicism in CVS

and amniocentesis samples. Prenatal Diagnosis 12:443-467, 1992

85 Tomkins D.J., Vekemans M., Teshima IE., Cox D.M., Dallaire L., Gagné R. Kalousek D.K., Lin J.C.C. Markovic V., Ray M., Sergovich F., Uchida l.A, Wang H. Cytogenetic Results from the Medical Research of Canada Randomized Clinical Trial of Chorionic Villus Sampling versus Amniocentesis. Final Report. Prenatal Diagnosis, 12: 439-441, 1992

86 Tomkins D.J., Vekemans M., Shime J., Hamerton J.L., Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Canadian Multicentre Randomized Clinical Trial of Chorion Villus Sampling and Amniocentesis. Final report, Annexe 1, Prenatal Diagnosis,12: 385-409, 1992.

87 Laneuville P., Guoxian S., Timm M., Vekemans M. Clonal Evolution in a Myeloid cell line Tranformed to IL-3 independant growth by retroviral Transduction and


Expression of p210 BCR/ABL. Blood, 80: 1788-1797, 1992

88 Elliott B.E, Xu M., Mudrik K., Marshall J., Vekemans M., Holden J. Karyotype evolution of a murine mammary adenocarcinoma in vitro and during progression from primary to metastatic growth in vivo. Genes, Chromosomes and Cancer, 4: 281-289, 1992

89 Halal F., Chitayat D., Parikh H., Rosenblatt B., Tranchemontagne J., Vekemans M., Potier M. Ring Chromosome 20 and Possible Assignement of the Structural Gene Encoding Human Carboxypeptidase-L to the Distal Segment of the Long Arm of Chromosome 20, Am. J. of Med. Genet., 43:576 -579, 1992

90 Kieran M.W, Vekemans M., Robb J.L., Sinsky A., Outerbridge E.W. and Der Kaloustian V.M. Portohepatic Shunt in a Down Syndrome Patient with an Interchange Trisomy 47, XY,2,+der(2),+der(21) t(2;21) (p13;q22.1) mat. Am.J. of Med. Genet., 44:288-292, 1992

91 Mancino F., Vekemans M., Trasler D.G., Gros P. Segregation analysis reveals tight genetic linkage between the spontaneously arising neural tube defect gene splotch (Sp) and Pax-3 in an intraspecific mouse backross. Cytogenet. Cell Genet. 61:143-145, 1992

92 Prado V.F., Lee C.H., Zahed L., Vekemans M., Nishioka Y. Molecular characterization of a mouse Y chromosomal repetitive sequence that detects transcripts in the testis. Cytogenet. Cell Genet. 61 :87-90,1992

93 Zahed L., Murer-Orlando M., Vekemans M. In situ hybridization studies for the detection of common aneuploidies in CVS. Prenat. Diagn. 6:483-93,1992

94 Vidal S.M., Epstein D.J, Malo D., Weith A., Vekemans M., Gros P. Identification andmapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1, Genomics, 1: 32-7,1992

95 Morichon-Delvallez N., Mussat P., Dumez Y., Vekemans M. Trisomy 15 in Chorionic Villi and Prader-Willi Syndrome at Birth, Prenatal Diagnosis, 13: 307-308, 1993

96 Demczuk S., Vekemans M. Maternal Genes and survival of Trisomic fetus . Teratology, 47:311-319, 1993

97 Abitbol M., Menini C., Delezoide A.L., Rhyner T., Vekemans M., Mallet J. Nucleus basalis magnocellularis and hippocampus are major sites of FMR-1 gene expression in the human fetal brain. Nature Genetics, 4:147-153, 1993

98 Kobrynski L., Chitayat D., Zahed L., McGregor D., Rochon L., Browstein S, Vekemans M. and Albert L. D. Trisomy 22 and Facioauriculovertebral


(Goldenhar) Sequence. Am. J. of Med. Genet., 46, 68-71,1993

99 Morichon-Delvallez N., Delezoide A.L., Vekemans M. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-7qter. J of Med. Genet. 30:521-524, 1993

100 Stalker H., Aymé S., Delneste D., Scarpelli H., Vekemans M., Der kaloustian V.M.. Duplication of 9q12-q33: a case report and implications for the dup (9q) syndrome. Am. J. Med. Genet. Feb.15, 45 (4) 456-9, 1993

101 Chitayat D., Stalker H., Vekemans M., Delneste D., Azouz E.M. Phocomelia, oligodactyly and acrania: the Schinzel-Phocomelia syndrome, Am. J. Med Genet. Feb. 1:45 (3):297-9,1993

102 Epstein D.J., Bardeesy N., Vidal S., Malo D., Weith A., Vekemans M., Gros P. Characterization of a region-specific microdissected library in the vicinity of the Bcg and splotch loci on mouse chromosome 1. Genomics, 19:163-168, 1994

103 Martelli H., Richard S., Moczar M. et Godeau G., Pfister A., Pellerin D., Vekemans M. Congenital soft tissue dysplasias. A morphological and Biochemical study. Pediatric Pathology, 14:873-894, 1994

104 Vilain E., Le Fiblec B., Morichon-Delvallez N., Brauner R., Dommergues M., Dumez F., Boucekkine C., Mcelreavey K., Vekemans M., Fellous M. SRY negative XX fetus with complete male phetotype.Lancet, 343: 240-241,1994

105 Palmour R.M., Miller S., Fielding A., Vekemans M., Ervin F.R. A contribution to the Differential Diagnosis of the "group of Schizophrenia". Structural Abnormality of Chromosome, J. Psychiatr. Neurosci. 19: 270-277, 1994

106 Delezoide A.L., Vekemans M. Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations. Biomed and Pharmacother, 48:335-339,1994

107 Mitchell J.J., Vekemans M., Luscombe S., Hayden M., Weber B., Ritcher A., Sparkes R., Kojis T., Watters G., Kaloustian VMD. U-Type Exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am. J. Med. Gent. 49: 384-387, 1994

108 Gerard M., Abitbol M. Delezoide A.L., Dufier J.L., Mallet J., Vekemans M. PAX- genes expression during human embryonic development: a preliminary report. C. R.,


Acad. Sci. Paris/Life Sciences, 318, 57-66,1995

109 Chitayat D., Ruvalcaba R., Babul R., Teshima 1., Posnick J., Vekemans M., Scarpelli H., Thuline H. Syndrome of Proximal Interstitial Deletion 4p15; Report of three cases and review of the literature. Am. J. Med. Genet., 55:147-154, 1995

110 Cormier-Daire V., Iserin L., Théophile D., Sidi C., Vervel J.P., Padovani J.P., Vekemans M., Munnich A., Lyonnet S. Upper Limb malformations in DiGeorge Syndrome. Am. J. Med. Genet., 56:39-41, 1995

111 Lellouch-Tubiana A., Bourgeois M., Vekemans M., Robain O. Dysembryoplastic neuroepithelial tumors in two children with neurofibromatis type 1. Acta neuropathol. 90:319-322, 1995.

