Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

Suppr

超能文献

作者信息

Jones C, Booth C, Rita D, Jazmines L, Brandt B, Newlan A, Horsthemke B

出版信息

Am J Hum Genet. 1997 Jun;60(6):1558-62. doi: 10.1016/S0002-9297(07)64254-2.

DOI:10.1016/S0002-9297(07)64254-2

PMID:9199583

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1716119/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b297/1716119/7c1171bf3185/ajhg00006-0302-a.jpg

相似文献

Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

Am J Hum Genet. 1997 Jun;60(6):1558-62. doi: 10.1016/S0002-9297(07)64254-2.

Translocation X;13 in a patient with retinoblastoma.一名视网膜母细胞瘤患者的X;13易位

J Med Genet. 1987 Jul;24(7):431-4. doi: 10.1136/jmg.24.7.431.

Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.与视网膜母细胞瘤相关的13qXp易位可能导致13号染色体部分失活。

Clin Genet. 1982 Jun;21(6):357-61. doi: 10.1111/j.1399-0004.1982.tb01387.x.

Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.一名患有色素失禁症和双侧视网膜母细胞瘤的女孩存在(X;13)(p11.21;q12.3)易位。

Ann Genet. 1985;28(4):219-23.

Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma.

Am J Med Genet A. 2003 Jul 1;120A(1):105-9. doi: 10.1002/ajmg.a.20116.

De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

Hum Genet. 1987 Sep;77(1):51-4. doi: 10.1007/BF00284713.

Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.

Am J Med Genet. 1992 Apr 1;42(6):771-6. doi: 10.1002/ajmg.1320420604.

Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma.

Cancer Genet Cytogenet. 1997 Jul 1;96(1):23-5. doi: 10.1016/s0165-4608(97)89572-6.

The genetics of retinoblastoma.视网膜母细胞瘤的遗传学

Ann Genet. 1994;37(4):172-8.

Further observations on a 13qXp translocation associated with retinoblastoma.关于与视网膜母细胞瘤相关的13qXp易位的进一步观察。

Am J Ophthalmol. 1980 May;89(5):621-7. doi: 10.1016/0002-9394(80)90276-7.

引用本文的文献

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.一位患有视网膜母细胞瘤和严重智力障碍的女性患者，携带 X;13 平衡易位但 RB1 基因无重排：一例病例报告。

BMC Med Genomics. 2019 Dec 5;12(1):182. doi: 10.1186/s12920-019-0640-2.

Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.一名患有艾卡迪综合征青少年的视网膜母细胞瘤晚期表现

Ocul Oncol Pathol. 2016 Apr;2(3):181-4. doi: 10.1159/000439595. Epub 2016 Feb 2.

New perspectives for the elucidation of genetic disorders.阐明遗传性疾病的新视角。

Am J Hum Genet. 2007 Aug;81(2):199-207. doi: 10.1086/520679. Epub 2007 Jun 29.

本文引用的文献

DNA methylation in early development.早期发育中的DNA甲基化。

Hum Mol Genet. 1995;4 Spec No:1751-5. doi: 10.1093/hmg/4.suppl_1.1751.

CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene.CpG 甲基化使人类视网膜母细胞瘤肿瘤抑制基因的启动子活性失活。

Oncogene. 1993 Apr;8(4):1063-7.

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.13号染色体长臂32区“关键区域”的初步定义：14例13q缺失病例报告及文献综述

Am J Med Genet. 1993 Jan 1;45(1):52-9. doi: 10.1002/ajmg.1320450115.

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.视网膜母细胞瘤中RB1等位基因高甲基化的频率及亲本来源

Hum Genet. 1994 Nov;94(5):491-6. doi: 10.1007/BF00211013.

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.遗传性视网膜母细胞瘤中具有低外显率的不同RB1基因突变。

Hum Genet. 1994 Oct;94(4):349-54. doi: 10.1007/BF00201591.

Further observations on a 13qXp translocation associated with retinoblastoma.关于与视网膜母细胞瘤相关的13qXp易位的进一步观察。

Am J Ophthalmol. 1980 May;89(5):621-7. doi: 10.1016/0002-9394(80)90276-7.

Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.与视网膜母细胞瘤相关的13qXp易位可能导致13号染色体部分失活。

Clin Genet. 1982 Jun;21(6):357-61. doi: 10.1111/j.1399-0004.1982.tb01387.x.

Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.与失活X染色体相连的人类常染色体位点失活的遗传学证据。

Am J Hum Genet. 1982 Sep;34(5):811-7.

A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q.13q间质缺失的视网膜母细胞瘤患者中面部的可识别模式。

Hum Genet. 1983;64(2):160-2. doi: 10.1007/BF00327116.

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.视网膜母细胞瘤中隐性等位基因通过染色体机制的表达。

Nature. 1983;305(5937):779-84. doi: 10.1038/305779a0.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验