PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 161 - 180 de 679
Genetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study
- Bakker, Mirjam I; May, Linda; Hatta, Mochammad; Kwenang, Agnes; Klatser, Paul R; Oskam, Linda; Houwing-Duistermaat, Jeanine J
Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
- Bento, Jennifer L; Bowden, Donald W; Mychaleckyj, Josyf C; Hirakawa, Shohei; Rich, Stephen S; Freedman, Barry I; Segade, Fernando
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
- Bayley, Jean-Pierre; Devilee, Peter; Taschner, Peter EM
The host response to the probiotic Escherichia coli strain Nissle 1917: Specific up-regulation of the proinflammatory chemokine MCP-1
- Ukena, Sya N; Westendorf, Astrid M; Hansen, Wiebke; Rohde, Manfred; Geffers, Robert; Coldewey, Sina; Suerbaum, Sebastian; Buer, Jan; Gunzer, Florian
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
- Bayley, Jean-Pierre; van Minderhout, Ivonne; Weiss, Marjan M; Jansen, Jeroen C; Oomen, Peter HN; Menko, Fred H; Pasini, Barbara; Ferrando, Barbara; Wong, Nora; Alpert, Lesley C; Williams, Rosie; Blair, Edward; Devilee, Peter; Taschner, Peter EM
Influence of advanced age of maternal grandmothers on Down syndrome
- Malini, Suttur S; Ramachandra, Nallur B
Peroxisomal proliferator activated receptor-? deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
- Francis, Gordon A; Li, Gang; Casey, Robin; Wang, Jian; Cao, Henian; Leff, Todd; Hegele, Robert A
The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis
- Nicolis, Elena; Pasetto, Matteo; Cigana, Cristina; Pradal, Ugo; Assael, Baroukh M; Melotti, Paola
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue
- Chialina, Sergio G; Fornes, Claudia; Landi, Carolina; de La Vega Elena, Carlos D; Nicolorich, Maria V; Dourisboure, Ricardo J; Solano, Angela; Solis, Edita A
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
- Brooks, Brian P; Meck, Jeanne M; Haddad, Bassem R; Bendavid, Claude; Blain, Delphine; Toretsky, Jeffrey A
Genomic screen for loci associated with tobacco usage in Mission Indians
- Ehlers, Cindy L; Wilhelmsen, Kirk C
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
- Lalani, Seema R; Sahoo, Trilochan; Sanders, Merideth E; Peters, Sarika U; Bejjani, Bassem A
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations
- Rudkin, Teresa M; Hamel, Nancy; Galvez, Maria; Hogervorst, Frans; Gille, Johan JP; Møller, Pål; Apold, Jaran; Foulkes, William D
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload
- Cruz, Eugénia; Vieira, Jorge; Almeida, Susana; Lacerda, Rosa; Gartner, Andrea; Cardoso, Carla S; Alves, Helena; Porto, Graça
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions
- Uddin, Raihan K; Zhang, Yang; Siu, Victoria Mok; Fan, Yao-Shan; O'Reilly, Richard L; Rao, Jay; Singh, Shiva M
Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program
- Laramie, Jason M; Wilk, Jemma B; Hunt, Steven C; Ellison, R Curtis; Chakravarti, Aravinda; Boerwinkle, Eric; Myers, Richard H
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
- Pandit, Bhaswati; Ahn, Gwang-Sook; Hazard, Starr E; Gordon, Derek; Patel, Shailendra B
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases
- Smyth, Deborah J; Howson, Joanna MM; Payne, Felicity; Maier, Lisa M; Bailey, Rebecca; Holland, Kieran; Lowe, Christopher E; Cooper, Jason D; Hulme, John S; Vella, Adrian; Dahlman, Ingrid; Lam, Alex C; Nutland, Sarah; Walker, Neil M; Twells, Rebecca CJ; Todd, John A
Gene expression profiles in Finnish twins with multiple sclerosis
- Särkijärvi, Silja; Kuusisto, Hanna; Paalavuo, Raija; Levula, Mari; Airla, Nina; Lehtimäki, Terho; Kaprio, Jaakko; Koskenvuo, Markku; Elovaara, Irina
Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity
- Barton, James C; Barton, Ellen H; Acton, Ronald T
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