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...
Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients [0.03%]
少精子症患者中Y染色体微缺失的筛查及显微取精治疗无精子症患者获得精子的成功率
Son The Trinh,Nhat Ngoc Nguyen,Hien Thi Thu Le et al.
Son The Trinh et al.
Background: The Y chromosome has a specific region, namely the Azoospermia Factor (AZF) because azoospermia is typically reported in the microdeletion of the AZF region. This study aims to assess the characteristics of AZ...
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis [0.03%]
家族性腺瘤性息肉病的诊断和治疗最新观点
Filippos Kyriakidis,Dionysios Kogias,Theodora Maria Venou et al.
Filippos Kyriakidis et al.
Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve...
Evaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia [0.03%]
评估埃塞俄比亚亚的斯亚贝巴儿童急性淋巴细胞白血病中CNOT3、GRIA1、NFATC2和PNPLA3变异等位基因频率及其与L-天冬酰胺酶过敏反应关联的研究
Awol Mekonnen Ali,Haileyesus Adam,Daniel Hailu et al.
Awol Mekonnen Ali et al.
Introduction: L-asparaginase is a vital component for the treatment of childhood acute lymphoblastic leukemia (ALL); however, hypersensitivity reactions and hepatotoxicity hinder its anti-neoplastic efficacy. Previous rep...
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We? [0.03%]
视网膜疾病腺相关病毒(AAV)基因治疗进展如何？
Divya Ail,Hugo Malki,Emilia A Zin et al.
Divya Ail et al.
Owing to their small size and safety profiles, adeno-associated viruses (AAVs) have become the vector of choice for gene therapy applications in the retina. In addition to the naturally occurring AAVs, several engineered variants with enhan...