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4. Molecular genetics of septo-optic dysplasia. Dattani ML; Martinez-Barbera J; Thomas PQ; Brickman JM; Gupta R; Wales JK; Hindmarsh PC; Beddington RS; Robinson IC Horm Res; 2000; 53 Suppl 1():26-33. PubMed ID: 10895039 [TBL] [Abstract][Full Text] [Related]
5. 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 Acta Paediatr Suppl; 1999 Dec; 88(433):49-54. PubMed ID: 10626545 [TBL] [Abstract][Full Text] [Related]
6. Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. Cohen RN; Cohen LE; Botero D; Yu C; Sagar A; Jurkiewicz M; Radovick S J Clin Endocrinol Metab; 2003 Oct; 88(10):4832-9. PubMed ID: 14557462 [TBL] [Abstract][Full Text] [Related]
7. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Dattani MT; Martinez-Barbera JP; Thomas PQ; Brickman JM; Gupta R; Mårtensson IL; Toresson H; Fox M; Wales JK; Hindmarsh PC; Krauss S; Beddington RS; Robinson IC Nat Genet; 1998 Jun; 19(2):125-33. PubMed ID: 9620767 [TBL] [Abstract][Full Text] [Related]
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9. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. Carvalho LR; Woods KS; Mendonca BB; Marcal N; Zamparini AL; Stifani S; Brickman JM; Arnhold IJ; Dattani MT J Clin Invest; 2003 Oct; 112(8):1192-201. PubMed ID: 14561704 [TBL] [Abstract][Full Text] [Related]
10. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. Tajima T; Hattorri T; Nakajima T; Okuhara K; Sato K; Abe S; Nakae J; Fujieda K J Clin Endocrinol Metab; 2003 Jan; 88(1):45-50. PubMed ID: 12519827 [TBL] [Abstract][Full Text] [Related]
12. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. Sobrier ML; Maghnie M; Vié-Luton MP; Secco A; di Iorgi N; Lorini R; Amselem S J Clin Endocrinol Metab; 2006 Nov; 91(11):4528-36. PubMed ID: 16940453 [TBL] [Abstract][Full Text] [Related]
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14. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. Fang Q; Benedetti AF; Ma Q; Gregory L; Li JZ; Dattani M; Sadeghi-Nejad A; Arnhold IJ; Mendonca BB; Camper SA; Carvalho LR Clin Endocrinol (Oxf); 2016 Sep; 85(3):408-14. PubMed ID: 27000987 [TBL] [Abstract][Full Text] [Related]
15. 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 J Clin Endocrinol Metab; 2007 Feb; 92(2):691-7. PubMed ID: 17148560 [TBL] [Abstract][Full Text] [Related]
16. A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. Takagi M; Takahashi M; Ohtsu Y; Sato T; Narumi S; Arakawa H; Hasegawa T Endocr J; 2016 Apr; 63(4):405-10. PubMed ID: 26781211 [TBL] [Abstract][Full Text] [Related]
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19. The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain. de la Mata I; Garcia JL; González C; Menéndez M; Cañada J; Jiménez-Barbero J; Asensio JL Chembiochem; 2002 Aug; 3(8):726-40. PubMed ID: 12203971 [TBL] [Abstract][Full Text] [Related]
20. Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis. Dasen JS; Martinez Barbera JP; Herman TS; Connell SO; Olson L; Ju B; Tollkuhn J; Baek SH; Rose DW; Rosenfeld MG Genes Dev; 2001 Dec; 15(23):3193-207. PubMed ID: 11731482 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]