112 Roustan P., Abitbol M., Menini C., Ribeaudeau F., Gérard M, Vekemans M., Mallet J., Dufier JL. The rat phospholipase C beta 4 gene is expressed at high abundance in cereballar . Purkinje cells. Neuroreport, 6:1837-1841, 1995

113 Sahly I., Abitbol M., Laurent C., Ghazi I., Ribeaudeau F., Vekemans M., Dufier J.L. Identification of a Novel PAX6 gene mutation in an Aniridia Patient. Hum. Mut. 7 :377-378,1996

114 Treacy E., Polychronakos C., Vekemans M., Eydoux P., Blaichman S., Scarpelli H., Ross M., Xu Y., Der Kaloustian V.M. Translocation between chromosomes 6 and 15 (45,XX,t (6;15)(q25;q11.2) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans. J.Med.Genet. 33 :42-46, 1996

115 Maheu-Caputo D., Dommergues M., Morichon-Delvallez N., Aubry M.C., Vekemans M., Dumez Y. First-Trimester Translucency: Aneuploidy, Sonographic Findings and maternal age. Fetal Diagn. Ther., 11:199-204, 1996

116 Der Kaloustian V.M., Kleijer W., Booth A., Auerbach A.D., Mazer B., Elliott A.M. , Abish S., Usher R., Watters G., Vekemans M., Eydoux P. Possible new variant of Nijmegen breakage syndrome. Am. J. Med. Genet.65: 21-26, 1996

117 Kalousek D.K., Vekemans M. Confined Placental Mosaicism: a review. J. Med. Genet. , 33:529-533, 1996

118 Theophile D., Bérubé D., Augé J., Vekemans M. Absence of genomic imprinting at the DiGeorge locus. Acta Genet. Med. Gemellol. 45: 277-280, 1996

119 Satgé D., Le Tourneau A., Verger J.P., Lefort S., Geneix A., Malet P., Diebold J., Vekemans M. A case report of Down syndrome of centroblastic lymphoma. Path. Res.


Pract., 192:1266-1269, 1996

120 Cacheux V., Delezoide A.L., Vekemans M. Le syndrome de Waardenburg. C.R. Soc. Biol., 190:577-580, 1996

121 Delozier-Blanchet C., Vekemans M., Mosaïque chromosomique et retard de croissance intra-utérin. Arch. Pediat., 4: 815-817, 1997

122 Cormier-Daire V., Le Merrer M., Morichon N., Gigarel N., Prieur M., Lyonnet S., Vekemans M., Munnich A. Prezygotic origin of the isochromosome 12p in Pallister- Killian syndrome. Am. J. Med. Genet., 69:166-168, 1997

123 Mégarbané A., Souraty N., Théophile D., Vekemans M., Samaras L., Ghorayeb Z. Trisomy for the distal segment of teh short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features. Ann. Génét., 40:55-59, 1997

124 Satgé D., Sasco A.J., Cure H., Leduc B., Somelet D., Vekemans M. Excess of testicular germ cell tumors in Down syndrome. 3 cases report and litterature review. Cancer, 80: 929-935, 1997

125 Rack K.A., Cornelis F., Radford-Weiss I., Bernheim A., Harrison C.J., Hermine O., Prieur M., Vekemans M, Macintyre E.A. A chromosome 14q11/TCRa/d specific YAC improves the detection rate and characterisation of chromosome abnormalities in T-lymphoproliferative disorders. Blood, 90:1233-1240, 1997

126 Cessot F., Theophile D., Beauvais A.-M., Delezoide A.-L., Vekemans M. : Détection d'anomalies chromosomiques par hybridation in situ sur coupes de tissu fœtal. Annal. Pathol.,17:271-276, 1997

127 De Lonlay-Debeney P., Cormier-Daire V., Amiel J., Abadie V., Odent S., Paupe A., Couderc S., Tellier A.L., Bonnet D., Prieur M., Vekemans M., Munnich A., Lyonnet S. Features of DiGeorge syndrome and CHARGE association in five patients. J. Med. Genet., 34:986-989, 1997

128 Delezoide A.-L. Lasselin-Benoist C., Legeai-Mallet L., Brice P., Senee V., Yayon A., Munnich A., Vekemans M., Bonaventure J. Abnormal FGFR 3 expression in

cartilage of thanatophoric dysplasia fetuses. Hum. Mol. Genet., 6, 1899-1906, 1997

129 Storeng Ritsa T., Plachot M.,Théophile D., Mandelbaum J., Belaisch-Allart J., Vekemans M. Incidence of sex chromosome abnormalities in spermatozoa from patients entering an IVF or ICSI protocol. Acta Obstet Gynecol Scand, :191-197,


1998

130 Belin V., Cusin V., Viot G., Girlich D., Toutain A., Moncla A., Vekemans M., Le Merrer M., Munnich A., Cormier-Daire V. Shox mutations in dyschondrosteosis (Leri-Weill syndrome). Nature Genetics, 19: 67-69, 1998

131 Troussard X, Mauvieux L, Radford-Weiss I, Rack K, Valensi F, Garand R, Vekemans M. Genetic analysis of splenic lymphoma with villous lymphocytes : a Groupe Français d’Hématologie Cellulaire (GFHC) study . British J Haematology, 101: 712-721, 1998

132 Satgé D., Sommelet D., Geneix A., Nishi M., Malet P., Vekemans M. A tumor profile in

Down syndrome. Am. J. Med. Genet., 78:207-216, 1998

133 Laurent A., Rouillac C., Delezoide A.L., Giovangrandi Y. Vekemans M., Bellet D., Abitbol M., Vidaud M. INSL4 and IGF-II genes expression in human embryonic and trophoblastic tissues. Molecular Reproduction and Development, 51:123-129, 1998

134 Rack K.A., Delabesse E., Radford-Weiss I., Bourquelot P., Le Guyader G., Vekemans M., Macintyre E.A. Simultaneous detection of MYC, BVRI, and PVTI translocations in lymphoid malignancies by Fluorescence In Situ Hybridization. Genes, Chromosomes & Cancer, 23:220-226, 1998

135 Karadima G., Bugge M., Nicolaidis P., Vassilopoulos D., Avramopoulos D., GrigoriadouM., Albrecht B., Eberhard P., Aneren G., Blennow EE., Clausen N., Galla-Voumvouraki A., Tsezou A., Kitsiou-Tzeli S., Hahnemann J.M., Hertz J.M., Houge G., Kuklik M., Macek M., Lacombe D., Miller K.,Moncla A., Pajares L., Patsalis P. C., Prieur M, Vekemans M., Von Beust G., Brondum-Nielsen K., Petersen M.B. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. European Journal of Human Genetics 6 :432-438,1998

136 Ottolenghi C and Vekemans M. Genetic divergence between mouse and humans : a useful direction for gene pathway analysis. Teratology, 58:82-87, 1998

