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Volumn 14, Issue 9, 2006, Pages 986-990

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

Author keywords

[No Author keywords available]

Indexed keywords

NANCE HORAN SYNDROME PROTEIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

EID: 33747758331     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201671     Document Type: Article
Times cited : (31)

References (13)
  • 2
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    • X-linked cataract and Hutchinsonian teeth
    • Horan MB, Billson FA: X-linked cataract and Hutchinsonian teeth. Aust Paediatr J 1974; 10: 98-102.
    • (1974) Aust Paediatr J , vol.10 , pp. 98-102
    • Horan, M.B.1    Billson, F.A.2
  • 3
    • 0030758557 scopus 로고    scopus 로고
    • Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families
    • Toutain A, Ayrault AD, Moraine C: Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families. Am J Med Genet 1997; 22: 305-314.
    • (1997) Am J Med Genet , vol.22 , pp. 305-314
    • Toutain, A.1    Ayrault, A.D.2    Moraine, C.3
  • 4
    • 0018342152 scopus 로고
    • A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies
    • van Dorp DB, Delleman JW: A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. J Pediatr Ophthalmol Strabismus 1979; 16: 166-171.
    • (1979) J Pediatr Ophthalmol Strabismus , vol.16 , pp. 166-171
    • van Dorp, D.B.1    Delleman, J.W.2
  • 6
    • 0025244925 scopus 로고
    • Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome
    • Zhu D, Alcorn DM, Antonarakis SE et al: Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet 1990; 86: 54-58.
    • (1990) Hum Genet , vol.86 , pp. 54-58
    • Zhu, D.1    Alcorn, D.M.2    Antonarakis, S.E.3
  • 8
    • 18544377051 scopus 로고    scopus 로고
    • Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
    • Toutain A, Dessay B, Ronce N et al: Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. Eur J Hum Genet 2002; 10: 516-520.
    • (2002) Eur J Hum Genet , vol.10 , pp. 516-520
    • Toutain, A.1    Dessay, B.2    Ronce, N.3
  • 9
    • 6344252695 scopus 로고    scopus 로고
    • Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)
    • Brooks S, Ebenezer N, Poopalasundaram S et al: Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). Ophthal Genet 2004; 25: 121-131.
    • (2004) Ophthal Genet , vol.25 , pp. 121-131
    • Brooks, S.1    Ebenezer, N.2    Poopalasundaram, S.3
  • 10
    • 0242438883 scopus 로고    scopus 로고
    • Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
    • Burdon KP, McKay JD, Sale MM et al: Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 2003; 73: 1120-1130.
    • (2003) Am J Hum Genet , vol.73 , pp. 1120-1130
    • Burdon, K.P.1    McKay, J.D.2    Sale, M.M.3
  • 12
    • 11144279271 scopus 로고    scopus 로고
    • Truncating mutation in the NHS gene: Phenotypic heterogeneity of Nance-Horan syndrome in an Asian Indian family
    • Ramprasad VL, Thool A, Murugan S et al: Truncating mutation in the NHS gene: Phenotypic heterogeneity of Nance-Horan syndrome in an Asian Indian family. Invest Ophthalmol Vis Sci 2005; 46: 17-23.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 17-23
    • Ramprasad, V.L.1    Thool, A.2    Murugan, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.