In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann SyndromeBELLAIS, Samuel; LE GOFF, Carine; DAGONEAU, Nathalie et al.European journal of human genetics. 2010, Vol 18, Num 1, pp 130-132, issn 1018-4813, 3 p.Article

Long-Term Follow-Up in Stuve-Wiedemann Syndrome : A Clinical ReportMENDES GASPAR, Isabel; SALDANHA, Tiago; CABRAL, Pedro et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 13, pp 1748-1753, issn 1552-4825, 6 p.Article

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31CORMIER-DAIRE, Valérie; DAGONEAU, Nathalie; NABBOUT, Rima et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 991-993, issn 0002-9297Article

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

Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndromeDAGONEAU, Nathalie; SCHEFFER, Deborah; NICOLE, Sophie et al.American journal of human genetics. 2004, Vol 74, Num 2, pp 298-305, issn 0002-9297, 8 p.Article

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndromeFAIVRE, Laurence; PRIEUR, Anne-Marie; CORMIER-DAIRE, Valérie et al.American journal of medical genetics. 2000, Vol 95, Num 3, pp 233-236, issn 0148-7299Article

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndromeDAGONEAU, Nathalie; BENOIST-LASSELIN, Catherine; CORMIER-DAIRE, Valérie et al.American journal of human genetics. 2004, Vol 75, Num 5, pp 801-806, issn 0002-9297, 6 p.Article

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeEL GHOUZZI, Vincent; DAGONEAU, Nathalie; TREMBATH, Richard C et al.Human molecular genetics (Print). 2003, Vol 12, Num 3, pp 357-364, issn 0964-6906, 8 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

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndromeROMAN CORONA-RIVERA, J; CORMIER-DAIRE, Valérie; DAGONEAU, Nathalie et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 242-246, issn 1769-7212, 5 p.Article

Identification of mutations in CUL7 in 3-M syndromeHUBER, Céline; DIAS-SANTAGATA, Dora; DAGONEAU, Nathalie et al.Nature genetics. 2005, Vol 37, Num 10, pp 1119-1124, issn 1061-4036, 6 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

RAB23 Mutation in a Large Family from Comoros Islands With Carpenter SyndromeALESSANDRI, Jean-Luc; DAGONEAU, Nathalie; LAVILLE, Jean-Marc et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 982-986, issn 1552-4825, 5 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