PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 41 - 60 de 679
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
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
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
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study
- Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Wheeler, Vanessa C; Prakash, Ranjana; Xu, Gang; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Cha, Jang-Ho J; Hersch, Steven M; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Gusella, James F; MacDonald, Marcy E; Myers, Richard H
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
- Hung, Chia-Cheng; Su, Yi-Ning; Chien, Shu-Chin; Liou, Horng-Huei; Chen, Chih-Chuan; Chen, Pau-Chung; Hsieh, Chia-Jung; Chen, Chih-Ping; Lee, Wang-Tso; Lin, Win-Li; Lee, Chien-Nan
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
- Smith, Blair H; Campbell, Harry; Blackwood, Douglas; Connell, John; Connor, Mike; Deary, Ian J; Dominiczak, Anna F; Fitzpatrick, Bridie; Ford, Ian; Jackson, Cathy; Haddow, Gillian; Kerr, Shona; Lindsay, Robert; McGilchrist, Mark; Morton, Robin; Murray, Graeme; Palmer, Colin NA; Pell, Jill P; Ralston, Stuart H; St Clair, David; Sullivan, Frank; Watt, Graham; Wolf, Roland; Wright, Alan; Porteous, David; Morris, Andrew D
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients
- Thakur, Nikita; Reddy, D Nageshwar; Rao, G Venkat; Mohankrishna, P; Singh, Lalji; Chandak, Giriraj R
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
- Saxena, Sunita; Chakraborty, Anurupa; Kaushal, Mishi; Kotwal, Sanjeev; Bhatanager, Dinesh; Mohil, Ravindar S; Chintamani, Chintamani; Aggarwal, Anil K; Sharma, Veena K; Sharma, Prakash C; Lenoir, Gilbert; Goldgar, David E; Szabo, Csilla I
Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans
- Chandak, Giriraj R; Ward, Kirsten J; Yajnik, Chittaranjan S; Pandit, Anand N; Bavdekar, Ashish; Joglekar, Charu V; Fall, Caroline HD; Mohankrishna, P; Wilkin, Terence J; Metcalf, Bradley S; Weedon, Michael N; Frayling, Timothy M; Hattersley, Andrew T
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
- Bentivegna, Angela; Milani, Donatella; Gervasini, Cristina; Castronovo, Paola; Mottadelli, Federica; Manzini, Stefano; Colapietro, Patrizia; Giordano, Lucio; Atzeri, Francesca; Divizia, Maria T; Uzielli, Maria L Giovannucci; Neri, Giovanni; Bedeschi, Maria F; Faravelli, Francesca; Selicorni, Angelo; Larizza, Lidia
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease
- Mai, Maren; Akkad, Amer D; Wieczorek, Stefan; Saft, Carsten; Andrich, Jürgen; Kraus, Peter H; Epplen, Jörg T; Arning, Larissa
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke
- Dutra, Ana VC; Lin, Hsiu-Fen; Juo, Suh-Hang H; Mohrenweiser, Harvey; Sen, Souvik; Grewal, Raji P
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
- Thongnoppakhun, Wanna; Limwongse, Chanin; Vareesangthip, Kriengsak; Sirinavin, Chintana; Bunditworapoom, Duangkamon; Rungroj, Nanyawan; Yenchitsomanus, Pa-thai
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
- Medlej-Hashim, Myrna; Delague, Valérie; Chouery, Eliane; Salem, Nabiha; Rawashdeh, Mohammed; Lefranc, Gérard; Loiselet, Jacques; Mégarbané, André
A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians
- Garasto, Sabrina; Berardelli, Maurizio; DeRango, Francesco; Mari, Vincenzo; Feraco, Emidio; De Benedictis, Giovanna
A case of familial isolated hemihyperplasia
- Heilstedt, Heidi A; Bacino, Carlos A
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