Molecular evidence that fragile X syndrome occurs in the South African black population.
作者信息
Goldman A, Jenkins T, Krause A
出版信息
J Med Genet. 1998 Oct;35(10):878. doi: 10.1136/jmg.35.10.878.
Abstract
摘要
相似文献
1
Molecular evidence that fragile X syndrome occurs in the South African black population.南非黑人人群中存在脆性X综合征的分子证据。
J Med Genet. 1998 Oct;35(10):878. doi: 10.1136/jmg.35.10.878.
2
Fragile X syndrome occurs in the South African black population.脆性X综合征在南非黑人人群中出现。
S Afr Med J. 1997 Apr;87(4):418-20.
3
Fragile X syndrome: linkage analysis in black and white populations.脆性X综合征：黑人和白人种群的连锁分析
Am J Med Genet. 1988 May-Jun;30(1-2):531-42. doi: 10.1002/ajmg.1320300155.
4
Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies.法属西印度群岛瓜德罗普岛（加勒比海岛）智障儿童中脆性X综合征和FRAXE的患病率。
J Intellect Disabil Res. 1998 Feb;42 ( Pt 1):81-9. doi: 10.1046/j.1365-2788.1998.00064.x.
5
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.非裔美国人中脆性X综合征CGG重复序列及短串联重复序列和单核苷酸多态性单倍型的调查。
Am J Hum Genet. 2000 Feb;66(2):480-93. doi: 10.1086/302762.
6
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.非裔美国人中脆性X综合征CGG重复序列结构：鉴定导致重复序列不稳定的新因素。
Hum Mol Genet. 2000 Jul 22;9(12):1759-69. doi: 10.1093/hmg/9.12.1759.
7
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.撒哈拉以南西非一大群人中脆性X综合征基因（FMR1）的遗传多样性。
Ann Hum Genet. 2010 Jul;74(4):316-25. doi: 10.1111/j.1469-1809.2010.00582.x.
8
Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals.日本智力发育迟缓个体中脆性X染色体细胞遗传学检测与FMR-1基因分子分析的比较。
Am J Med Genet. 1994 Jul 15;51(4):466-70. doi: 10.1002/ajmg.1320510434.
9
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
Am J Med Genet. 1996 Aug 9;64(2):428-33. doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F.
10
Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.南美人群中CGG重复序列及FRAXAC1/DXS548等位基因的分布情况。
Am J Med Genet. 2002 Aug 15;111(3):243-52. doi: 10.1002/ajmg.10572.
引用本文的文献
1
A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.泰国一家实验室30年的脆性X综合征分子诊断经验。
Int J Mol Sci. 2025 Aug 1;26(15):7418. doi: 10.3390/ijms26157418.
2
A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.脆性 X 综合征与脆性 X 前突变相关疾病在非洲的综合综述
Genes (Basel). 2024 May 25;15(6):683. doi: 10.3390/genes15060683.
3
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.刚果民主共和国金沙萨专业机构中脆性X检查表和CGG分布的实用性。
J Community Genet. 2019 Jan;10(1):153-159. doi: 10.1007/s12687-018-0374-4. Epub 2018 Jul 4.
4
Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.脆性X综合征：世界人群中FMR1基因CGG重复序列的分布情况
Ann Hum Genet. 2012 Mar;76(2):178-91. doi: 10.1111/j.1469-1809.2011.00694.x. Epub 2011 Dec 21.
5
Fragile X syndrome in Korea: a case series and a review of the literature.韩国的脆性X综合征：病例系列及文献综述
J Korean Med Sci. 2008 Jun;23(3):470-6. doi: 10.3346/jkms.2008.23.3.470.
6
FMR1 and the fragile X syndrome: human genome epidemiology review.FMR1与脆性X综合征：人类基因组流行病学综述
Genet Med. 2001 Sep-Oct;3(5):359-71. doi: 10.1097/00125817-200109000-00006.
本文引用的文献
1
Fragile X syndrome occurs in the South African black population.脆性X综合征在南非黑人人群中出现。
S Afr Med J. 1997 Apr;87(4):418-20.
2
Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.
Am J Med Genet. 1996 Jul 12;64(1):184-6. doi: 10.1002/(SICI)1096-8628(19960712)64:1<184::AID-AJMG32>3.0.CO;2-H.
3
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.对236名智力迟钝受试者进行脆性X综合征的DNA诊断及FMR-1基因突变逆转的证据。
Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437.
4
Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals.日本智力发育迟缓个体中脆性X染色体细胞遗传学检测与FMR-1基因分子分析的比较。
Am J Med Genet. 1994 Jul 15;51(4):466-70. doi: 10.1002/ajmg.1320510434.
5
6
A marker X chromosome associated with nonspecific male mental retardation. The first South African cases.与非特异性男性智力迟钝相关的一条标记X染色体。首例南非病例。
S Afr Med J. 1981 Nov 21;60(21):807-11.
7
The Martin-Bell syndrome in South Africa.南非的马丁 - 贝尔综合征。
Am J Med Genet. 1986 Jan-Feb;23(1-2):597-610. doi: 10.1002/ajmg.1320230154.
8
Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.脆性X综合征：南卡罗来纳州黑人和白人人群中的发病率、临床及细胞遗传学发现
Am J Med Genet. 1988 May-Jun;30(1-2):641-54. doi: 10.1002/ajmg.1320300165.
Zotero 插件