Citations for
1HESX1, SOPT
Septo-optic dysplasia.
Webb EA, Dattani MT.
Eur J Hum Genet 18(4):393-7. Epub 2009 Jul 22. Review.PMID: 19623216 2010
2HESX1, SOPT
Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia.
Mueller OT, Coovadia A.
Hum Genet 127(4):478-9. No abstract available. 2010
3ACLS1, 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
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
Am J Med Genet A 146A(19):2501-11. 2008
4APIT, HESX1, SOPT
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, Vi�-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.
J Clin Endocrinol Metab 91(11):4528-36. Epub 2006 Aug 29. 2006
5ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI.
Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
6HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
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.
Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
Clin Endocrinol (Oxf) 62(2):163-8. 2005
7HESX1, SOPT
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 88(1):45-50. 2003
8HESX1, SOPT
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
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.
Hum Mol Genet 10(1):39-45. 2001
9HESX1, SOPT
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 88(433):49-54. Review. 1999
10HESX1, SOPT
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
Dattani MT, et al.
Nat Genet 19 : 125-133. 1998