The ADAMTS(L) family and human genetic disordersGOFF, Carine Le; CORMIER-DAIRE, Valérie.Human molecular genetics (Print). 2011, Vol 20, Num 2, issn 0964-6906, R163-R167, NSArticle

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

From Tall to Short: The Role of TGFβ Signaling in Growth and Its DisordersLE GOFF, Carine; CORMIER-DAIRE, Valérie.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 145-153, issn 1552-4868, 9 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

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic DysplasiasLE GOFF, Carine; MAHAUT, Clementine; BRADY, Angela F et al.American journal of human genetics. 2011, Vol 89, Num 1, pp 7-14, issn 0002-9297, 8 p.Article

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndromeLE GOFF, Carine; MAHAUT, Clémentine; MARLIN, Sandrine et al.Nature genetics. 2012, Vol 44, Num 1, pp 85-88, issn 1061-4036, 4 p.Article

Identification of CANT1 Mutations in Desbuquois DysplasiaHUBER, Céline; OULES, Bénédicte; KREBS, Alexander et al.American journal of human genetics. 2009, Vol 85, Num 5, pp 706-710, issn 0002-9297, 5 p.Article

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

Exome Sequencing Identifies PDE4D Mutations as Another Cause of AcrodysostosisMICHOT, Caroline; LE GOFF, Carine; LYONNET, Stanislas et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 740-745, issn 0002-9297, 6 p.Article