Carine Le Goff

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Carine Le Goff, Fanny Morice‐Picard, Nathalie Dagoneau et al. · Nature Genetics · 2008 · 238 citations · Full text

Tissue Development, Adamtsl2 Mutations, Developmental Genetics +6

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 228 citations · Full text

Fibrosis, Developmental Biology, Signal Transduction +8

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar et al. · Nature Genetics · 2011 · 151 citations

Mad Homology 2, Mendelian Disorder, Genetic Disorder +7

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Caroline Michot, Carine Le Goff, Alice Goldenberg et al. · The American Journal of Human Genetics · 2012 · 123 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

Carine Le Goff, Robert Somerville, Frédéric Kesteloot et al. · Development · 2006 · 110 citations · Full text