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HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC. Dattani MT, et al. Acta Paediatr Suppl. 1999 Dec;88(433):49-54. doi: 10.1111/j.1651-2227.1999.tb14403.x. Acta Paediatr Suppl. 1999. PMID: 10626545 Review.
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Woods KS, et al. Among authors: dattani mt. Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800844 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.
249 results