Marie‐Laure Sobrier

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine, Marie‐Laure Sobrier, Heiko Krude et al. · Nature Genetics · 2000 · 366 citations

Medicine, Genetics, Molecular Genetics +16

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 274 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier et al. · Journal of Biological Chemistry · 2000 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.

Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez et al. · The EMBO Journal · 1994 · 156 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

Florence Dastot, Marie‐Laure Sobrier, Philippe Duquesnoy et al. · Proceedings of the National Academy of Sciences · 1996 · 145 citations

Life Sciences, Endocrinology, Molecular Biology +16