137 Delezoide AL, Benoist-Lasselin C, Legeai-Mallet L, Le Merrer M, Munnich A, Vekemans M, Bonaventure J. Spatio-temporal expression f FGFR 1, 2 and 3 genes during human embryo-fetal ossification. Mechanisms of Development, 77:19-30, 1998

138 Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr, Nov, 103:


495-504, 1998

139 Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Expression of the RET proto-oncogene in human embryos. Am J Med Genet, 80:481-486, 1998

140 Rack KA, Salomon-Nguyen F, Radord-Weiss I, Ocana Gil M, Schmitt C, Belanger C, Nusbaum S, Vekemans M, Valensi F and Macintyre EA. FISH detection of chromosome 14q32/IgH translocations : evaluation in follicular lymphoma. British Journal of Haematology, 103:495-504, 1998

141 Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker JN, Henry I, Munnich A, Vekemans M, Lyonnet S. Wilm’s tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet, 53:278-280, 1998

142 De Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Ly S, Sidi D, Munnich A, Vekemans M et Cormier-Daire V. Epstein anomaly associtied with rearrangements of chromosomal region 11q. Am J of Med Genet, 80:157-159, 1998

143 Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M Prenatal diagnosis of a 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the litterature. Prenatal Diagnosis, 18:1055-1060, 1998

144 Faivre L, Delezoide AL, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard ML, Lyonnet S, Vekemans M, Munnich A, Le Merrer M A new lethal syndrome of exomphalos, short limbs, and macrogonadism.J Med Genet, 36:131-136,1999

145 Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and review of the literature.Prenatal Diagnosis, 19:49-53,1999

146 Fougerousse F and Vekemans M Expressive Genomics.Trends Genet, 15: 137, 1999

147 Kara-Mostefa A, Raoul O, Lyonnet S, Amiel J, Munnich A, Magnier S, Ossareh B, Vekemans M, Bonnefont JP. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germline mosaicism. Am J of Hum Genet, 64:1475-1478,1999

148 Faivre L and Vekemans M Risk factors for heart defects in Down syndrome. Teratology, 59:132,1999

149 Faivre L, Morichon-Delvallez N, Viot G, Larget-Piet A, Narcy F, Pinson MP,


Dumez Y, Munnich A, Vekemans M Prenatal diagnosis of a satellited nonacrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature. Prenat Diag, 19: 282-286, 1999

150 Harrison CJ, Radford-Weiss I, Ross F, Rack K, Le Guyader G, Vekemans M,

Macintyre E. Fluorescence In Situ Hybridization analysis of masked (8 ;21)(q22 ;q22) translocations. Cancer Genet Cytogenet, 112 :15-20, 1999

151 Odent S, Attié-Bitach T, Blayau M, Mathieu M, Augé J, Delezoide AL, Le Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet, Sep ;8(9) :1683-1689, 1999

152 Lyonnet S, Morichon N, Dommergues M, Dumez Y, Briard ML, Vekemans M, Munnich A (Contribution of genetics) Arch Pediatr, 6 Suppl 2 :246s-248s, 1999

153 Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M SHOX gene mutatons and deletions in dyschondrosteosis or Leri-Weill syndrome. Acta Paediatr Supll, 1999 Dec ;88(433) :55-59

154 Vona G, Sabile A, Louha M, sitruk V, Romana S, Schutze K, Capron F, Franco D,Pazzagli M, Vekemans M, Lacour B, Bréchot C, Paterlini-Bréchot P. Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulating tumor cells. Am J Pathol. 2000 Jan ;156(1) :57-63

155 Faivre L, Bonnefont JP, Lyonnet S, Munnich, Vekemans M. Improvement of cystic fibrosis using antitumoral drugs : a hypothesis. Med Hypotheses, 2000, 54 (4), 580-1

156 Kirillova I, Novikova I, Augé J, Audollent S, Esnault D, Encha-Razavi F, Lazjuk G, Attié-Bitach T, Vekemans M. Expression of the Sonic Hedgehog gene in human embryos with neural tube defects. Teratology, 2000 May ;61(5) :347-354

157 Rachidi M, Lopes C, Gassanova S, Sinet P, Vekemans M, Attié T, Delezoide AL,Delabar J.Regional and cellular specificity of the expression of TPRDn the tetratrico Down syndrome gene, during human embryonic development. Mech Dev, 2000 May 1 ;93(1-2) :189-193

158 Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V Apparent sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. Am J Med Genet, 2000 Apr 10 ; 91(4) :273-276

159 Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-chevallier A, Holschneider AM, Munnes M, Doerfler W,


Goosens M, Munnich A, Vekemans M, Lyonnet S.Neurological phenotype in Waardenburg syndrome type correlates with SOX10 truncating mutations and expression in developing brain. Am J Hum Genet, 2000 May ;66(5) :1496-1503

160 Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans MCerebellar ataxia and mental retardation in a child with an inherited satellite chromosome 4q. Ann Genet, Jan 1 ;43(1) :35-38, 2000

161 Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonet S, Munnich A, Vekemans M, Morichon-Delvallez N. Maternal uniparental heterodisomy of chromosome 14 : chromosomal mec and clinical follow up. J Med Genet, Jul ; 37(7) :525-8, 2000

162 Tellier AL, Amiel J, Delezoide AL, Audollent S, augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T.Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet, Jul 17 ;93(2) :85-8, 2000

163 Fert-Ferrer S, Guichet A, Tantau J, Delezoide AL, Ozilou C, Romana SP, Gosset P, Viot G, Loison S, Moraine C, Morichon-Delvallez N, Turleau C, Vekemans M, Prieur M. Subtle familial unbalanced translocation t(8 ;11)(p23.2 ;p15.5) in two fetus Beckwith-Wiedemann features. Prenat Diagn, Jun ;20(6) :511-5, 2000

164 Gimm O, Attié-Bitach T, Lees JA, Vekemans M, Eng C. Expression of PTEN tumour suppresor protein during human development. Hum Mol Genet, Jul 1 ;9(11) :1633-9, 2000

165 Crosnier C, Attié-Bitach T, Encha-Razavi F, Audollent S, soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M. JAGGED1 gene expression during human embryogenesis elucidates the phenotypic spectrum of Alagille syndrome. Hepatology, 32(3) :574-581, 2000

166 Megarbane A, Gosset P, Souraty N, Lapierre JM, Turleau C, Vekemans M, Loiselet J,Prieur M. Chromosome 7q22-q31 duplication : Report of a new case and review. Am J Med Genet, 13 ; 95(2) :164-168, 2000

167 Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F,Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome : mutational hotspot and germline mosaïcism. Eur J Hum Genet 8(11) :820-6, 2000

168 Ray PF, Gigarel N, Bonnefont JP, Attié T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A. First specific preimplantation genetic diagnosis for ornitine


transcarbamylase deficiency. Prenat Diag, 20, 1048-1054, 2000

169 Kalousek DK, Vekemans M. Confined placental mosaicism and genomic imprinting.Baillieres Best Prct Res Clin Obstet Gynaecol, 14(4) :723-730, 2000

