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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. McNay DE, et al. Among authors: kelberman d. J Clin Endocrinol Metab. 2007 Feb;92(2):691-7. doi: 10.1210/jc.2006-1609. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148560
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC, Dattani MT. Padidela R, et al. Among authors: kelberman d. J Clin Endocrinol Metab. 2009 Aug;94(8):2686-91. doi: 10.1210/jc.2008-2788. Epub 2009 Jun 2. J Clin Endocrinol Metab. 2009. PMID: 19491227
Genetics of septo-optic dysplasia.
Kelberman D, Dattani MT. Kelberman D, et al. Pituitary. 2007;10(4):393-407. doi: 10.1007/s11102-007-0055-5. Pituitary. 2007. PMID: 17587179 Review.
Hypopituitarism oddities: congenital causes.
Kelberman D, Dattani MT. Kelberman D, et al. Horm Res. 2007;68 Suppl 5:138-44. doi: 10.1159/000110610. Epub 2007 Dec 10. Horm Res. 2007. PMID: 18174732 Review.
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT, Martinez-Barbera JP. Sajedi E, et al. Among authors: kelberman d. Dis Model Mech. 2008 Nov-Dec;1(4-5):241-54. doi: 10.1242/dmm.000711. Epub 2008 Nov 6. Dis Model Mech. 2008. PMID: 19093031 Free PMC article.
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT. Alatzoglou KS, et al. Among authors: kelberman d. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567534
45 results