Frequency of thrombophilia associated genes variants: population-based study [0.03%]
与血栓形成有关的基因变异的频率：人群为基础的研究
Natalia Wawrusiewicz-Kurylonek,Adam Jacek Krętowski,Renata Posmyk
Natalia Wawrusiewicz-Kurylonek
Background: Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may le...
The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study [0.03%]
IL-6 rs12700386多态性与汉族人膝骨关节炎发病风险增加有关：一项病例对照研究
Hui Yang,Xindie Zhou,Dongmei Xu et al.
Hui Yang et al.
Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han populati...
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report [0.03%]
BMPR1A基因新生种系错义变异家族性幼年息肉症的病例报道
Qing Liu,Mengling Liu,Tianshu Liu et al.
Qing Liu et al.
Background: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of ...
Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia [0.03%]
精神分裂症患者外周血中DISC1基因的异常表达
Xiaoqian Fu,Guofu Zhang,Yansong Liu et al.
Xiaoqian Fu et al.
Background: Schizophrenia is a severe, heritable, and refractory psychiatric disorder. Several studies have shown that the disrupted in schizophrenia 1 (DISC1) gene is closely associated with schizophrenia by its role in ...
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report [0.03%]
Kabuki综合征患者出现低血糖和丹迪-沃克变异1例报告
Wei Guo,Yanguo Zhao,Shuwei Li et al.
Wei Guo et al.
Background: Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderat...
Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome [0.03%]
成人法洛四联症患者被诊断出不完全阿尔杰综合征并进行腹膜透析
Malgorzata Ponikowska,Agnieszka Pollak,Ewa Kotwica-Strzalek et al.
Malgorzata Ponikowska et al.
Background: Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent ...
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome [0.03%]
通过对患有Joubert综合症的两岁男孩进行全外显子测序发现PIBF1的两个新致病变异
Yue Shen,Hao Wang,Zhimin Liu et al.
Yue Shen et al.
Background: Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes...
Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report [0.03%]
两位中国Von Hippel-Lindau疾病患者家族出现与中枢神经系统血管母细胞瘤相关的VHL基因内含子突变：病例报道
Zhen Liu,Jingcheng Zhou,Liang Li et al.
Zhen Liu et al.
Background: Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations...
Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report [0.03%]
肢拱状短肢 dwarfism 患儿的14年随访强调需要多学科治疗：病例报告
Katina Kartalias,Austin P Gillies,Maria T Peña et al.
Katina Kartalias et al.
Background: Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-sha...
Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report [0.03%]
一名非梗阻性肥厚型心肌病和肌病患者中发现的FHL1突变新类型-病例报告
Adrian Giucă,Cristina Mitu,Bogdan Ovidiu Popescu et al.
Adrian Giucă et al.
Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in...