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Volumn 34, Issue 2, 1997, Pages 161-163

Functional Xp disomy and de novo t(X; 13)(q10;q10) in a girl with hypomelanosis of Ito

Author keywords

Autosome translocation; Functional Xp disomy; Hypomelanosis of Ito; X

Indexed keywords

BROXURIDINE;

EID: 0031040354     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.2.161     Document Type: Article
Times cited : (11)

References (15)
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    • Ito M. Studies on melanin. XI. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku J Exp Med 1952;55(suppl):57-9.
    • (1952) Tohoku J Exp Med , vol.55 , Issue.SUPPL. , pp. 57-59
    • Ito, M.1
  • 2
    • 0015605643 scopus 로고
    • Hypomelanosis of Ito ("incontinentia pigmenti achromians"): Report of three cases and review of the literature
    • Jelinek JE, Bart RS, Schiff GM. Hypomelanosis of Ito ("incontinentia pigmenti achromians"): report of three cases and review of the literature. Arch Dermatol 1973;107: 596-601.
    • (1973) Arch Dermatol , vol.107 , pp. 596-601
    • Jelinek, J.E.1    Bart, R.S.2    Schiff, G.M.3
  • 3
    • 0024394687 scopus 로고
    • Hypomelanosis of Ito: Spectrum of the disease
    • Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of the disease. J Pediatr 1989;115:75-80.
    • (1989) J Pediatr , vol.115 , pp. 75-80
    • Glover, M.T.1    Brett, E.M.2    Atherton, D.J.3
  • 5
    • 0025278925 scopus 로고
    • Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito
    • Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr 1990;116:581-6.
    • (1990) J Pediatr , vol.116 , pp. 581-586
    • Sybert, V.P.1    Pagon, R.A.2    Donlan, M.3    Bradley, C.M.4
  • 7
    • 0025021036 scopus 로고
    • Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism
    • Flannery DB. Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. Am J Med Genet 1990;35:18-21.
    • (1990) Am J Med Genet , vol.35 , pp. 18-21
    • Flannery, D.B.1
  • 8
    • 0022382093 scopus 로고
    • Two cases of X/autosome translocation in females with incontinentia pigmenti
    • Hodgson SV, Neville B, Jones RWA, Fear C, Bobrow M. Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet 1985;71:231-4.
    • (1985) Hum Genet , vol.71 , pp. 231-234
    • Hodgson, S.V.1    Neville, B.2    Jones, R.W.A.3    Fear, C.4    Bobrow, M.5
  • 9
    • 0021826455 scopus 로고
    • Translocation (X;9) (p11;q34) in a girl with incontinentia pigmenti (IP): Implications for the regional assignment of the IP locus to Xp11?
    • Gilgenkrantz S, Tridon P, Pinel-Briquel N, Beurey J, Weber M. Translocation (X;9) (p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Ann Genet (Park) 1985;28: 90-2.
    • (1985) Ann Genet (Park) , vol.28 , pp. 90-92
    • Gilgenkrantz, S.1    Tridon, P.2    Pinel-Briquel, N.3    Beurey, J.4    Weber, M.5
  • 13
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    • Incontinentia pigmenti achromians (hypomelanosis of Ito, MIM 146150): Further evidence of localization at Xp11
    • Koiffmann CP, de Souza DH, Diament A, et al. Incontinentia pigmenti achromians (hypomelanosis of Ito, MIM 146150): further evidence of localization at Xp11. Am J Med Genet 1993;46:529-33.
    • (1993) Am J Med Genet , vol.46 , pp. 529-533
    • Koiffmann, C.P.1    De Souza, D.H.2    Diament, A.3
  • 14
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    • X-inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp
    • Hatchwell E, Robinson D, Crolla JA, Cockwell AE. X-inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. J Med Genet 1996;33:216-20.
    • (1996) J Med Genet , vol.33 , pp. 216-220
    • Hatchwell, E.1    Robinson, D.2    Crolla, J.A.3    Cockwell, A.E.4
  • 15


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.