Multiplex pyrosequencing assay using AdvISER-MH-PYRO algorithm: a case for rapid and cost-effective genotyping analysis of prostate cancer risk-associated SNPs [0.03%]
基于AdvISER-MH-PYRO算法的多重焦磷酸测序分型技术在前列腺癌风险基因多态性中的应用研究
Jérôme Ambroise,Valentina Butoescu,Annie Robert et al.
Jérôme Ambroise et al.
Background: Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs...
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features [0.03%]
巴基斯坦三个大型犹太人科亨综合征家系中的新型VPS13B突变提示巴尔赫 variants伴有自闭症特征
Muhammad Arshad Rafiq,Claire S Leblond,Muhammad Arif Nadeem Saqib et al.
Muhammad Arshad Rafiq et al.
Background: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disab...
Case Reports
BMC medical genetics. 2015 Jun 25:16:41. DOI:10.1186/s12881-015-0183-0 2015
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function [0.03%]
病例报告：与角膜平坦症相关的新KERA基因突变及其对蛋白功能的预测作用
Laura Roos,Birgitte Bertelsen,Pernille Harris et al.
Laura Roos et al.
Background: Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus. The recessive form, CNA2, is...
Case Reports
BMC medical genetics. 2015 Jun 23:16:40. DOI:10.1186/s12881-015-0179-9 2015
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated [0.03%]
当PKD1和TSC2发生突变时对mTOR抑制产生反应的思考
Cristina Cabrera-López,Gemma Bullich,Teresa Martí et al.
Cristina Cabrera-López et al.
Background: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and dele...
Case Reports
BMC medical genetics. 2015 Jun 17:16:39. DOI:10.1186/s12881-015-0185-y 2015
Gender difference in adiponectin associated with cardiovascular mortality [0.03%]
与心血管死亡相关的性别差异与脂联素有关
Urban Alehagen,Emina Vorkapic,Liza Ljungberg et al.
Urban Alehagen et al.
Background: It is important to identify cardiovascular diseases in patients at high risk. To include genetics into routine cardiological patients has therefore been discussed recently. We wanted to evaluate the associatio...
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report [0.03%]
导致远端肾小管酸中毒的新发2p13.3基因组缺失揭示VAX2在视网膜正常功能中的作用：病例报告
Elizabeth E Norgett,Anthony Yii,Katherine G Blake-Palmer et al.
Elizabeth E Norgett et al.
Background: Distal Renal Tubular Acidosis is a disorder of acid-base regulation caused by functional failure of α-intercalated cells in the distal nephron. The recessive form of the disease (which is usually associated w...
Case Reports
BMC medical genetics. 2015 Jun 13:16:38. DOI:10.1186/s12881-015-0182-1 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia [0.03%]
110名阿尔及利亚常染色体隐性共济失调患者的分子和临床研究
Wahiba Hamza,Lamia Ali Pacha,Tarik Hamadouche et al.
Wahiba Hamza et al.
Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 diffe...
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report [0.03%]
AMN的新杂合突变导致两姐妹患Imerslund-Gräsbeck综合征的病例报告
Emma Montgomery,John A Sayer,Laura A Baines et al.
Emma Montgomery et al.
Background: Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to ...
Case Reports
BMC medical genetics. 2015 Jun 4:16:35. DOI:10.1186/s12881-015-0181-2 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations [0.03%]
评估五种独立或组合使用的计算预测工具及两种元服务器对长QT综合症基因突变分类的预测准确性
Ivone U S Leong,Alexander Stuckey,Daniel Lai et al.
Ivone U S Leong et al.
Background: Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity...
Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India [0.03%]
印度角膜营养不良家系中VSX1基因的两种新的错义突变：临床和基因分析
Rohit Shetty,Rudy M M A Nuijts,Soumya Ganesh Nanaiah et al.
Rohit Shetty et al.
Background: Visual system homeobox gene (VSX1) plays a major role in the early development of craniofacial and ocular tissues including cone opsin gene in the human retina. To date, few disease-causing mutations of VSX1 h...