170 Rendtorff N D, Frödin M, Attié-Bitach T, Vekemans M, Tommerup N. Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL1) with a frequent polymorphism that abolishes translation.Genomics, 71, 40-52, 2001

171 Salomon R, Tellier AL, Attié-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P,Niaudet P, Gubler MC, Broyer M. PAX2 mutations in oligomeganephronia. Kidney Int, 59(2) :457-462, 2001

172 Elghezal H, Le Guyader G, Radford-Weiss I, Perot C, Van Den Akker J, Eydoux P,Vekemans M, Romana SP. Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes spectral analysis. Genes Chromosomes Cancer, 30(4) :383-392, 2001

173 Faivre L, Vekemans M, Sanlaville D, Munnich A, Cormier-Daire V. No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients.Am J Med Genet, 99(2) :166-167, 2001

174 Romana SP, Gosset P, Elghezal H, Le Lord’h M, Ozilou C, Lapierre JM, Sanlaville D,Turleau C, Vekemans M. Improving characterization of constitutional chromosomal rearrangements molecular cytogenetics. J Gynecol Obstet Biol Reprod, 30 Suppl 1 :75-79, 2001

175 Mégarbané A, Le Lorc’h M, Elghezal H, Joly G, Gosset P, Souraty N, Samaras L, Prieur M, Vekemans M, Turleau C, Romana SP. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes. J Med Genet, 38 :178-182, 2001

176 Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinne NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR. Down syndrome congenital heart disease : a narrowed region and a candidate gene. Genet Med, 3(2) :91-101, 2001

177 Satgé D, Monteil P, Sasco AJ, Vital A, Ohgaki H, Geneix A, Malet P, Vekemans M, Rethore MO. Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma. Cancer, 91(8) :1458-1466, 2001

178 Ray PF, Vekemans M, Munnich A. Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Mol Hum Reprod, 7(5) : 489-494, 2001


179 Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann, Pelet A, Nihoul-Fekete C,Vekemans M, Munnich A, Lyonnet S. Molecular genetics of Hirschprung disease : a model of multigenic neurocristopathy. J Soc Biol, 194(3-4) :125-128, 2001

180 Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoul O, Lyonnet S, cormier-Daire V, amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M,

Romana S, Cornelis F, Vekemans M, Munnich A. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.Eur J Hum Genet, 9, 319-327, 2001

181 Attié-Bitach T, Vekemans M, Encha-Razavi F. Craniofacial development : morphogenesis and determinism. Arch Pediatr, 8 Suppl 2 :390s-392s, 2001

182 Satgé D, Sasco AJ, Plantaz D, Benard J, Vekemans MJ. Abnormal number of X chromosomes and neuroblastic tumors. Am J Pediatr Hematol Oncol, 23(5) :331-332, 2001

183 Satgé D, Gembara P, Sasco AJ, Francannet C, Desjardins L, Vekemans M, Demeocq F.An infant with Down syndrome and retinoblastoma A possible non-fortuitous association.Ophtalmic Genet , 22(2) :117-123, 2001

184 De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A.Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.J Pediatr, 139(1) :111-116, 2001

185 Rio M, Ozilou C, cormier-Daire V, Turleau C, Prieur M, Vekemans M, Chauveau P, Munnich A, Colleaux L. Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation. Hum Genet, 108(6) :511-515, 2001

186 De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C,Munnich A Beta(1)-adrenergic antagonists improve sleep and behaviour disturbances in a circadian disorder, Smith-Magenis syndrome. J Med Genet, 38(9) :586-590, 2001

187 Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois M.C., Prieur M, Raoul O, Colleaux L, Munnich A, Romana SP, Vekemans M, Turleau C. Comparative genomic hybridization in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet, 60(3) :212-219, 2001

188 Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Rill M, Touraine R, Toutain A, Vekemans

M, Munnich A, Lyonnet S. Large-scale deletions and SMADIP1 truncating mutations in


syndromic Hirschsprungdisease with involvement of midline structures. Am J Hum Genet. 2001 Dec;69(6):1370-1377, 2001

189 Frydman N, Romana S, Le Lorc’h M, Vekemans M, Frydman R, Tachdjian G. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod, 16(11) :2274-2277, 2001

190 Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M. Chromosome 10p11.2-p12.2 Duplication : Report of a patient and review of the literature. Am J Med Genet, 104 :204-208, 2001

191 Ray PF, Munnich A, Nisand I, Frydman R, Vekemans M, Viville S. The place of « social sexing » in medicine and science. Hum Reprod, 17(1) :248-249, 2002

192 Vona G, Béroud C, Benachi A, Quenette A, Bonnefont JP, Romana S, Munnich A,Vekemans M, Dumez Y, Lacour B, Paterlini-Bréchot P. Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood. Am J of Path, 160(1) :51-58, 2002

193 Sanlaville D, Romana SP, Lapierre JM, Amiel J, Geneviève D, Ozilou C, Le Lorch M,Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. A CGH study of 27 patients with CHARGE association. Clinical Genetics, 61(2) 135-138, 2002

194 Mahieu-Caputo D, Senat MV, Romana S, Houfflin-Debargue V, Gose P, Audibert F, Bessis R, Ville Y, Vekemans M, Dommergues M. Quoi de neuf en médecine fœtale ?

Arch Pediatr, 9(2) :172-186, 2002

195 Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet, 39(4) :266-270, 2002

196 Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Expression of the SMADIP 1 gene during early human development. Mech Dev, 114(1-2) :187-191, 2002

197 Ray PF, Frydman N, Attie T, Hamamah S, Kerbrat V, Tachdjian G, Romana S, Vekemans M, Frydman R, Munnich A.Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.Mol Hum Reprod 8(7) :688-694, 2002

198 Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset Ph, Le Lorc’h M, Raoul O, Turleau C,


Vekemans M, Romana SP. Molecular characterization of partial trisomy 16q24.1-qter : Clinical report and review of the literature. Am J Med Genet,15 ;113(4) :339-345,2002

199 Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.

J Mol Med, 80(7) :431-442, 2002

200 Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviève D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.J Med Genet, 39(8) :594-596, 2002

201 Achour-Frydman N, Romana S, Ray P, Hamamah S, Tachdjian G, Munnich A, Vekemans M, Frydman R Preimplantation genetic diagnosis. J Gynecol Obstet Biol Reprod, 31(5) :456-64, 2002

202 Frydman R, Tachdjian G, Achour-Frydman N, Ray P, Romana S, Hamamah S, Marcadet-Fredet S, Kerbrat V, Fanchin R, Kadoch J, Attié T, Lelorc’h M, Vekemans M, Munnich A. Le diagnostic préimplantatoire. Bull Acad Natl Med, 186(5) :865-875, 2002

203 Faivre L, Gosset Ph, Cormier-Daire V, Odent S, Amiel J, Guirgia I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, de Blois MC, Turleau C.Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene : report of two families and review of the literature. Eur J Hum Genet, 10(11) :699-706, 2002

204 Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L.

