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247 results

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Page 1
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
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
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Among authors: amselem s. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073779 Free PMC article.
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW. Blum WF, et al. Among authors: amselem s. EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25. EBioMedicine. 2018. PMID: 30266296 Free PMC article.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M. Cohen E, et al. Among authors: amselem s. Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6. Hum Mutat. 2019. PMID: 31231873
247 results