Clémentine Mahaut

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

Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Slimane Allali, Carine Le Goff, I. Pressac-Diebold et al. · Journal of Medical Genetics · 2011 · 56 citations · Full text

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot, Carine Le Goff, Clémentine Mahaut et al. · European Journal of Human Genetics · 2014 · 53 citations · Full text

Immunology, Pathology, Molecular Review +3

Agonists of prostaglandin E ₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Hugo García, Alice Serafin, Flora Silbermann et al. · Proceedings of the National Academy of Sciences · 2022 · 43 citations · Full text

Renal Pathology, Renal Inflammation, Prostaglandin E1 +23