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...
Profile of BRAF V600E, BRAF K601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital [0.03%]
印度尼西亚国家级转诊医院乳头状甲状腺癌BRAF V600E、BRAF K601E、NRAS、HRAS和KRAS突变状态及临床病理特征分析
Agnes Stephanie Harahap,Imam Subekti,Sonar Soni Panigoro et al.
Agnes Stephanie Harahap et al.
Introduction: BRAFV600E and RAS mutations are the most common gene mutations in papillary thyroid carcinoma (PTC) that may be correlated with its biological behavior. There are still limited data about BRAFV600E and RAS m...
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing [0.03%]
prenatal exome sequencing的产前外显子组测序孕前和产后遗传咨询的挑战与实用解决方案
Karin E M Diderich,Jasmijn E Klapwijk,Vyne van der Schoot et al.
Karin E M Diderich et al.
The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage c...
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report [0.03%]
年轻乳腺癌患者新的BRCA1基因脱 novo突变一例报告
Amina Scherz,Susanna Stoll,Benno Rothlisberger et al.
Amina Scherz et al.
Background: BRCA1 and BRCA2 genes represent the most investigated breast and ovarian cancer predisposition genes. Ten cases of pathogenic de novo BRCA1 variations and six cases of pathogenic de novo BRCA2 variation have b...
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [0.03%]
Sturge-Weber 综合征：病理生理、遗传学、临床表现和当前治疗的综述
Luis Fernando Sánchez-Espino,Marta Ivars,Javier Antoñanzas et al.
Luis Fernando Sánchez-Espino et al.
Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis an...
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas [0.03%]
哥伦比亚MUTYH基因 germline突变患者非结直肠癌的发病特征研究
Lisa Ximena Rodriguez-Rojas,Estephania Candelo,Harry Pachajoa et al.
Lisa Ximena Rodriguez-Rojas et al.
Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of t...
Van K Ma,Rong Mao,Jessica N Toth et al.
Van K Ma et al.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is delet...