Truncating neurotrypsin mutation in autosomal recessive non-syndromic mental retardation. Science, 298(5599) :1779-1781, 2002

205 Vekemans M. Âge parental et risques génétiques pour la descendance. Gynecol Obstet Fertil, 30:831-833, 2002

206 Geneviève D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Alla, Picq M, Munnich A, Romana S, De Blois M, Vekemans M. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet, 116(1) :90-3,2003

207 Ray PF, Munnich A, Nisand I, Frydman R, Vekemans M, Viville S, and the French GET-DPI. Is preimplantation genetic diagnosis for « social sexing » desirable in today’s and tomorrow’s society ? Hum Reprod, 18(2), 463-464, 2003

208 Tachdjian, Frydman N, Morichon-Delvallez N, Le Dû A, Fanchin R, Vekemans M,


Frydman R. Reproductive genetic counselling in non-mosaic 47,XXY patients : implications for preimplantation or prenatal diagnosis : Case report and review. Hum Reprod, 18, 271-275,2003

209 Cormier-Daire V, Molinari F, rio M, Raoul O, De Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L.Cryptic terminal deletions of chromosome 9q34: a novel cause of syndromic obesity in childhood ? J Med Genet, 40(4):300-303, 2003

210 Belaud-Rotureau MA, Elghezal H, Bernardin C, Sanlaville D, Radford-Weiss I, Raoul O, Vekemans M, Romana SP. Le caryotype spectral (SKY), principe, avantages et limites. Ann Biol Clin, 61(2):139-146, 2003

211 Flis-Trèves M, Achour-Frydman N, Kerbrat V, Munnich A, Vekemans M, Frydman RAspects psychologiques du diagnostic génétique pré-implantatoire. J Gynecol Obstet Biol Reprod, 32 :127-131, 2003

212 Satgé D, Jaubert F, Sasco AJ, Vekemans MJ. Are fetus-in-fetu highly differentiated teratomas ? Practical implications. Pediatr Int, 45(3):368, 2003

213 Germanaud D, Audollent S, Augé J, Vekemans M, Attie-Bitach T. Molecular diagnosis for frequent aneuploidies with quantitative fluorescence PCR.Arch Pediatr, 10(4):347-349, 2003

214 Amiel J, Laudier B, Attie-bitach T, Trang H, De Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.

Polyalanine exansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet, 33(4):459-461,2003

215 Vekemans M. Âge maternel et autres facteurs de risqué de la trisomie 21. Ann Biol Clin, 61, 1-3, 2003

216 Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M , Munnich A, Colleaux L, Cormier-Daire V. Spectrum of NSD1 mutations in sotos ans weaver syndromes. J Med Genet, 40(6):436-440, 2003

217 Karmous Benailly H, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP. PMX2B, a new candidate gene for Hirschprung disease. Clin Genet, 64(3):204-209, 2003

218 Martinovic J, Jouannic JM, Benachi A, Fermont L, Encha-Razavi F, Vekemans M, Bonnet D. Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins.Am J Med Genet, 122A(2):183-185, 2003


219 Satgé D, Sasco AJ, chompret A, Orbach D, Mechinaud F, Lacour B, Roullet B, Martelli H, Bergeron C, Bertrand Y, Lacombe D, Perel Y, Monteil P, Nelken B, Bertozzi AI, Munzer M, Kanold J, Bernard F, Vekemans MJ, Sommelet D. A 22-year french experience with solid tumors in children with Down syndrome. Pediatr Hematol Oncol, 20(7):517-529, 2003.

220 De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum Mol Genet, Oct 7, 2003.

221 Achour-Frydman N, Tachdjian G, Ray P, Romana S, Hamamah S, Marcadet-Fredet S, Kerbrat V, Fanchin R, Kadoch J, Attié T, Lelorc’h M, Vekemans M, Munnich A, Frydman R. Le diagnostic génétique pré-implantatoire : premier bilan du groupe parisien. Andrologie, 13, N° 3, 259-264, 2003

222 Brisset S, Romana S, Texier I, Lapierre JM, North MO, Vekemans M, Morichon-Delvallez N. CGH analysis in a cohort of 17 chromosomally normal fetuses with anincreased nuchal translucency. Prenat Diagn, 23(12):1017-1018,2003

223 Satgé D, Sasco AJ, Goldgar D, Vekemans M, Réthoré MO. A 23-year-old woman with Down syndrome, type 1 neurofibromatosis, and breast carcinoma. Am J Med Genet, 125A:94-96,2004

224 Lapierre JM, Sanlaville D, Kang J, Ozilou C, Le Lorc’h M, Waill MC, Prieur M, Colleaux

L, Munnich A, Turleau C, Benkhalifa M, Mohammed M, Vekemans M, Romana S. Evaluation de la puce à ADN « Spectralchip » pour la détection des déséquilibres chromosomiques observés en pathologie constitutionnelle. Ann Biol Clin, 62:203-212,2004

225 Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit Ch, Brunelle, Munnich A, Vekemans M, Encha-Razavi F.Neocortical neuronal arrangement in LIS 1 and DCX lissencephaly may be different.Am J Med Genet, 126A(2):123-128,2004

226 Espinosa-Parrilla Y, Encha-Razavi F, Attie-Bitach T, Martinovic J, Morichon-Delvallez N, Munnich A, Vekemans M , Lyonnet S. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolate agenesis of the corps callosum. Prenat Diagn,24(4):298-301, 2004

227 Pinson L, Augé J, Audollent S, Mattei G, Etchevers H, Gigarel N, Razavi F, Lacombe D,


Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, Attie-Bitach T. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet, 41(5):381-386, 2004

228 Satgé D, Ott G, Sasco AJ, Mircher C, Vekemans M, Ludwig L, Grob JC. A low-grade follicular thyroid carcinoma in a woman with Down syndrome. Tumori 90(3): 333-6, 2004

229 Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clin Genet 66(2):122-7, 2004

230 Le Dû A, Le Lorc’h M, Frydman N, Benkhalifa M, Romana S, Vekemans M, Frydman R, Tachdjian G. Etude de l’apoptose et de la ségrégation méiotique dans les spermatozoïdes d’hommes porteurs d’une translocation Robertsonienne (13 ;14). Xxe congrès de la Société d’Andrologie de langue Française, Orléans, Décembre 2003. Andrologie, 14(2) :186-92, 2004

231 Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N.

