PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 21 - 40 de 679
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
- Sánchez, Elena; Sabio, José M; Callejas, José L; de Ramón, Enrique; Garcia-Portales, Rosa; García-Hernández, Francisco J; Jiménez-Alonso, Juan; González-Escribano, Ma Francisca; Martín, Javier; Koeleman, Bobby P
E-selectin S128R polymorphism and severe coronary artery disease in Arabs
- Abu-Amero, Khaled K; Al-Boudari, Olayan M; Mohamed, Gamal H; Dzimiri, Nduna
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3
- Chowdhury, Mahboob A; Kuivaniemi, Helena; Romero, Roberto; Edwin, Samuel; Chaiworapongsa, Tinnakorn; Tromp, Gerard
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection
- Natividad, Angels; Cooke, Graham; Holland, Martin J; Burton, Matthew J; Joof, Hassan M; Rockett, Kirk; Kwiatkowski, Dominic P; Mabey, David CW; Bailey, Robin L
BAC-FISH refutes report of an 8p228p23.1 inversion or duplication in 8 patients with Kabuki syndrome
- Kimberley, Kendra W; Morris, Colleen A; Hobart, Holly H
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
- Santiago, Jose Luis; Martínez, Alfonso; de la Calle, Hermenegildo; Fernández-Arquero, Miguel; Figueredo, M Ángeles; de la Concha, Emilio G; Urcelay, Elena
Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5
- Soler, Júlia M Pavan; Pereira, Alexandre C; Tôrres, César H; Krieger, José E
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
- Nissen, Peter H; Damgaard, Dorte; Stenderup, Anette; Nielsen, Gitte G; Larsen, Mogens L; Færgeman, Ole
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
- Engelfried, Kathrin; Vorgerd, Matthias; Hagedorn, Michaela; Haas, Gerhard; Gilles, Jürgen; Epplen, Jörg T; Meins, Moritz
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
- Cheyssac, Claire; Lecoeur, Cécile; Dechaume, Aurélie; Bibi, Amina; Charpentier, Guillaume; Balkau, Beverley; Marre, Michel; Froguel, Philippe; Gibson, Fernando; Vaxillaire, Martine
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
- Ortiz, Javier; Fernández-Arquero, Miguel; Urcelay, Elena; López-Mejías, Raquel; Ferreira, Antonio; Fontán, Gumersindo; de la Concha, Emilio G; Martínez, Alfonso
Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3
- Christensen, Greg L; Ivanov, Ivaylo P; Wooding, Stephen P; Atkins, John F; Mielnik, Anna; Schlegel, Peter N; Carrell, Douglas T
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients
- Borlak, Juergen; Reamon-Buettner, Stella Marie
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
- Freathy, Rachel M; Weedon, Michael N; Melzer, David; Shields, Beverley; Hitman, Graham A; Walker, Mark; McCarthy, Mark I; Hattersley, Andrew T; Frayling, Timothy M
Familial deletion 18p syndrome: case report
- Maranda, Bruno; Lemieux, Nicole; Lemyre, Emmanuelle
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects
- Elbein, Steven C; Wang, Xiaoqin; Karim, Mohammad A; Chu, Winston S; Silver, Kristi D
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
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
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