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Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?弗雷泽综合征和迪尼-德拉斯综合征：不同的疾病还是谱系的一部分？
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Diffuse mesangial sclerosis - Report of two cases.弥漫性系膜硬化——两例报告
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Case report: Denys- Drash syndrome.病例报告：迪尼-德拉斯综合征。
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本文引用的文献

1
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.单卵双胞胎中与单纯性腺发育不全相关的性腺母细胞瘤
J Pediatr. 1964 May;64:740-5. doi: 10.1016/s0022-3476(64)80622-3.
2
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.与WT1错义突变相关的早发性肾病综合征的谱系
Kidney Int. 1998 Jun;53(6):1594-600. doi: 10.1046/j.1523-1755.1998.00948.x.
3
Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.肾母细胞瘤1和Dax-1在性别特异性基因表达中调节孤儿核受体SF-1。
Cell. 1998 May 1;93(3):445-54. doi: 10.1016/s0092-8674(00)81172-1.
4
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.孤立性弥漫性系膜硬化患者中胚系WT1突变的鉴定及利用计算机化突变数据库分析基因型/表型相关性
Am J Hum Genet. 1998 Apr;62(4):824-33. doi: 10.1086/301806.
5
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.弗雷泽综合征是由WT1基因的异常可变剪接引起的，导致WT1 +/-KTS剪接异构体的比例发生改变。
Hum Mol Genet. 1998 Apr;7(4):709-14. doi: 10.1093/hmg/7.4.709.
6
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?影响WT1基因第9外显子剪接的内含子突变会导致弗雷泽综合征吗？
J Med Genet. 1998 Jan;35(1):45-8. doi: 10.1136/jmg.35.1.45.
7
Software and database for the analysis of mutations in the human WT1 gene.用于分析人类WT1基因突变的软件和数据库。
Nucleic Acids Res. 1998 Jan 1;26(1):271-4. doi: 10.1093/nar/26.1.271.
8
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.WT1基因的供体剪接位点突变是弗雷泽综合征的病因。
Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467.
9
A clinical overview of WT1 gene mutations.WT1基因突变的临床概述。
Hum Mutat. 1997;9(3):209-25. doi: 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2.
10
WT1 expression alters tumorigenicity of the G401 kidney-derived cell line.WT1表达改变了源自G401肾细胞系的致瘤性。
Cell Growth Differ. 1995 Dec;6(12):1609-17.

Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?

作者信息

Koziell A, Grundy R

机构信息

Department of Molecular Medicine, Institute of Child Health, 30, Guilford Street, London WC1N, UK.

出版信息

Arch Dis Child. 1999 Oct;81(4):365-9. doi: 10.1136/adc.81.4.365.

DOI:10.1136/adc.81.4.365
PMID:10490448
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1718089/
Abstract
摘要