An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet, Sep 15, 2004

232 Tabet AC, Gosset P, Elghezal H, Fontaine S, Martinovic J, Encha Razavi F, Romana S, Vekemans M, Morichon-Delvallez N. Prenatal diagnosis and characterization of a marker chromosome 16 containing a neocentromere. Prenat Diagn, Sep 6, 2004

233 Khen N, Jaubert F, Sauvat F, Fourcade L, Jan D, Martinovic J, Vekemans M, Landais P, Brousse N, Leborgne M, Nihoul-Fekete C, Cerf-Bensussan ?, Sarnacki S. Fetal intestinal obstruction induces alteration of enteric nervous. system development in human intestinal atresia. Pediatr Res, Oct 20, 2004

234 Sobrier ML, Attie-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3


defect in light of LHX3 and LHX4 expression during early human development. Gene Expr Patterns, 5(2):279-84, 2004

235 Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M., Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expr Patterns. 2004 Dec;5(2):279-94

236 Molinari F, Raas-Rotschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. Feb;76(2):334-9, 2005

237 Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichov P , Vekemans M, Polak M, Attie-Bitach T. PAX8, TITF1 and FOXE1 gene expression patterns during human development : new insights into human thyroid development : thyroid dysgenesis associated malformations. J Clin Endocrinol Metab 90(1):455-62, 2005

238 Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Augé J, Brahimi N, etchevers H, Detrait E, Esculpavit C, audollent S, Goudefroye G, Gonzalez M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attie-Bitach T. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet, 76(3) 493-504, 2005

239 Cai J, David A, Kotch LE, Jabs EW, Attie-Bitach T, Augé J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, and Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet, 14(07), 903-912, 2005

240 Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attie T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet. 2006 Feb;43(2):138-42.

241 Sanlaville D, Prieur M, de Blois MC, Geneviève D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet. 2005 May ;13(5) :579-85.

242 Sanlaville D, Geneviève D, Bernardin C, Amiel J, Baumann C, de Blois MC, cormier-


Daire V, Gérard B, Gérard M, le Merrer M, Parent P, Prieur F, prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet. 2005 May ;13(5) :690-3.

243 Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. NTD Collaborative Group. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet. 2005 Jul;117(2-3):133-42.

244 Oey NA, Den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attie-Bitach T. Long-chain fatty acid oxidation during early human development. Pediatr Res. 2005 Jun57(6):755-9.

245 Flis-Treves M, Frydman N, Frydman R, Kerbrat V, Munnich A ,Vekemans M. Pre- implantation genetic diagnosis and spontaneous pregnancies : an unexpected acting out. Gynecol Obstet & Fertilité 33 (2005) 235-238.

246 Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani –Samara D, Pinto G, Ozilou C, Abeguile G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre-and postnatal growth retardation and intractable feeding difficulties. Eur J Hum Genet. 2005;13(9):1033-9.

247 Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruau C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006 Mar ;43(3):211-217

248 Sanlaville D, Lapierre JM, Coquin A, Turleau C, Vermeesch J, Colleaux L, Borck G, Vekemans M, Aurias A, Romana SP. Microarray CGH: principle and use for constutional disorders. Arch Pediatr. 2005 Oct ;12(10) :1515-20.

249 Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellane C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fekete C, Vekemans M, Junien C, de Lonlay P. Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet. 2006 Mar ;43(3) :248-54.


250 Frydman N, Romana S, Ray P, Hamamah S, Tachdjian G, Marcadet-Fredet S, Munnich A, Vekemans M, Frydman R. The Paris experience in preimplantation genetic diagnosis: evaluation after the first Births. Ann Endocrino (Paris) 2005 Jun;66(3):294-301.

251 Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Humanneural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol. 2005 May-Jun;27(3):515-24.

252 Feyereisen E, Amar A, Kerbrat V, Steffann J, Munnich A, Vekemans M, Frydman R, Frydman N. Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation? Hum Reprod. 2006 Jan;21(1):175-82.

253 Turleau C, Vekemans M. New developments in cytogenetics. Med Sci(Paris). 2005 Nov;21(11):940-6.

254 Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP. Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet. 2005 Jul-Sep ;48(3) :214-231.

255 Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attié-Bitach T, Michael L, Scott AF, Beaty TH. High Throughput SNP and Expression Analyses of Candidate Genes for Non-syndromic Oral Clefts. Jmed Genet. 2006 Jul;43(7):598-608.

256 Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Andrieu J, Lai JL, Terre C, Rack K, Cornillet-Lefebvre P, Luquet I, Nada N, Nguyen-Khac F, Perot C, Van den Akker J, Fert-Ferrer S, Cabrol C, Charrin C, Tigaud I, Poirel H, Vekemans M, Bernard OA, Berger R. NUP98 rearrangements in hematopoietic malignancies: a study fo the Groupe Francophone de Cytogenetique Hématologique. Leukemia.2006 Apr;20(4):696-706

257 Malan V, Martinovic J, Sanlaville D, Caillat S, Perrier Wail MC, Maurin Ganne ML, Tantau J, Attié-Bittach T, Vekemans M., Morichon-Delvallez N. Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenatal Diagn. 2006 Mar;26(3):231-8.

258 Geneviève D, Faivre L, Gosset P, Sanlaville D, Monceaux F, Bonnet M, Ozilou C, Munich A, Turleau C, Romana S, Prieur M, Vekemans M, Cormier-Daire V, Raoul O. Paternal deletion of the GNAS imprinted (including Gnasxl) in two girls presenting with severe pre-and post-natal growth retardation and intractable feeding difficulties Eur J Human Genet. 2005 Sep;13(9):1033-9.


259 Satgé D, Honoré L, Sasco AJ, Vekemans M, Chompret A, Réthoré MO. An ovarian dysgerminoma in Down syndrome. Hypothesis about the association. Int J Gynecol Cancer, 2006 Jan-Feb;16 Suppl 1:375-9

260 Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdaye C, de Blois Marie-Christine, Geneviève D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy reflecting cooperation between the BMPR1A and PTEN tumor suppressor genes. Am J Hum Genet. 2006 Jun;(6):1066-74.

261 Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion : clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet. 2006 Jun;14(6):759-67.

262 M. Chaabouni, J. Martinovic, D. Sanlaville, T. Attié-Bitach, S. Caillat, C. Turleau, M. Vekemans and N. Morichon. Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion. Eur J Hum. Genet 2006 November-December;49(6):487-493.

263 Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MV, Philippe A, Vekemans M, Romana SP. Molecular cytogenetic analysis of five 2q37 deletions : refining the brachydactyly candidate region. Eur J Med Genet. 2006 May-Jun;49(3):255-63

264 Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, Philippe A. Array-based comparative genomic hybridization identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006 Nov;43(11):843-9

265 Feyereisen E, Romana S, Kerbrat V, Steffan J, Gigarel N, Lelorc’h M, Burlet P, Ray P, Hamamah S, Chevalier N, Fanchin R, Foix-L’helias L; Tachdjian G, Munnich A, Frydman R, Vekemans M, Frydman N. Preimplantation genetic diagnosis (PGD): results from a parisian center. J Gynecol Obstet Biol Reprod (Paris). 2006 Jun;35(4):356-72

266 Szinnai G, Lacroix L, Carre A, Guimiot F, Talbot M, Martinovic J, Delezoide, Vekemans M, Michiel S, Caillou B, Schlumberger M, Bidart JM, Polak M.Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus. J Clin Endocrinol Metab. 2006 Oct 31.

267 Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroy G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC. Cytogenetic and histological features of a


human embryo with homogeneous chromosome 8 trisomy. Prenat Diagn. 2006 Dec;26(13):1201-5.

