Concepedia

Carine Le Goff

CL

Statistics

Publications

31

Citations

2.1K

H-Index

24

Active since

2001

Affiliations

Inserm(Current)

Université Paris Cité

Hôpital Necker-Enfants Malades

Assistance Publique – Hôpitaux de Paris

Sorbonne Paris Cité

Carine Le Goff is an author at Inserm specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

2001–2022

31

Publications

31

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 · 245 citations · Full text

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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

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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 · 156 citations

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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 · 127 citations · Full text

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Adamts9 is widely expressed during mouse embryo development

Katherine A. Jungers, Carine Le Goff, Robert Somerville et al. · Gene Expression Patterns · 2005 · 113 citations

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