Giuseppe Chiarella,C Petrolo,E Cassandro
Giuseppe Chiarella
Our understanding of the genetic basis of Ménière's disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain role for genetic factors in the develo...
Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes [0.03%]
基于基因组的工具在2型糖尿病风险评估、管理和预防中的作用
Katherine A Johansen Taber,Barry D Dickinson
Katherine A Johansen Taber
Type 2 diabetes (T2D) is a common and serious disorder and is a significant risk factor for the development of cardiovascular disease, neuropathy, nephropathy, retinopathy, periodontal disease, and foot ulcers and amputations. The burden of...
Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study [0.03%]
泰国β-地贫患儿的β-珠蛋白基因突变分子分析：单中心研究结果
Boonchai Boonyawat,Chalinee Monsereenusorn,Chanchai Traivaree
Boonchai Boonyawat
Background: Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta...
Virginia Arechavala-Gomeza,Bernard Khoo,Annemieke Aartsma-Rus
Virginia Arechavala-Gomeza
Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and ...
Thejaswini Venkatesh,Padmanaban S Suresh,Rie Tsutsumi
Thejaswini Venkatesh
Infertility is a disease of the reproductive system characterized by inability to achieve pregnancy after 12 or more months of regular unprotected sexual intercourse. A variety of factors, including ovulation defects, spermatogenic failure,...
The genetics of Leigh syndrome and its implications for clinical practice and risk management [0.03%]
莱igh综合征的遗传学及其对临床实践和风险管理的影响
Ilene S Ruhoy,Russell P Saneto
Ilene S Ruhoy
Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to t...
Cian M McCrudden,Helen O McCarthy
Cian M McCrudden
Breast cancer is characterized by a series of genetic mutations and is therefore ideally placed for gene therapy intervention. The aim of gene therapy is to deliver a nucleic acid-based drug to either correct or destroy the cells harboring ...
Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy [0.03%]
肥厚型心肌病的遗传学：分子诊断与治疗的进步和陷阱
Catarina Roma-Rodrigues,Alexandra R Fernandes
Catarina Roma-Rodrigues
Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle that occurs mainly due to mutations (>1,400 variants) in genes encoding for the cardiac sarcomere. HCM, the most common familial form of cardiomyopathy, affecting ...
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome) [0.03%]
肿瘤错配修复缺陷病因不明的结直肠癌和子宫内膜癌患者的临床问题（疑似林奇综合征）
Daniel D Buchanan,Christophe Rosty,Mark Clendenning et al.
Daniel D Buchanan et al.
Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation car...
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome [0.03%]
Kallmann综合征KAL1基因新错义突变(p.Trp204*)
Antonette Souto El Husny,Milene Raiol-Moraes,Milena Coelho Fernandes-Caldato et al.
Antonette Souto El Husny et al.
Objective: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. Setting: Endocrinology Clinic of the João de B...