Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors [0.03%]
胃肠道间质瘤的诊断标准、具体突变和遗传易感性
Jean-Baptiste Bachet,Jean-François Emile
Jean-Baptiste Bachet
In 1998, gastrointestinal stromal tumor (GIST) emerged as a distinct oncogenetic entity and subsequently became a paradigm of targeted therapies in solid tumors. Diagnosis of GIST relies on both histology and immunohistochemistry. Ninety-fi...
Genetic contribution and associated pathophysiology in end-stage renal disease [0.03%]
遗传因素对终末期肾病的贡献及相关的病理生理学机制
Suraksha Agrawal,Ss Agarwal,Sita Naik
Suraksha Agrawal
End-stage renal disease (ESRD) or chronic kidney disease (CKD) is the terminal state of the kidney when its function has been permanently and irreversibly damaged. A wide variety of etiologies and pathological processes culminate in ESRD, a...
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations [0.03%]
家族性高胆固醇血症的遗传基础：遗传、连锁和突变
Isabel De Castro-Orós,Miguel Pocoví,Fernando Civeira
Isabel De Castro-Orós
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart d...
Genetic and molecular mechanisms in multiple myeloma: a route to better understand disease pathogenesis and heterogeneity [0.03%]
遗传和分子机制在多发性骨髓瘤中的作用：更好地了解疾病发病机理和异质性的途径
Marie-Christine Kyrtsonis,Vassiliki Bartzis,Xenophon Papanikolaou et al.
Marie-Christine Kyrtsonis et al.
Multiple myeloma (MM) is a heterogeneous plasma cell neoplasm presenting with a wide range of clinical manifestations. In spite of the availability of very performing treatment modalities, survival is highly varying, ranging from a few mont...
Gene polymorphisms in association with self-reported stroke in US adults [0.03%]
美国成年人中与自述卒中相关的基因多态性
Amy Z Fan,Jing Fang,Ajay Yesupriya et al.
Amy Z Fan et al.
Purpose: Epidemiologic studies suggest that several gene variants increase the risk of stroke, and population-based studies help provide further evidence. We identified polymorphisms associated with the prevalence of self...
Pilot study of an association between a common variant in the non-muscle myosin heavy chain 9 (MYH9) gene and type 2 diabetic nephropathy in a Taiwanese population [0.03%]
非肌球蛋白重链9基因的多态性与台湾人第2型糖尿病肾脏病变之关联性研究
Chang-Hsun Hsieh,Yi-Jen Hung,Dee Pei et al.
Chang-Hsun Hsieh et al.
Nowadays diabetic nephropathy (DN) is the most common cause of end-stage renal disease (ESRD). Recent studies have demonstrated that the myosin, heavy chain 9, non-muscle (MYH9) gene is associated with ESRD in African Americans. In this stu...
Amniotic band syndrome and/or limb body wall complex: split or lump [0.03%]
胎盘带综合征和/或体壁复合征：分立还是合为一体？
Ashutosh Halder
Ashutosh Halder
Six cases of amniotic band syndrome/limb body wall complex were studied in respect to clinicopathologic characteristics. The diagnosis was based on two out of three of the following manifestations: cranio facial clefts; limb body wall defec...
Inheritance of craniofacial features in Colombian families with class III malocclusion [0.03%]
哥伦比亚III类错牙合家系的颅面部特征遗传性研究
L Otero,L Quintero,D Champsaur et al.
L Otero et al.
Introduction: The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported. ...
The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder [0.03%]
注意缺陷多动障碍和自闭症谱系障碍的遗传重叠性
Arie J Stam,Patricia F Schothorst,Jacob As Vorstman et al.
Arie J Stam et al.
Autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are classified as distinct disorders within the DSM-IV-TR (1994). The manual excludes simultaneous use of both diagnoses in case of overlap on a symptomat...
Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry [0.03%]
BANK1 R61H变异体与欧美人和非洲人狼疮易感性的关联研究
Struan Fa Grant,Michelle Petri,Jonathan P Bradfield et al.
Struan Fa Grant et al.
Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease i...