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

Pituitary Gland, Endocrine Disease, Human Growth +9

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 · 273 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

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

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

Receptor Homodimerization, Signal Transduction, Growth Hormone +11

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 · Full text

Human Growth, Cytoplasmic Domain, Cell Signaling +17