Clinical utility gene card for: Bardet-Biedl syndrome.
作者信息
Slavotinek Anne, Beales Philip
机构信息
Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
出版信息
Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.199. Epub 2010 Dec 8.
Abstract
摘要
相似文献
1
Clinical utility gene card for: Bardet-Biedl syndrome.巴德-比德尔综合征的临床实用基因卡片
Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.199. Epub 2010 Dec 8.
2
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet-Biedl syndrome in a Chinese family.
Congenit Anom (Kyoto). 2021 Jul;61(4):138-139. doi: 10.1111/cga.12413. Epub 2021 Feb 23.
3
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.Bardet-Biedl 综合征的复发风险：基因座异质性的影响。
Genet Med. 2010 Oct;12(10):623-7. doi: 10.1097/GIM.0b013e3181f07572.
4
Expanding the phenotype of Bardet-Biedl syndrome: Newly diagnosed sibling cases.
Pediatr Int. 2020 Jan;62(1):101-103. doi: 10.1111/ped.14066. Epub 2020 Jan 15.
5
[A rare ciliopathy: the Bardet-Biedl Syndrome].[一种罕见的纤毛病：巴德-比德尔综合征]
Z Gastroenterol. 2014 Dec;52(12):1382. doi: 10.1055/s-0034-1397364.
6
[Bardet - Biedl syndrome in the child. A study of 11 cases].[儿童巴德-比德尔综合征。11例病例研究]
Tunis Med. 2011 Jan;89(1):31-6.
7
Bardet-Biedl and Cohen syndromes: differential diagnostic criteria.巴德-比德尔综合征和科恩综合征：鉴别诊断标准。
J Med Genet. 2000 Dec;37(12):E46. doi: 10.1136/jmg.37.12.e46.
8
Bardet Biedl syndrome: A rare genetic disorder.巴德-比埃尔综合征：一种罕见的遗传性疾病。
J Pak Med Assoc. 2020 Sep;70(9):1651-1652. doi: 10.5455/JPMA.48903.
9
[Bardet-Biedl syndrome: diagnostic usefulness of exome sequencing].[巴德-比德尔综合征：外显子组测序的诊断效用]
An Pediatr (Barc). 2014 Mar;80(3):e100-1. doi: 10.1016/j.anpedi.2013.09.005. Epub 2013 Oct 26.
10
Choroidal neovascularization in Bardet-Biedl syndrome.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):52-4. doi: 10.3109/13816810.2011.603404.
引用本文的文献
1
How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?随机过程和遗传阈值效应如何解释不完全外显率并为因果疾病机制提供信息？
Philos Trans R Soc Lond B Biol Sci. 2024 Apr 22;379(1900):20230045. doi: 10.1098/rstb.2023.0045. Epub 2024 Mar 4.
2
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.两个同胞兄妹中 novel biallelic loss-of-function variants in CEP290 导致 Joubert 综合征。
Hum Genomics. 2020 Jun 29;14(1):26. doi: 10.1186/s40246-020-00274-4.
3
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.使用全外显子组测序鉴定两例纤毛病相关糖尿病及其突变分析。
Diabetes Metab J. 2015 Oct;39(5):439-43. doi: 10.4093/dmj.2015.39.5.439. Epub 2015 Oct 22.
4
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.伊朗巴德-比德尔综合征患者中BBS基因的突变谱：五个BBS基因的遗传特征及九个新突变的报告
J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.
本文引用的文献
1
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.巴德-比埃尔综合征：携带已证实的BBS1基因突变的兄弟中的非典型表型。
Ophthalmic Genet. 2008 Sep;29(3):128-32. doi: 10.1080/13816810802216464.
2
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.综合征性脑膨出基因的亚效突变与巴德-比德尔综合征相关。
Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9.
3
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.BBS1突变与其他BBS基因座等位基因的遗传相互作用可导致非孟德尔型巴德-比埃尔综合征。
Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3.
4
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.改善巴德-比德尔综合征诊断的新标准：一项人群调查结果
J Med Genet. 1999 Jun;36(6):437-46.
5
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.
Clin Genet. 1988 Feb;33(2):78-82. doi: 10.1111/j.1399-0004.1988.tb03414.x.
6
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.巴德-比德尔综合征（一种劳伦斯-穆恩-比德尔综合征）的主要表现。
N Engl J Med. 1989 Oct 12;321(15):1002-9. doi: 10.1056/NEJM198910123211503.
7
High incidence of Bardet Biedl syndrome among the Bedouin.
Clin Genet. 1989 Dec;36(6):463-4. doi: 10.1111/j.1399-0004.1989.tb03378.x.
Zotero 插件