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Volumn 114, Issue 1, 2006, Pages 83-88

A highly complex rea(2;3;11) and aniridia by position effect

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; PAX5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR PAX5;

EID: 33744992240     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000091933     Document Type: Article
Times cited : (2)

References (20)
  • 2
    • 0031864888 scopus 로고    scopus 로고
    • De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: Report and review
    • Batanian JR, Eswara MS: De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: report and review. Am J Med Genet 78:44-51 (1998).
    • (1998) Am J Med Genet , vol.78 , pp. 44-51
    • Batanian, J.R.1    Eswara, M.S.2
  • 3
    • 27944474013 scopus 로고    scopus 로고
    • Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
    • Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T: Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet 118:267-275 (2005).
    • (2005) Hum Genet , vol.118 , pp. 267-275
    • Borg, K.1    Stankiewicz, P.2    Bocian, E.3    Kruczek, A.4    Obersztyn, E.5    Lupski, J.R.6    Mazurczak, T.7
  • 4
    • 0037262322 scopus 로고    scopus 로고
    • Missense mutations in the DNA-binding region and termination codon in PAX6
    • Chao LY, Mishra R, Strong LC, Saunders GF: Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat 21:138-145 (2003).
    • (2003) Hum Mutat , vol.21 , pp. 138-145
    • Chao, L.Y.1    Mishra, R.2    Strong, L.C.3    Saunders, G.F.4
  • 5
    • 0036844718 scopus 로고    scopus 로고
    • Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
    • Crolla JA, van Heyningen V: Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 71:1138-1149 (2002).
    • (2002) Am J Hum Genet , vol.71 , pp. 1138-1149
    • Crolla, J.A.1    Van Heyningen, V.2
  • 6
  • 9
    • 0027298980 scopus 로고
    • Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization
    • Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N: Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. Hum Genet 91:205-209 (1993).
    • (1993) Hum Genet , vol.91 , pp. 205-209
    • Fukushima, Y.1    Hoovers, J.2    Mannens, M.3    Wakui, K.4    Ohashi, H.5    Ohno, T.6    Ueoka, Y.7    Niikawa, N.8
  • 13
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan DA, van Heyningen V: Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76:8-32 (2005).
    • (2005) Am J Hum Genet , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    Van Heyningen, V.2
  • 16
    • 4344715840 scopus 로고    scopus 로고
    • De novo complex chromosome rearrangements (CCR) involving chromosome 1,5, and 6 resulting in microdeletion for 6q14 in a female carrier with a psychotic disorder
    • Lespinasse J, Bugge M, Réthoré MO, North MO, Ludsteen C, Kirchhoff M: De novo complex chromosome rearrangements (CCR) involving chromosome 1,5, and 6 resulting in microdeletion for 6q14 in a female carrier with a psychotic disorder. Am J Med Genet 128A:199-203 (2004).
    • (2004) Am J Med Genet , vol.128 A , pp. 199-203
    • Lespinasse, J.1    Bugge, M.2    Réthoré, M.O.3    North, M.O.4    Ludsteen, C.5    Kirchhoff, M.6
  • 17
    • 0034517427 scopus 로고    scopus 로고
    • FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13) (p13;q33) translocation detect a microdeletion involving the WAGR region
    • Llerena JC, Cabral de Almeida JC, Bastos E, Crolla JA: FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13) (p13;q33) translocation detect a microdeletion involving the WAGR region. Genet Mol Biol 23:535-539 (2000).
    • (2000) Genet Mol Biol , vol.23 , pp. 535-539
    • Llerena, J.C.1    Cabral De Almeida, J.C.2    Bastos, E.3    Crolla, J.A.4
  • 18
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • National Institutes of Health and Institute of Molecular Medicine Collaboration: A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89 (1996).
    • (1996) Nat Genet , vol.14 , pp. 86-89
  • 19
    • 0942298746 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints
    • Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. Am J Med Genet 124A:10-18 (2004).
    • (2004) Am J Med Genet , vol.124 A , pp. 10-18
    • Vermeulen, S.1    Menten, B.2    Van Roy, N.3    Van Limbergen, H.4    De Paepe, A.5    Mortier, G.6    Speleman, F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.