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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and COL7A1[original query]
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
The British journal of dermatology 2009 Nov 161 (5): 1089-97.
Kern J S, Grüninger G, Imsak R, Müller M L, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has
Association study of MIA3 rs17465637 polymorphism with cardiovascular disease in rheumatoid arthritis patients.
DNA and cell biology 2012 Aug 31 (8): 1412-7.
García-Bermúdez Mercedes, López-Mejías Raquel, González-Juanatey Carlos, Corrales Alfonso, Castañeda Santos, Miranda-Filloy José A, Gómez-Vaquero Carmen, Fernández-Gutiérrez Benjamín, Balsa Alejandro, Pascual-Salcedo Dora, Blanco Ricardo, González-Álvaro Isidoro, Llorca Javier, Martín Javier, González-Gay Miguel
An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients.
International journal of dermatology 2014 Aug 53 (8): 985-90.
Garza-Gómez Jorge, Cerda-Flores Ricardo M, Gómez-Flores Minerva, Salas-Alanís Julio C, Ocampo-Candiani Jorge, Martínez-Garza Laura E, South Andrew P, Gallardo-Blanco Hugo
Mutations Defining Patient Cohorts With Elevated PD-L1 Expression in Gastric Cancer.
Frontiers in pharmacology 2019 1 9 1522.
Menyhárt Otília, Pongor L?rinc Sándor, Gy?rffy Balá
Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer.
BMC cancer 2022 2 22 (1): 139.
Brodsky Alexander S, Khurana Jay, Guo Kevin S, Wu Elizabeth Y, Yang Dongfang, Siddique Ayesha S, Wong Ian Y, Gamsiz Uzun Ece D, Resnick Murray
Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.
Frontiers in neurology 2023 6 14 1159658.
Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit
Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.
Genetics in medicine open 2024 12 2 101895.
Michael R Sargen, Jung Kim, Jeremy S Haley, Hayley P Barker, Piyushkumar A Mundra, Mandy L Ballinger, David M Thomas, David J Carey, Alisa M Goldstein, Douglas R Stewa
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