268 Malan V, Vekemans M, Turleau C. Chimera and othe fertilization errors. Clin Gent. 2006 Nov;70(5):363-373.

269 Satge D, Sasco AJ, Vekemans M, ¨Portal M, Flejou JF. Aspects of Digestive Tract Tumors in Down Syndrome: A litterature review. Dig Dis Sci.2006 Nov;51(11):2053-2061.

270 Oey NA, Ruitter JP, Ijlst L, Attié-Bitach T, Vekemans M, Wanders RJ, Wijburg FA. Acyl-CaA dehydrogenase 9(ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochem Biophys Res Commun. 2006 Jul 21;346(1):33-7.

271 Szinnai G, Lacroix L. Carre A, Guimiot F, Talbot M, Martinovic J, Delezoide AL,Vekemans M, Michiel S, Caillou B, Schlumberger M, Bidart JM, Polak M.. Sodium/iodie symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus. J Clin Endocrinol Metab. 2007 Jan;92(1):70-76

272 Martinovic-Bouriel J, Bernabe-Dupont C, Golzio C, Grattagliano-Bessieres B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A. Matthew-Wood syndrome:Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A. 2007 Feb ; 143(3):219-28

273 Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Folliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attié-Bitach T. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007 Jan;80(1):186-94

274 Malan V, Gesny R, Morichon-Delvallez N, Aubry MC; Benachi A, Sanlaville D, Turleau C, Bonnefont JP, Fekete-Nihoul C, Vekemans M. Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera:a case report. Human Reprod.2007 Apr;22(4):1037-41.

275 Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH. Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. Am J Kidney dis. 2007 Feb;49(2):323-329

276 Martinovic-Bouriel J, Bernabe-Dupont C, Golzio C, Grattagliano-Bessieres B, Malan V, Bonniere M, Esculpavit C, Fattet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC,


Vekemans M, Morichon N, Etchevers H, Attie-Bittach T, Encha-Razavi F, Benachi A. Matthew-Wood syndrome:report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A.2007 Feb 1;143(3):219-28.

277 Khadour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq, Ozilou C, Cullinane A, Kyttala M, Shave S, Audollent S, d’Humières C, Kadhom N, Esculpalvit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Gebub E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T;SOFFOET (Société Française de Foetopathologie). Spectrum of MKS1 and MKS3 mutations in Meckel syndrome:a genotype-phenotype correlation. Mutation in brief#960. Hum Mutat. 2007 May;28(5):523-4

278 Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M. Genotype-phenotype correlation of 30 patients with Smith-Magenis Syndrome (SMS) using CGH-array:cleft palate in SMS is associated with larger deletions. J Med Genet. 2007 Aug;44(8)537-40

279 Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessières B, Bonnière Maryse, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T, Etchevers HC. Matthew-Wood Syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am Journal Hum Genet. 2007 Jun;80(6):1179-87.

280 Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S. Saunier S, Salomon R, Gonzales M, Rattenberg E, Esculpavit C, Toutain A, Mmoraine C, Parent P, Marcorelles P, Dauge MC, Roumel J, Merrer ML, Meiner V, Meir K, Menez F, Beaufrere AM, Francannet C, Tantau J, Sinico M, Dumez Y, Macdonald F, Munnich A, Lyonnet S, Gubler MC, Genin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bittach T. Pleiotropic Effects of CEP290 (NPHP6) mutations extend to Meckel Syndrome. Am J Hum Genet. 2007 Jul;81(1):170-9.

281 Trochet D, Pontual LD, Keren B, Munnich A, Vekemans M, Lyonnet S, Amiel J. Polyalanine expansions might not result from unequal crossing-over. Hum.mutat.2007

Oct;28(10)1043-4.

282 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Bessel L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silvermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Jonhson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury


S, Attié-Bittach T. The ciliary gene RPGRIP1l is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81

283 Souraty N, Sanlaville D, Chedid R, Le Lorc’h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Megarbane A. Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q. Eur J Med Genet. 2007 Sep-Oct;50(5):379-85

284 Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Pure proximal deletion of chromosome 21 and kyphosis. Eur J Med Genet. 2007 Aug 15

285 Soler G, Radford-Weiss I, Ben-Abdelali R, Mahlaoui N, Ponceau JF, Macintyre EA, Vekemans M, Bernard OA, Romana SP. Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation. Leukemia 2007 22(6):127-80

286 Quenum-Miraillet G, Malan V, Martinovic J, Encha-Razavi F, Aral B, Texier I, Bonnefont JP, Vekemans M, Morichon-Delvallez N. Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasie. Prenat Diagn. 2008 Jan 10;28(1):69-71.

287 Malan V, de Blois MC, Prieur M, Perrier-Waill MC, Huguet-Nedjar C, Gegast L, Turleau C, Vekemans M, Munnich A, Somana SP. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene. Clin Genet. 2008 Jan;73(1):89-91.

288 Encha-Razavi F, Gonzalès M, Laquerrière A, Martinovic J, Sinico M, Allias F, Bonnière M, Esculpavit C, Gérard M, Attié-Bitach T, Vekemans M. A pratical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 2008 Feb;40(2):180-7.

289 Stamm DS, Siegel DG, Mehltretter, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group. Refinement of 2 q and 7p loci in a large multiplex NTD family. Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):441-52.

290 Thomas S, Thomas M, Wincker P, Barbarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC (2008 Aug) Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet.2008 Nov 1;17(21):3411-25.

291 de Pontual L, Mathieu Yves, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S,


Amiel J. Mutational functional and expression studies of the TCF4 gene in Pitt-Hopkins Syndrome. Hum Mutat. 2009 Apr;30(4):669-76.

292 Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L. Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L. 19q13.11 deletion syndrome: a novel clinically recognizable genetic condition identified by array-CGH. J Med Genet. 2009 Jan 6

293 Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A,

Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009 Mar;41(3):359-64. Epub 2009 Feb 22

294 Soler G, Nusbaum S, Varet B, Macintyre EA, Vekemans M, Romana SP, Radford-Weiss I. LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferatie syndrome. Leukemia. 2009 Jul;23(7):1359-61.

295 Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attié-Bitach T, Encha-Razavi F. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases. Eur J Med Genet 2009 Nov-Des;52(6):368-92.

296 Cavalcanti DP, Huber C, Le Quan Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M., Munnich A, Cormier-Daire V. Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet. 2009 Aug 11.

297 Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat. 2009 Bov;30 (11):1574-82.

