PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 81 - 100 de 679
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
- Reddy, Kavita S
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
- Calado, Joaquim; Gaspar, Augusta; Clemente, Carla; Rueff, José
SNP genotyping to screen for a common deletion in CHARGE Syndrome
- Lalani, Seema R; Safiullah, Arsalan M; Fernbach, Susan D; Phillips, Michael; Bacino, Carlos A; Molinari, Laura M; Glass, Nancy L; Towbin, Jeffrey A; Craigen, William J; Belmont, John W
Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
- Zakharova, Faina M; Damgaard, Dorte; Mandelshtam, Michail Y; Golubkov, Valery I; Nissen, Peter H; Nilsen, Gitte G; Stenderup, Anette; Lipovetsky, Boris M; Konstantinov, Vladimir O; Denisenko, Alexander D; Vasilyev, Vadim B; Faergeman, Ole
Theories of schizophrenia: a genetic-inflammatory-vascular synthesis
- Hanson, Daniel R; Gottesman, Irving I
Association between a variation in the phosphodiesterase 4D gene and bone mineral density
- Reneland, Richard H; Mah, Steven; Kammerer, Stefan; Hoyal, Carolyn R; Marnellos, George; Wilson, Scott G; Sambrook, Philip N; Spector, Tim D; Nelson, Matthew R; Braun, Andreas
Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene
- Crawford, Nigel PS; Eichenberger, Maurice R; Colliver, Daniel W; Lewis, Robert K; Cobbs, Gary A; Petras, Robert E; Galandiuk, Susan
First molecular screening of deafness in the Altai Republic population
- Posukh, Olga; Pallares-Ruiz, Nathalie; Tadinova, Vera; Osipova, Ludmila; Claustres, Mireille; Roux, Anne-Françoise
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
- Ma, Shaochun; Abou-Khalil, Bassel; Sutcliffe, James S; Haines, Jonathan L; Hedera, Peter
Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan
- Lai, Te-Jen; Wu, Chia-Yen; Tsai, Hsu-Wen; Lin, Yi-Mei J; Sun, H Sunny
Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population
- Ghoussaini, Maya; Meyre, David; Lobbens, Stéphane; Charpentier, Guillaume; Clément, Karine; Charles, Marie-Aline; Tauber, Maïté; Weill, Jacques; Froguel, Philippe
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
- Damgaard, Dorte; Nissen, Peter H; Jensen, Lillian G; Nielsen, Gitte G; Stenderup, Anette; Larsen, Mogens L; Faergeman, Ole
The Familial Intracranial Aneurysm (FIA) study protocol
- Broderick, Joseph P; Sauerbeck, Laura R; Foroud, Tatiana; Huston, John; Pankratz, Nathan; Meissner, Irene; Brown, Robert D
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
- Stepp, Monica L; Cason, A Lauren; Finnis, Merran; Mangelsdorf, Marie; Holinski-Feder, Elke; Macgregor, David; MacMillan, Andrée; Holden, Jeanette JA; Gecz, Jozef; Stevenson, Roger E; Schwartz, Charles E
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
- Schüle, Birgitt; Albalwi, Mohammed; Northrop, Emma; Francis, David I; Rowell, Margaret; Slater, Howard R; Gardner, RJ McKinlay; Francke, Uta
CYP3A4 and CYP3A5 genotyping by Pyrosequencing
- Garsa, Adam A; McLeod, Howard L; Marsh, Sharon
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
- Muncke, Nadja; Niesler, Beate; Roeth, Ralph; Schön, Karin; Rüdiger, Heinz-Juergen; Goldmuntz, Elizabeth; Goodship, Judith; Rappold, Gudrun
Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes
- Latimer, Jean J; Rubinstein, Wendy S; Johnson, Jennifer M; Kanbour-Shakir, Amal; Vogel, Victor G; Grant, Stephen G
No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study
- Brookes, Keeley-Joanne; Xu, Xiaohui; Chen, Chih-Ken; Huang, Yu-Shu; Wu, Yu-Yu; Asherson, Philip
Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility
- Curtain, Robert; Sundholm, James; Lea, Rod; Ovcaric, Mick; MacMillan, John; Griffiths, Lyn
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