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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
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
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
The role of SOX proteins in normal pituitary development.
Alatzoglou KS, Kelberman D, Dattani MT. Alatzoglou KS, et al. Among authors: kelberman d. J Endocrinol. 2009 Mar;200(3):245-58. doi: 10.1677/JOE-08-0447. Epub 2008 Dec 12. J Endocrinol. 2009. PMID: 19074474 Review.
The role of SOX2 in hypogonadotropic hypogonadism.
Tziaferi V, Kelberman D, Dattani MT. Tziaferi V, et al. Among authors: kelberman d. Sex Dev. 2008;2(4-5):194-9. doi: 10.1159/000152035. Epub 2008 Nov 5. Sex Dev. 2008. PMID: 18987493 Review.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: kelberman d. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
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.
45 results