Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations [0.03%]
家族性LCAT缺乏和低HDL-C水平：两种罕见的LCAT错义突变的计算机辅助特征分析
Sebastian Ciro Acosta,Lorena Díaz-Ordóñez,Juan David Gutierrez-Medina et al.
Sebastian Ciro Acosta et al.
Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While bot...
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function [0.03%]
因成人遗传失去蔗糖酶-异麦芽糖酶功能而造成的胃肠症状对格陵兰医疗保健的影响
Kristine Andersen,Torben Hansen,Marit Eika Jørgensen et al.
Kristine Andersen et al.
Background: Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant ...
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure [0.03%]
对于705个不明原因反复种植失败的夫妇而言，胚胎植入前非整倍体遗传学检测并不能提高累计活产率
Yang Liu,Xiangxin Lan,Juanjuan Lu et al.
Yang Liu et al.
Objective: We evaluate whether next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) improves the cumulative pregnancy outcomes of patients with unexplained recurrent implantation f...
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population [0.03%]
维生素D受体基因多态性与印尼人群的白癜风关联性研究
Retno Hesty Maharani,Hartati Purbo Dharmadji,Reti Hindritiani et al.
Retno Hesty Maharani et al.
Introduction: Vitiligo is an acquired depigmenting skin disorder due to the loss of melanocyte function in the epidermis and hair follicles. The pathogenesis of vitiligo is multifactorial, with genetics being a predisposi...
A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation [0.03%]
导致突发心脏猝死的新遗传综合症，伴随特征性的ST段压低和ankyrin-2突变
Hubertus von Korn,Cristina Basso,Kalliopi Pilichou et al.
Hubertus von Korn et al.
Introduction: Sudden cardiac death (SCD) is a serious threat. In individuals under the age of 35 years sudden arrhythmic death is the most frequent cause. In younger persons, genetically determined cardiac diseases (eg, c...
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations [0.03%]
血友病患者诊断工具的多中心研究：从床边到全面调查
Ampaiwan Chuansumrit,Rungrote Natesirinilkul,Nongnuch Sirachainan et al.
Ampaiwan Chuansumrit et al.
Background: Hemophilia cannot be diagnosed in most laboratories of economically less-developed countries leading to high mortality and morbidity rates. Ai...
Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics [0.03%]
瑞士一个中心11年的肿瘤遗传咨询门诊经验：患者的特征及检测的特征
Bastien Grandjean,Amina Scherz,Manuela Rabaglio
Bastien Grandjean
Introduction: Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, o...
Hanna J Tadros,Christina Y Miyake,Debra L Kearney et al.
Hanna J Tadros et al.
Arrhythmogenic cardiomyopathy (AC) is a disease that involves electromechanical uncoupling of cardiomyocytes. This leads to characteristic histologic changes that ultimately lead to the arrhythmogenic clinical features of the disease. Initi...
Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia [0.03%]
埃塞俄比亚东部个体的GSTM1和GSTT1基因拷贝数变异与肝硬化风险的关系
Abraham Nigussie Mekuria,Tamrayehu Seyoum,Dawit Hailu Alemayehu et al.
Abraham Nigussie Mekuria et al.
Background: Polymorphisms in glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) can cause an entire gene deletion. The current methodology can accurately identify GSTM1 and GSTT1 copy number variants (CNVs), which may sh...
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report [0.03%]
Coffin-Siris综合征患者的微小晶状体闭角型青光眼病例报告
Kulawan Rojananuangnit,Kitiwan Rojnueangnit
Kulawan Rojananuangnit
Background: Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by genetic testing can identify associated sy...