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Volumn 152, Issue 1, 2005, Pages 191-193

X-linked recessive ichthyosis in a girl: Strategy for identifying the causal mechanism [13]

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE;

EID: 19944432250     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06367.x     Document Type: Letter
Times cited : (13)

References (10)
  • 2
    • 84919585371 scopus 로고
    • X-linked ichthyosis due to steroid-sulphatase deficiency
    • Shapiro LJ, Weiss R, Webster D et al. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978; i:70-2.
    • (1978) Lancet
    • Shapiro, L.J.1    Weiss, R.2    Webster, D.3
  • 3
    • 0035425950 scopus 로고    scopus 로고
    • Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis
    • Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL et al. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. Am J Med Genet 2001; 102:146-8.
    • (2001) Am J Med Genet , vol.102 , pp. 146-148
    • Valdes-Flores, M.1    Kofman-Alfaro, S.H.2    Jimenez-Vaca, A.L.3
  • 4
    • 0015232465 scopus 로고
    • Sex-linked ichthyosis in X0 gonadal dysgenesis
    • Solomon IL, Schoen EJ. Sex-linked ichthyosis in X0 gonadal dysgenesis. Lancet 1971; 1:1304-5.
    • (1971) Lancet , vol.1 , pp. 1304-1305
    • Solomon, I.L.1    Schoen, E.J.2
  • 5
    • 0019787704 scopus 로고
    • X-linked recessive ichthyosis in three sisters: Evidence for homozygosity
    • Merovah B, Frenk E, Müller CR et al. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol 1981; 105:711-17.
    • (1981) Br J Dermatol , vol.105 , pp. 711-717
    • Merovah, B.1    Frenk, E.2    Müller, C.R.3
  • 6
    • 0025329757 scopus 로고
    • Skewed inactivation in a female MZ twin results in Duchenne muscular dystrophy
    • Richards CS, Watkins SC, Hoffman EP et al. Skewed inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990; 46:672-81.
    • (1990) Am J Hum Genet , vol.46 , pp. 672-681
    • Richards, C.S.1    Watkins, S.C.2    Hoffman, E.P.3
  • 7
    • 0032828545 scopus 로고    scopus 로고
    • Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome
    • Chuansumrit A, Sasanakul W, Goodeve A et al. Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome. Thromb Haemost 1999; 82:1379.
    • (1999) Thromb Haemost , vol.82 , pp. 1379
    • Chuansumrit, A.1    Sasanakul, W.2    Goodeve, A.3
  • 8
    • 0031036182 scopus 로고    scopus 로고
    • Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
    • Quan F, Janas J, Toth-Fejel S et al. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997; 60:160-5.
    • (1997) Am J Hum Genet , vol.60 , pp. 160-165
    • Quan, F.1    Janas, J.2    Toth-Fejel, S.3
  • 9
    • 0034098812 scopus 로고    scopus 로고
    • Mechanisms leading to uniparental disomy and their clinical consequences
    • Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000; 22:452-9.
    • (2000) Bioessays , vol.22 , pp. 452-459
    • Robinson, W.P.1
  • 10
    • 0034890364 scopus 로고    scopus 로고
    • Complex and segmental uniparental disomy (UFD): Review and lessons from rare chromosomal complements
    • Kotzot D. Complex and segmental uniparental disomy (UFD): review and lessons from rare chromosomal complements. J Med Genet 2001; 38:497-507.
    • (2001) J Med Genet , vol.38 , pp. 497-507
    • Kotzot, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.