1 | HESX1, SOPT
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| Septo-optic dysplasia.
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| Webb EA, Dattani MT.
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| Eur J Hum Genet 18(4):393-7. Epub 2009 Jul 22. Review.PMID: 19623216 2010
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2 | HESX1, SOPT
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| Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia.
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| Mueller OT, Coovadia A.
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| Hum Genet 127(4):478-9. No abstract available.
2010
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3 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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4 | APIT, HESX1, SOPT
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| Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
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| Sobrier ML, Maghnie M, Vi�-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.
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| J Clin Endocrinol Metab 91(11):4528-36. Epub 2006 Aug 29. 2006
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5 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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6 | HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
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| Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
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| Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
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| Clin Endocrinol (Oxf) 62(2):163-8. 2005
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7 | HESX1, SOPT
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| Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
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| Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K.
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| J Clin Endocrinol Metab 88(1):45-50. 2003
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8 | HESX1, SOPT
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| Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
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| Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS.
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| Hum Mol Genet 10(1):39-45. 2001
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9 | HESX1, SOPT
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| HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.
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| Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC.
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| Acta Paediatr Suppl 88(433):49-54. Review. 1999
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10 | HESX1, SOPT
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| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
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| Dattani MT, et al.
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| Nat Genet 19 : 125-133. 1998
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