PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 181 - 200 de 679
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
- Bugeja, Matthew J; Booth, David; Bennetts, Bruce; Heard, Robert; Rubio, Justin; Stewart, Graeme
Lack of MEF2A ?7aa mutation in Irish families with early onset ischaemic heart disease, a family based study
- Horan, Paul G; Allen, Adrian R; Hughes, Anne E; Patterson, Chris C; Spence, Mark; McGlinchey, Paul G; Belton, Christine; Jardine, Tracy CL; McKeown, Pascal P
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
- Maciolek, Nicole L; Alward, Wallace LM; Murray, Jeffrey C; Semina, Elena V; McNally, Mark T
E-selectin S128R polymorphism and severe coronary artery disease in Arabs
- Abu-Amero, Khaled K; Al-Boudari, Olayan M; Mohamed, Gamal H; Dzimiri, Nduna
Three allele combinations associated with Multiple Sclerosis
- Favorova, Olga O; Favorov, Alexander V; Boiko, Alexey N; Andreewski, Timofey V; Sudomoina, Marina A; Alekseenkov, Alexey D; Kulakova, Olga G; Gusev, Eugenyi I; Parmigiani, Giovanni; Ochs, Michael F
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma
- Pettigrew, Melinda M; Gent, Janneane F; Zhu, Yong; Triche, Elizabeth W; Belanger, Kathleen D; Holford, Theodore R; Bracken, Michael B; Leaderer, Brian P
No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility
- Colson, Natalie J; Lea, Rod A; Quinlan, Sharon; Griffiths, Lyn R
On the Wegener granulomatosis associated region on chromosome 6p21.3
- Szyld, Pawe?; Jagiello, Peter; Csernok, Elena; Gross, Wolfgang L; Epplen, Joerg T
A study of the relationships between KLF2 polymorphisms and body weight control in a French population
- Meirhaeghe, Aline; Cottel, Dominique; Amouyel, Philippe
A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
- Núñez, Concepción; López-Mejías, Raquel; Martínez, Alfonso; García-Rodríguez, M Cruz; Fernández-Arquero, Miguel; de la Concha, Emilio G; Urcelay, Elena
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
- Vouk, Katja; Strmecki, Lana; Stekrova, Jitka; Reiterova, Jana; Bidovec, Matjaz; Hudler, Petra; Kenig, Anton; Jereb, Simona; Zupanic-Pajnic, Irena; Balazic, Joze; Haarpaintner, Guido; Leskovar, Bostjan; Adamlje, Anton; Skoflic, Antun; Dovc, Reina; Hojs, Radovan; Komel, Radovan
Potassium channel gene mutations rarely cause atrial fibrillation
- Ellinor, Patrick T; Petrov-Kondratov, Vadim I; Zakharova, Elena; Nam, Edwin G; MacRae, Calum A
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)
- Brown, Justin T; Lahey, Cora; Laosinchai-Wolf, Walairat; Hadd, Andrew G
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
- Ogata, Toru; Gregoire, Lucie; Goddard, Katrina AB; Skunca, Magdalena; Tromp, Gerard; Lancaster, Wayne D; Parrado, Antonio R; Lu, Qing; Shibamura, Hidenori; Sakalihasan, Natzi; Limet, Raymond; MacKean, Gerald L; Arthur, Claudette; Sueda, Taijiro; Kuivaniemi, Helena
?3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)
- Wang, Claire Y; Nguyen, Nguyen D; Morrison, Nigel A; Eisman, John A; Center, Jacqueline R; Nguyen, Tuan V
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
- Li, Chi-Ming; Guo, Meirong; Salas, Martha; Schupf, Nicole; Silverman, Wayne; Zigman, Warren B; Husain, Sameera; Warburton, Dorothy; Thaker, Harshwardhan; Tycko, Benjamin
Paraoxonase gene polymorphisms and haplotype analysis in a stroke population
- Pasdar, Alireza; Ross-Adams, Helen; Cumming, Alastair; Cheung, John; Whalley, Lawrence; St Clair, David; MacLeod, Mary-Joan
The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
- Evans, David; Beil, Frank U
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
- Delgado, Ivan J; Kim, Dong Sun; Thatcher, Karen N; LaSalle, Janine M; Van den Veyver, Ignatia B
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
- Matolweni, Luzuko O; Bardien, Soraya; Rebello, George; Oppon, Ekow; Munclinger, Miroslav; Ramesar, Rajkumar; Watkins, Hugh; Mayosi, Bongani M
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