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The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT. Gregory LC, et al. Among authors: dattani mt. Eur J Endocrinol. 2021 May 25;185(1):121-135. doi: 10.1530/EJE-20-1453. Eur J Endocrinol. 2021. PMID: 33950863 Free PMC article.
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT. Turton JP, et al. Among authors: dattani mt. J Clin Endocrinol Metab. 2005 Aug;90(8):4762-70. doi: 10.1210/jc.2005-0570. Epub 2005 May 31. J Clin Endocrinol Metab. 2005. PMID: 15928241
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT. Turton JP, et al. Among authors: dattani mt. Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8. doi: 10.1111/j.1365-2265.2005.02291.x. Clin Endocrinol (Oxf). 2005. PMID: 15963055
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Kelberman D, et al. Among authors: dattani mt. J Clin Invest. 2006 Sep;116(9):2442-55. doi: 10.1172/JCI28658. Epub 2006 Aug 24. J Clin Invest. 2006. PMID: 16932809 Free PMC article.
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: dattani mt. 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
246 results