Anomalies fœtales : le diagnostic par la prise de sang ?VEKEMANS, Michel; LOCHOUARN, Martine.Concours médical (Paris). 2002, Vol 124, Num 14, pp 915-917, issn 0010-5309Article

Nouvelles données en génétique chromosomique = New developments in cytogeneticsTURLEAU, Catherine; VEKEMANS, Michel.MS. Médecine sciences. 2005, Vol 21, Num 11, pp 940-946, issn 0767-0974, 7 p.Article

Trisomie 21: 50 ans entre médecine et science = Trisomy 21: fifty years between medicine and scienceTURLEAU, Catherine; VEKEMANS, Michel.MS. Médecine sciences. 2010, Vol 26, Num 3, pp 267-272, issn 0767-0974, 6 p.Article

Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determinationRAY, Pierre F; VEKEMANS, Michel; MUNNICH, Arnold et al.Molecular human reproduction. 2001, Vol 7, Num 5, pp 489-494, issn 1360-9947Article

Confined placental mosaicism and genomic imprintingKALOUSEK, Dagmar K; VEKEMANS, Michel.Baillière's best practice & research. Clinical obstetrics & gynaecology. 2000, Vol 14, Num 4, pp 723-730, issn 1521-6934Article

Aspect anténatal des ciliopathies: hétérogénéité clinique et génétique = Antenatal ciliopathies: clinical and genetic heterogeneityPUTOUX, Audrey; VEKEMANS, Michel; ATTIE-BITACH, Tania et al.MT médecine de la reproduction. 2010, Vol 12, Num 2, pp 90-94, issn 1774-640X, 5 p.Conference Paper

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaCOGNET, Marie; NOUGAYREDE, Agnés; PHILIP, Nicole et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 602-606, issn 1018-4813, 5 p.Article

Pure proximal deletion of chromosome 21 and kyphosisKEREN, Boris; BEMARDIN, Céline; TOUTAIN, Annick et al.European journal of medical genetics. 2007, Vol 50, Num 6, pp 469-474, issn 1769-7212, 6 p.Article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeKARMOUS-BENAILLY, Houda; MARTINOVIC, Jelena; ESCULPAVIT, Chantal et al.American journal of human genetics. 2005, Vol 76, Num 3, pp 493-504, issn 0002-9297, 12 p.Article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeSANLAVILLE, Damien; GENEVIEVE, David; PARENT, Philippe et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 690-693, issn 1018-4813, 4 p.Article

BBS10 mutations are common in 'Meckel'-type cystic kidneysPUTOUX, Audrey; MOUGOU-ZERELLI, Soumaya; DELEZOIDE, Anne-Lise et al.Journal of medical genetics. 2010, Vol 47, Num 12, pp 848-852, issn 0022-2593, 5 p.Article

Matthew-wood syndrome : Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2MARTINOVIC-BOURIEL, Jelena; BERNABE-DUPONT, Céline; AUBRY, Marie-Cécile et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 3, pp 219-228, issn 1552-4825, 10 p.Article

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetusSZINNAI, Gabor; LACROIX, Ludovic; SCHLUMBERGER, Martin et al.The Journal of clinical endocrinology and metabolism. 2007, Vol 92, Num 1, pp 70-76, issn 0021-972X, 7 p.Article

The meckel-gruber syndrome gene, MKS3, is mutated in joubert syndromeBAALA, Lekbir; ROMANO, Stéphane; MUNNICH, Arnold et al.American journal of human genetics. 2007, Vol 80, Num 1, pp 186-194, issn 0002-9297, 9 p.Article

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomyFREMEAUX-BACCHI, Veronique; SANLAVILLE, Damien; MENOUER, Soraya et al.American journal of kidney diseases. 2007, Vol 49, Num 2, pp 323-329, issn 0272-6386, 7 p.Article

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18qSOURATY, Noëlle; SANLAVILLE, Damien; CHEDID, Rima et al.European journal of medical genetics. 2007, Vol 50, Num 5, pp 379-385, issn 1769-7212, 7 p.Article

Actualités sur le diagnostic préimplantatoireTACHDJIAN, Gérard; FRYDMAN, Nelly; STEFFANN, Julie et al.MT médecine de la reproduction. 2006, Vol 8, Num 3, pp 201-208, issn 1774-640X, 8 p.Article

Functional disomy of the Xq28 chromosome regionSANLAVILLE, Damien; PRIEUR, Marguerite; CORMIER-DAIRE, Valerie et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 579-585, issn 1018-4813, 7 p.Article

A 23-year-old woman with down syndrome, type 1 neurofibromatosis, and breast carcinomaSATGE, Daniel; SASCO, Annie J; GOLDGAR, David et al.American journal of medical genetics. 2004, Vol 125A, Num 1, pp 94-96, issn 0148-7299, 3 p.Article

Apoptose et ségrégation méiotique dans les spermatozoïdes d'hommes porteurs de translocations = Apoptosis and meiotic segregation in sperm from men with chromosomal translocationsLE DU, Anne; LELORC'H, Marc; FRYDMAN, Nelly et al.Andrologie (Lille). 2004, Vol 14, Num 2, pp 186-192, issn 1166-2654, 7 p.Article

Apport de la cytogénétique moléculaire au diagnostic des anomalies chromosomiques constitutionnelles = Molecular cytogenetics in constitutional chromosomic disordersPIERRICK ROMANA, Serge; GOSSET, Philippe; ELGHEZAL, Hatem et al.MTP. Médecine thérapeutique pédiatrie. 2001, Vol 4, Num 4, pp 284-290, issn 1286-5494Article

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patientsFAIVRE, Laurence; VEKEMANS, Michel; SANLAVILLE, Damien et al.American journal of medical genetics. 2001, Vol 99, Num 2, pp 166-167, issn 0148-7299Article

Germline deletion of the miR-17~92 cluster causes skeletal and growth defects in humansDE PONTUAL, Loïc; YAO, Evelyn; MANOUVRIER, Sylvie et al.Nature genetics. 2011, Vol 43, Num 10, pp 1026-1030, issn 1061-4036, 5 p.Article

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumCAVALCANTI, Denise P; HUBER, Celine; VEKEMANS, Michel et al.Journal of medical genetics. 2011, Vol 48, Num 2, pp 88-92, issn 0022-2593, 5 p.Article

Diagnostic pré-implantatoire: dix ans d'expérience en région parisienne: impasse actuelle et solutions à venir : Diagnostic pré-implantatoire (DPI). Séance thématique = Ten years'experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutionsFRYDMAN, René; ACHOUR-FRYDMAN, Nelly; KERBRAT, Violaine et al.Bulletin de l'Académie nationale de médecine. 2011, Vol 195, Num 4-5, pp 1005-1013, issn 0001-4079, 9 p.Article