Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population [0.03%]
骨桥蛋白基因多态性rs1126616 C>T和rs1126772 A>G与波兰人群的特应性皮炎有关
Beata Kaleta,Mieszko Lachota,Jacek Łukaszkiewicz et al.
Beata Kaleta et al.
Purpose: Atopic dermatitis (AD) is a chronic, relapsing inflammatory disease, caused by environmental and genetic factors, which lead to immunological abnormalities. Osteopontin (OPN), also named secreted phosphoprotein 1...
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report [0.03%]
Kabuki综合征的新型内含子KMT2D变异一例报告
Erica Aristizábal,Lorena Diaz-Ordóñez,Estephania Candelo et al.
Erica Aristizábal et al.
Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMI...
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy [0.03%]
杜氏肌营养不良症哥伦比亚患者的基因特征显示新的突变
Paula Triana-Fonseca,Juan Fernando Parada-Márquez,Claudia T Silva-Aldana et al.
Paula Triana-Fonseca et al.
Background: Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common human dystrophinopathies with recessive X-linked inheritance. Dystrophin gene deletions and duplications are the most common mutations, fo...
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study [0.03%]
MAP2K1基因致病变异导致III型心脏-面-皮肤综合症男孩的喉科学，听力学，牙齿和语言问题的病例研究
Bożena Kosztyła-Hojna,Jan Borys,Maciej Zdrojkowski et al.
Bożena Kosztyła-Hojna et al.
Cardio-facio-cutaneous syndrome 3 (CFC3) due to variants in MAP2K1 is a rare genetic disorder manifested mainly by short stature, facial dysmorphism, abnormalities of the cardiovascular system, skin changes, and intellectual disability. The...
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives [0.03%]
Wiskott-Aldrich综合征的自身免疫性：更新的观点
Murugan Sudhakar,Rashmi Rikhi,Sathish Kumar Loganathan et al.
Murugan Sudhakar et al.
Wiskott-Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Aut...
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease [0.03%]
赫姆奇约玛顿第二至第四型的临床基因检测及铁输出蛋白病遗传咨询适宜性探究
Devan S Kowdley,Kris V Kowdley
Devan S Kowdley
Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutat...
ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand [0.03%]
泰国儿童白血病中ITPA基因c.94C>A和NUDT15基因c.415C>T多态性与巯基嘌呤相关髓系毒性的关系研究
Boonchai Boonyawat,Chalinee Monsereenusorn,Apichat Photia et al.
Boonchai Boonyawat et al.
Background: Mercaptopurine is a key agent in childhood leukemia treatment. Genetic polymorphism in the genes involving thiopurine metabolisms is related to 6-MP related toxicity. ...
Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt [0.03%]
评估NLRP3（rs10754558）和PTPN22（1858C / T）（rs2476601）功能多态性在埃及银屑病易感性中的作用
Abeer ALrefai,Ashraf Dawood,Wafaa Shehata et al.
Abeer ALrefai et al.
Background: Psoriasis is a complex autoimmune multifactorial disease induced by interaction of environmental and genetic factors. This research aimed to clarify the association of NLRP3 (rs10754558) and PTPN22 (1858C/T) (...
Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature [0.03%]
多次自然流产患者的染色体非整倍体基因检测：文献综述
Ralph S Papas,William H Kutteh
Ralph S Papas
Recurrent pregnancy loss (RPL) is an obstetrical complication that affects about 3% of reproductive age couples. Genetic and non-genetic causes of RPL are multiple; however, aneuploidy is the most common obstetrical complication that can ex...
A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer [0.03%]
BRCA2相关前列腺癌家族的调查、管理和筛查的病例基础临床方法
Bradley King,Jana McHugh,Katie Snape
Bradley King
BRCA2 is the most commonly implicated DNA damage repair gene associated with inherited prostate cancer. BRCA2 deficient prostate cancer typically presents at a younger age, is more poorly differentiated, and is associated with worse surviva...