298 Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, MorichonDelvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire, Colleaux L. Array-based comparative genomic hybridization identifies a high frequency


http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Benko%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Benko%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fantes%20JA%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fantes%20JA%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Amiel%20J%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Amiel%20J%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Kleinjan%20DJ%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Kleinjan%20DJ%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Thomas%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Thomas%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Ramsay%20J%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Ramsay%20J%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Jamshidi%20N%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Jamshidi%20N%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Essafi%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Essafi%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Heaney%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Heaney%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Gordon%20CT%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Gordon%20CT%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22McBride%20D%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22McBride%20D%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Golzio%20C%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Golzio%20C%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fisher%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fisher%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Perry%20P%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Perry%20P%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Abadie%20V%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Abadie%20V%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Ayuso%20C%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Ayuso%20C%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Holder-Espinasse%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Holder-Espinasse%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Kilpatrick%20N%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Kilpatrick%20N%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Lees%20MM%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Lees%20MM%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Picard%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Picard%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Temple%20IK%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Temple%20IK%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Thomas%20P%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Thomas%20P%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Vazquez%20MP%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus




http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Vekemans%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Vekemans%20M%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Crollius%20HR%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Crollius%20HR%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Hastie%20ND%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Hastie%20ND%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Munnich%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Munnich%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Etchevers%20HC%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Etchevers%20HC%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Pelet%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Pelet%20A%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Farlie%20PG%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus




http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fitzpatrick%20DR%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Fitzpatrick%20DR%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Lyonnet%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Lyonnet%20S%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus

of copy number variations in patients with syndromic overgrowth. Eur J Hum Genet. 2010 Feb;18(2)227-32

299 Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not he MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet. 2010 Mar;18(3):285-90

300 Chaabouni M, Etchevers H, de Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP. Identification of the IRX B genes cluster as candidate genes in severe dhysgenesis of the ocular anterior segment. Invest Ophtalmol Vis Sci. 2010 Sep;51(9)4380-6

301 Turleau C, Vekemans M. Trisomy 21: fifty years betwenn medicine and science. Med Sci (Paris). 2010 Mar;26(3):267-72. Review. French

302 Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC. PAX 2 mutations in fetal renal hypodysplasia. Am J Med Genet A, 2010 Apr;152A(4):830-5.

303 Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Lanicelli M,

Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzota A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM; Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Ingleheam C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsani N, Johnson CA, Attié-Bittach, Gleeson JG. Nat. Mutations in TMEM216 perturb cilliogenesis and cause Joubert Meckel and related syndromes. Nat Genet 2010 Jul;42(7):619-25

304 Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmejier A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, Vekemans M, Bouvier R, Attié-Bitach T. BBS10 mutations are common in “Meckel”-type cystic kidneys. J Med Genet 2010 Dec;47(12):848-52.

305 Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessières-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat 2010 Oct31(10):1134-41.


306 Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, Van Haeringen A, Mortier G, Nampoothiri S, Puselijic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 2010 Aug 13;87(2):189-98.

307 Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T. Should PMM2-deficiency (CDG la) be searched in every case of unexplained hydrops fetalis ? Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7.

308 Putoux Audrey, Thomas Sophie, Coene Karlien, Davis Erica E, Alanay Yasemin, Ogur Gönül, Uz Elif, Buzas Daniela, Gomes Céline, Patrier Sophie, Bennett Christopher L, Elkhartoufi Nadia, Saint Frison Marie-Hélène, Rigonnot Luc, Joyé Nicole, Pruvost Solenn, Utine Gulen Eda, Boduroglu Koray, Nitschke Patrick, Fertitta Laura, Thauvin Christel, Munnich Arnold, Cormier-Daire Valérie, Hennekam Raoul, Colin Estelle, Akarsu Nurten A, Bole-Feysot Christine, Cagnard Nicolas, Schmitt Alain, Goudin Nicolas, Lyonnet Stanislas, Encha-Razavi Férechté, Siffroi Jean-Pierren Winez Mark, Katsani Nicholas, Gonzales Marie, Vekemans Michel, Beales Philip L., Attié-Bitach Tania. Costal2 (KIF7) mutations cause fetal hydrolethalus and acrocallosal syndromes and expand the ciliopathy spectrum. Nature Genetics 2011 Jun;43(6):601-6

309 Cognet M, Nougayerede A, Malan V, Callier P, Cretole C, Faivre L, Geneviève D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaud S, Verloes A, Sarnaki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet 2011 Jan 12

310 Satgé D, Vekemans M. Down syndrome patients are less likely to develop some (but not all) malignant solid tumours. Clin Genet 2011: 79: 289-290

311 Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. ISL1 Directly Regulates FGF10 Transcription during human Cardiac Outflow Formation. PloS One. 2012;7(1):e30677.

312 Werf CS, Wabbersen TD, Hsiao NH, Paredes J. Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ljzendoorn SC, Schepherd IT, Vertheij JB, Hofstra RM. CLMP IS Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome. Gastroenterology. 2011 Dec 7. Epub ahead of print.


313 Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012 Feb;33(2):440-7.

314 de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N; Lees M, Balu L, Lachassine E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L; Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerozey I, Amiel J. Gemline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat.2011 Mar;32(3):272-6.

315 Lamazou F, Steffan J, Frydman N, Burlet P, Gigarel N, Romana S, Bonnefont JP, Lelorch M; Hesters L; Franchin R, Kerbrat V, Vekemans M, Munnich A, Frydman R. J Gynecol Obstet Biol Reprod (Paris). 2011 Nov;40(7):682-6.

316 de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Claude A, Ventura A, Amiel J. Gemline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet 2011 Sep 4;43(10):1026-30.

317 Thomas S, Encha-Razavi F, Devisme L. Etchevers H; Bessières-Grattagliano B, Goudefroy G, Elkhartoufi N, Pateau E, Ichkou, A, Bonnière M. Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M; Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T. High-throughput sequencing of a 4.1Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mut 2010 Oct 31(10):1134-41.

318 Frydman R, Achour-Frydman N, Steffann J, Lamazou F, Fanchin R, Burlet P, Gigarel N, Romana S, Bonnefont JP, Le Lorch M, Kerbrat V, Hesters L, Munnich A, Vekemans M. [Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].Bull Acad Natl Med. 2011 Apr-May;195(4-5):1005-13;

319 Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; National Birth Defects Prevention Study. Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92.


http://www.ncbi.nlm.nih.gov/pubmed/22375366








320 Thomas S, Legendre M, SaunierS, Bessières B, Alby C, Bonnière M,ToutainA,Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. TTCTN3 mutations cause Mohr-Majewski syndrome.Am J Hum Genet. 2012 Aug 10;91(2):372-8.

321 Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 2012 Nov;49(11):698-707.

322 Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Maldergem LV, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.Clin Genet. 2012 Oct 4.

323 Rio M, Royer G, Gobin S, de Blois M, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Turleau C, Malan V. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. Clin Genet. 2012 Oct 15.

324 Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012 Nov;49(11):713-20.

325 Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de
























Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet. 2012 Dec;49(12):737-46.

326 Satgé D, Stiller CA, Rutkowski S, von Bueren AO, Lacour B, Sommelet D, Nishi M, Massimino M, Garré ML, Moreno F, Hasle H, Jakab Z, Greenberg M, von der Weid N, Kuehni C, Zurriaga O, Vicente ML, Peris-Bonet R, Benesch M, Vekemans M, Sullivan SG, Rickert C. A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries. J. Neurooncol. 2013 Mar;112(1):107-14.

327 Vekemans M. Birth Defects Res A Clin Mol Teratol. 2013 Jan;97(1):1.










NOM Michel, Jean-Jacques VEKEMANS MD, PhD,...

Documents

Transcript of NOM Michel, Jean-Jacques VEKEMANS MD, PhD,...