Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and SeizuresTHIERRY, Gaelle; BENETEAU, Claire; CAILLEY, Dorothee et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1633-1640, issn 1552-4825, 8 p.Article

Pallister-Killian syndrome: difficulties of prenatal diagnosisDORAY, Bérénice; GIRARD-LEMAIRE, Francoise; GASSER, Bernard et al.Prenatal diagnosis. 2002, Vol 22, Num 6, pp 470-477, issn 0197-3851Article

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulationLE GOFF, Carine; MORICE-PICARD, Fanny; GAOXIANG GE et al.Nature genetics. 2008, Vol 40, Num 9, pp 1119-1123, issn 1061-4036, 5 p.Article

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndromeFLORI, Elisabeth; GIRODON, Emmanuelle; GOOSSENS, Michel et al.European journal of human genetics. 2005, Vol 13, Num 9, pp 1013-1018, issn 1018-4813, 6 p.Article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyNAVARRO, Claire L; DE SANDRE-GIOVANNOLI, Annachiara; FAIVRE, Laurence et al.Human molecular genetics (Print). 2004, Vol 13, Num 20, pp 2493-2503, issn 0964-6906, 11 p.Article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaALLALI, Slimane; LE GOFF, Carine; DROUIN-GARRAUD, Valéie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, issn 0022-2593, 5 p.Article

Genetic Compensation in a Human Genomic DisorderCARELLE-CALMELS, Nadège; SAUGIER-VEBER, Pascale; FEHRENBACH, Séverine et al.The New England journal of medicine. 2009, Vol 360, Num 12, pp 1211-1216, issn 0028-4793, 6 p.Article

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+ 15kbde15.3kb (or CFTRdele19)COSTES, Bruno; GIRODON, Emmanuelle; VIDAUD, Dominique et al.Clinical chemistry (Baltimore, Md.). 2000, Vol 46, Num 9, pp 1417-1420, issn 0009-9147Conference Paper

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutationsPHILIBERT, Pascal; AUDRAN, Françoise; JOURNEL, Hubert et al.Fertility and sterility. 2010, Vol 94, Num 2, pp 472-476, issn 0015-0282, 5 p.Article

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient : A cytogenetic pitfallCARELLE-CALMELS, Nadège; GIRARD-LEMAIRE, Francoise; CARON, Olivier et al.European journal of medical genetics. 2008, Vol 51, Num 6, pp 547-557, issn 1769-7212, 11 p.Article

Prenatal sonographic diagnosis of the 49,XXXXY syndromeSCHLUTH, Caroline; DORAY, Bérénice; GIRARD-LEMAIRE, Francoise et al.Prenatal diagnosis. 2002, Vol 22, Num 13, pp 1177-1180, issn 0197-3851, 4 p.Article

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type IIIDAGONEAU, Nathalie; GOULET, Marie; CAVALCANTI, Denise et al.American journal of human genetics. 2009, Vol 84, Num 5, pp 706-711, issn 0002-9297, 6 p.Article

SRPX2 mutations in disorders of language cortex and cognitionROLL, Patrice; RUDOLF, Gabrielle; SEEGMULLER, Caroline et al.Human molecular genetics (Print). 2006, Vol 15, Num 7, pp 1195-1207, issn 0964-6906, 13 p.Article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesFLORI, Elisabeth; BIANCALANA, Valérie; GIRARD-LEMAIRE, Francoise et al.European journal of human genetics. 2004, Vol 12, Num 3, pp 181-186, issn 1018-4813, 6 p.Article

Gastrointestinal stromal tumor in an XYY/XY maleLIMACHER, Jean-Marc; GIRARD-LEMAIRE, Francoise; JEANDIDIER, Eric et al.Cancer genetics and cytogenetics. 2002, Vol 133, Num 2, pp 152-155, issn 0165-4608Article