M Le Merrer

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt et al. · Nature Genetics · 1997 · 644 citations

Life Sciences, Genetics, Molecular Genetics +7

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 · 233 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange et al. · The American Journal of Human Genetics · 2012 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Molecular analysis of pericentrin gene (<i>PCNT</i>) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Marjorlaine Willems, D. Genevieve, Guntram Borck et al. · Journal of Medical Genetics · 2009 · 112 citations

Life Sciences, Genetics, Molecular Genetics +14

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation

Elisabeth Lajeunie, Vincent El Ghouzzi, M Le Merrer et al. · Journal of Medical Genetics · 1999 · 79 citations

Medicine, Genetics, Molecular Genetics +14