| Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities. Perez C., Dastot-Le Moal F., Collot N., Legendre M., Abadie I., Bertrand A.M., Amselem S., Sobrier M.L.
Eur. J. Endocrinol. 167:85-91(2012) · Mapped (2) |
| Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. Sobrier M.L., Brachet C., Vie-Luton M.P., Perez C., Copin B., Legendre M., Heinrichs C., Amselem S.
J. Clin. Endocrinol. Metab. 97:E503-9(2012) · Mapped (6) |
| A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood. Tenenbaum-Rakover Y., Sobrier M.L., Amselem S.
Clin. Endocrinol. (Oxf) 75:214-219(2011) · Mapped (2) |
| Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. Sobrier M.L., Maghnie M., Vie-Luton M.P., Secco A., di Iorgi N., Lorini R., Amselem S.
J. Clin. Endocrinol. Metab. 91:4528-4536(2006) · Mapped (1) |
| Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Sobrier M.L., Attie-Bitach T., Netchine I., Encha-Razavi F., Vekemans M., Amselem S.
Gene Expr. Patterns 5:279-284(2004) · Mapped (11) |
| Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection. Borensztajn K., Sobrier M.L., Fischer A.M., Chafa O., Amselem S., Tapon-Bretaudiere J.
Blood 102:561-563(2003) · Mapped (5) |
| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Machinis K., Pantel J., Netchine I., Leger J., Camand O.J.A., Sobrier M.-L., Dastot-Le Moal F., Duquesnoy P., Abitbol M., Czernichow P. et al.
Am. J. Hum. Genet. 69:961-968(2001) · UniProtKB (1) · Mapped (4) |
| Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Netchine I., Sobrier M.-L., Krude H., Schnabel D., Maghnie M., Marcos E., Duriez B., Cacheux V., Moers A.V., Goossens M. et al.
Nat. Genet. 25:182-186(2000) · UniProtKB (1) · Mapped (5) |
| Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. Pantel J., Machinis K., Sobrier M.-L., Duquesnoy P., Goossens M., Amselem S.
J. Biol. Chem. 275:18664-18669(2000) · UniProtKB (11) |
| In Drosophila Kc cells 20-OHE induction of the 60C beta3 tubulin gene expression is a primary transcriptional event. Chapel S., Sobrier M.L., Montpied P., Micard D., Bruhat A., Couderc J.L., Dastugue B.
Insect Mol. Biol. 2:39-48(1993) · Mapped (1) |
| Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. Sobrier M.-L., Dastot F., Duquesnoy P., Kandemir N., Yordam N., Goossens M., Amselem S.
J. Clin. Endocrinol. Metab. 82:435-437(1997) · UniProtKB (1) |
| Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. Dastot F., Sobrier M.-L., Duquesnoy P., Duriez B., Goossens M., Amselem S.
Proc. Natl. Acad. Sci. U.S.A. 93:10723-10728(1996) · UniProtKB (1) |
| Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Amselem S., Duquesnoy P., Duriez B., Dastot F., Sobrier M.-L., Valleix S., Goossens M.
Hum. Mol. Genet. 2:355-359(1993) · UniProtKB (1) |
| 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. Duquesnoy P., Sobrier M.-L., Duriez B., Dastot F., Buchanan C.R., Savage M.O., Preece M.A., Craescu C.T., Blouquit Y., Goossens M. et al.
EMBO J. 13:1386-1395(1994) · UniProtKB (1) |
| 20-OH-ecdysone regulates 60 C beta tubulin gene expression in Kc cells and during Drosophila development. Sobrier M.L., Chapel S., Couderc J.L., Micard D., Lecher P., Somme-Martin G., Dastugue B.
Exp. Cell Res. 184:241-249(1989) · Mapped (1) |
| Regulatory elements in the first intron contribute to transcriptional regulation of the beta 3 tubulin gene by 20-hydroxyecdysone in Drosophila Kc cells. Bruhat A., Tourmente S., Chapel S., Sobrier M.L., Couderc J.L., Dastugue B.
Nucleic Acids Res. 18:2861-2867(1990) · Mapped (1) |
