Amselem S - Search Results

1

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S. Sobrier ML, et al. Among authors: amselem s. J Clin Endocrinol Metab. 2006 Nov;91(11):4528-36. doi: 10.1210/jc.2006-0426. Epub 2006 Aug 29. J Clin Endocrinol Metab. 2006. PMID: 16940453

2

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S. Sobrier ML, et al. Among authors: amselem s. J Clin Endocrinol Metab. 2012 Mar;97(3):E503-9. doi: 10.1210/jc.2011-2095. Epub 2012 Jan 11. J Clin Endocrinol Metab. 2012. PMID: 22238406

3

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M. Cohen E, et al. Among authors: amselem s. J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158. J Clin Endocrinol Metab. 2017. PMID: 27820671

4

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vié-Luton MP, Van Vliet G, Amselem S. Sobrier ML, et al. Among authors: amselem s. Hum Mutat. 2005 May;25(5):503. doi: 10.1002/humu.9332. Hum Mutat. 2005. PMID: 15841484

5

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML. Pérez C, et al. Among authors: amselem s. Eur J Endocrinol. 2012 Jul;167(1):85-91. doi: 10.1530/EJE-12-0026. Epub 2012 Apr 24. Eur J Endocrinol. 2012. PMID: 22535646

6

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L. Fritez N, et al. Among authors: amselem s. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. doi: 10.1111/cen.12706. Epub 2015 Feb 6. Clin Endocrinol (Oxf). 2015. PMID: 25557026

7

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S. Pantel J, et al. Among authors: amselem s. J Clin Endocrinol Metab. 2009 Nov;94(11):4334-41. doi: 10.1210/jc.2009-1327. Epub 2009 Sep 29. J Clin Endocrinol Metab. 2009. PMID: 19789204

8

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 ML, Amselem S. Tenenbaum-Rakover Y, et al. Among authors: amselem s. Clin Endocrinol (Oxf). 2011 Aug;75(2):214-9. doi: 10.1111/j.1365-2265.2011.04028.x. Clin Endocrinol (Oxf). 2011. PMID: 21521297

9

Molecular basis of inherited growth hormone resistance in childhood.

Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M. Amselem S, et al. Baillieres Clin Endocrinol Metab. 1996 Jul;10(3):353-69. doi: 10.1016/s0950-351x(96)80485-x. Baillieres Clin Endocrinol Metab. 1996. PMID: 8853444 Review.

10

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S. Sobrier ML, et al. Among authors: amselem s. J Clin Endocrinol Metab. 1997 Feb;82(2):435-7. doi: 10.1210/jcem.82.2.3725. J Clin Endocrinol Metab. 1997. PMID: 9024232

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