Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report [0.03%]
新发的2p15微缺失综合征罕见病例报道：含有XPO1和USP34基因的缺失导致患儿多种表型异常
Gabriela Ręka,Katarzyna Wojciechowska,Monika Lejman
Gabriela Ręka
Introduction: 2p15p16.1 microdeletion syndrome was described for the first time in 2007. The size of the microdeletion is variable and encompasses several genes, like XPO1, USP34, BCL11A, REL, PAPOLG, PEX13, COMMD1, B3GNT...
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied [0.03%]
一例MODY5型糖尿病伴HNF-1β基因突变并发17q12微缺失综合征的病例报告
Shuping Zhang,Yamei Ma,Xiu Zang et al.
Shuping Zhang et al.
Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant inherited disorder prevalent among adolescents. Typically, it manifests with hyperglycemia before the age of 25. MODY5 is attributed to a mutation in the Hepatocyte Nuclea...
Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians [0.03%]
面部照片在泰国人群中对22q11.2缺失和威廉斯综合征的临时诊断中的准确性：与临床医生对比分析
Nop Khongthon,Midi Theeraviwatwong,Khunton Wichajarn et al.
Nop Khongthon et al.
Introduction: There are more than 6000 genetic syndromes, therefore the recognition of facial patterns may present a challenge for clinicians. The 22q11.2 deletion syndrome (22q11.2 DS) and Williams syndrome (WS) are two ...
The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine [0.03%]
泰国人口中CYP2C19多态性的多样性：精准医学的启示
Vorthunju Nakhonsri,Shobana John,Hathaichanok Panumasmontol et al.
Vorthunju Nakhonsri et al.
Introduction: CYP2C19 plays a major role in the metabolism of various drugs. The most common genetic variants were the CYP2C19*2 and *3 alleles (rs4244285 and rs4986893, non-functional variants). In previous studies, we f...
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1 [0.03%]
在MTMR2基因中鉴定出一种新的纯合子突变可导致极罕见的遗传性Charcot-Marie-Tooth病4B1型
Nan Du,Xiaolei Wang,Zhaohui Wang et al.
Nan Du et al.
Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders involving peripheral nervous system. Charcot-Marie-Tooth disease 4B1 (CMT4B1) is a rare subtype of CMT. CMT4B1 is an axonal demyelinating...
Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues [0.03%]
产科稽留流产组织遗传学病因染色体微阵列分析的应用研究
Zhen Xu,Na Liu,Lu Gao et al.
Zhen Xu et al.
Background: The potential causes of miscarriage are very complex, including genetic, immune, infectious, and endocrine factors. 50%-60% of miscarriages are caused by chromosomal abnormalities. Chromosomal microarray analy...
Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report [0.03%]
光学基因组学映射识别出的一例新生儿四号染色体长臂与六号染色体长臂之间的新型不平衡易位导致喂养困难和低张力：病例报告
Ying Wang,Shaohua Bi,Xiaoqing Shi et al.
Ying Wang et al.
Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performe...
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer [0.03%]
BRCA1 3'UTR变异型乳腺癌易感性的功能分析
Diana Carolina Sierra-Díaz,Rodrigo Cabrera,Laura Alejandra Gonzalez-Vasquez et al.
Diana Carolina Sierra-Díaz et al.
Purpose: Breast Cancer (BC) is the main female cancer diagnosed worldwide, and it has been described that few genes, such as BRCA1, have a high penetrance for this type of cancer. In this manuscript, we were interested in...
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam [0.03%]
越南AR基因突变所致雄激素抵抗综合征的胚胎植入前遗传学诊断
Nguyen Thanh Tung,Trieu Tien Sang,Tran Van Khoa et al.
Nguyen Thanh Tung et al.
Background: Androgen resistance syndrome or androgen insensitivity syndrome (AIS - Androgen Insensitivity Syndrome, OMIM 300068) is an X-linked recessive genetic syndrome causing disorders of sexual development in males. ...
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population [0.03%]
免疫基因多态性与结核分枝杆菌易感性的关联：非洲人群的分析研究
Wycliff Wodelo,Eddie M Wampande,Alfred Andama et al.
Wycliff Wodelo et al.
Tuberculosis remains a global health concern, with substantial mortality rates worldwide. Genetic factors play a significant role in influencing susceptibility to tuberculosis. This review examines the current progress in studying polymorph...