PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 121 - 140 de 679
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome
- Selvaraju, Veeriah; Markandaya, Manjunath; Prasad, Pullabatla Venkata Siva; Sathyan, Parthasarathy; Sethuraman, Gomathy; Srivastava, Satish Chandra; Thakker, Nalin; Kumar, Arun
Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen
- Adams, Gaye T; Snieder, Harold; McKie, Virgil C; Clair, Betsy; Brambilla, Donald; Adams, Robert J; Kutlar, Ferdane; Kutlar, Abdullah
Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
- Hamel, Nancy; Kotar, Kimberley; Foulkes, William D
Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CAD
- Baroni, Marco G; Berni, Andrea; Romeo, Stefano; Arca, Marcello; Tesorio, Tullio; Sorropago, Giovanni; Di Mario, Umberto; Galton, David J
Association of HLA class I with severe acute respiratory syndrome coronavirus infection
- Lin, Marie; Tseng, Hsiang-Kuang; Trejaut, Jean A; Lee, Hui-Lin; Loo, Jun-Hun; Chu, Chen-Chung; Chen, Pei-Jan; Su, Ying-Wen; Lim, Ken Hong; Tsai, Zen-Uong; Lin, Ruey-Yi; Lin, Ruey-Shiung; Huang, Chun-Hsiung
A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the ret proto-oncogene related to MEN 2A.
- Roqué, MarÃa; Pusiol, Eduardo; Perinetti, Héctor; Godoy, Clara Pott; Mayorga, Luis S
PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients
- Miterski, Bianca; Sindern, Eckhart; Haupts, Michael; Schimrigk, Sebastian; Epplen, Joerg T
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
- Giardina, Emiliano; Capon, Francesca; D'Apice, M Rosaria; Amati, Francesca; Arturi, Franco; Filetti, Sebastiano; Bonifazi, Emanuela; Pucci, Sabina; Conte, Chiara; Novelli, Giuseppe
SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method
- Tozaki, Teruaki; Choi-Miura, Nam-Ho; Taniyama, Matsuo; Kurosawa, Masahiko; Tomita, Motowo
Search for intracranial aneurysm susceptibility gene(s) using Finnish families
- Olson, Jane M; Vongpunsawad, Sompong; Kuivaniemi, Helena; Ronkainen, Antti; Hernesniemi, Juha; Ryynänen, Markku; Kim, Lee-Lian; Tromp, Gerard
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique
- Sangiuolo, Federica; Bruscia, Emanuela; Serafino, Annalucia; Nardone, Anna Maria; Bonifazi, Emanuela; Lais, Monica; Gruenert, Dieter C; Novelli, Giuseppe
Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
- Germain, Dominique P; Avan, Paul; Chassaing, Augustin; Bonfils, Pierre
HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama
- Barton, James C; Acton, Ronald T
Telomerase activity in human leukemic cells with or without monosomy 7 or 7q-
- Serakinci, Nedime; Koch, Jørn E
An Improved RSP Method to Detect HpaI Polymorphism in the Apolipoprotein C-1 Gene Promoter
- Gao, Li; Gabriel, Curt; Lavoie, Tera; Ye, Shui Qing
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
- Traynor, Jeff; Agarwal, Priyanka; Lazzeroni, Laura; Francke, Uta
Frequency of CHEK2*1100delC in New York breast cancer cases and controls
- Offit, Kenneth; Pierce, Heather; Kirchhoff, Tomas; Kolachana, Prema; Rapaport, Beth; Gregersen, Peter; Johnson, Steven; Yossepowitch, Orit; Huang, Helen; Satagopan, Jaya; Robson, Mark; Scheuer, Lauren; Nafa, Khedoudja; Ellis, Nathan
Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures
- Lipsitch, Marc; Bergstrom, Carl T; Antia, Rustom
HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama
- Barton, James C; Bertoli, Luigi F; Acton, Ronald T
Molecular epidemiology of DFNB1 deafness in France
- Roux, Anne-Françoise; Pallares-Ruiz, Nathalie; Vielle, Anne; Faugère, Valérie; Templin, Carine; Leprevost, Dorothée; Artières, Françoise; Lina, Geneviève; Molinari, Nicolas; Blanchet, Patricia; Mondain, Michel; Claustres, Mireille
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