Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience [0.03%]
特纳综合征中核型和诊断年龄与体征和共患病的关系：单中心研究体验
Beáta Vida,Olga Török,Enikő Felszeghy et al.
Beáta Vida et al.
Aim: Turner syndrome (TS) is one of the most common genetic diseases in females, with typical physical features and comorbidities. Karyotype-phenotype associations and clinical significance of childhood versus adolescent/...
Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports [0.03%]
α1抗胰蛋白酶缺乏的慢性阻塞性肺病和肺气肿患者的血管病理：病例报告
Matthew Gordon,Andrew J Gangemi,Eric L Sandwith et al.
Matthew Gordon et al.
Alpha 1 Antitrypsin Deficiency (AATD) is a genetic condition that results from mutations in the SERPINA1 gene, which can lead to deficient or dysfunctional Alpha 1 Antitrypsin (AAT) protein production. AATD is linked to chronic obstructive ...
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene [0.03%]
沙特阿拉伯首报由FMO3基因过早终止密码子突变所致三甲基胺尿症病例
Bandar Alghanem,Hassan S Alamri,Tlili Barhoumi et al.
Bandar Alghanem et al.
Background: Trimethylaminuria (TMAU) is a rare recessive genetic disorder with limited global prevalence. To date, there have been no official reports of TMAU cases documented in Saudi Arabia. ...
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing [0.03%]
利用下一代测序技术拓展雄激素不敏感综合征的分子图谱研究
Tadeusz Kałużewski,Iwona Pinkier,Urszula Wysocka et al.
Tadeusz Kałużewski et al.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (AR), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals wit...
Oliwia Rdzanek,Patrycja Najda,Karolina Parysek-Wójcik et al.
Oliwia Rdzanek et al.
Wilms' tumor (WT) is the most common renal neoplasm in children. Despite its rapid growth, it is often asymptomatic. It most commonly occurs between the ages of 3 and 5, more frequently in girls. Numerous studies report an association betwe...
Pathway of LCK Tyrosine Kinase and mTOR Signaling in Children with T-Cell Acute Lymphoblastic Leukemia [0.03%]
儿童T细胞急性淋巴细胞白血病LCK酪氨酸激酶和mTOR信号通路的研究
Agata Rocka,Maria Suchcicka,Aleksandra M Jankowska et al.
Agata Rocka et al.
The aim of this study is to analyze available research on targeting signaling pathways for the development of new drugs in patients with T-cell acute lymphoblastic leukemia (T-ALL). This analysis focuses specifically on the role of LCK tyro...
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...