Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss [0.03%]
遗传、听力特征和全身临床表型的比较：14个综合征性听力损失家系研究
Zhoushu Zheng,Lulu Yan,Lu Ding et al.
Zhoushu Zheng et al.
Introduction: Syndromic hearing loss (SHL) is characterized by distinctive clinical phenotypes as well as genetic and phenotypic heterogeneity. More than 400 species of SHL have been described, the majority of which are a...
Association of RIPK1 and RIPK2 Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Han Population [0.03%]
RIPK1和RIPK2基因多态性与中国汉族类风湿关节炎患者的相关性研究
Shuang Lv,Yiming Li,Bojian Sun et al.
Shuang Lv et al.
Objects: Rheumatoid arthritis (RA) is a systemic autoimmune disease with an obscure pathogenesis. This study aims to identify the susceptibility conferred by specific single nucleotide polymorphisms (SNPs), namely rs17548...
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study [0.03%]
沙特阿拉伯利雅得一个三级中心的近婚与单基因疾病发生率：一项为期两年的横断面研究
Lamia K Alshamlani,Dana S Alsulaim,Raghad S Alabbad et al.
Lamia K Alshamlani et al.
Background: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications for the prevale...
The Ser434Phe Androgen Receptor Gene Mutation Does Not Affect Fertility but is Associated with Increased Prolactin [0.03%]
Ser434Phe型雄激素受体基因突变不影响生育力但与催乳素升高有关
Nesreen A Saadeh,Marya Obeidat,Mohammad Shboul
Nesreen A Saadeh
Introduction: Prolactin is a hormone secreted by the anterior pituitary gland essential for lactation. Non-physiological hyperprolactinemia characterized by serum prolactin levels exceeding 20 ng/mL in men and 25 ng/mL in...
Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient [0.03%]
与苏丹女性患者裸淋巴细胞综合征II型相关的类Ⅱ转激活基因(CIITA)变异体
Omaima Abdel Majeed Mohamed Salih,Nahla Hashim Hassan Erwa,Abdelrahman Hamza Abdelmoneim et al.
Omaima Abdel Majeed Mohamed Salih et al.
Introduction: Inborn errors of immunity (IEI) are disorders that present a health issue, especially in developing countries where there is a high rate of consanguineous marriages and an increasing rate of diagnosis. One o...
Erratum: Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum] [0.03%]
面肩肱型肌营养不良症的临床及遗传学研究进展
[This corrects the article DOI: 10.2147/TACG.S363685.]. © 2024 Sánchez-Espino et al.
Published Erratum
The application of clinical genetics. 2024 Aug 12:17:131-132. DOI:10.2147/TACG.S487419 2024
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...