Search Results - "Medical genetics"

Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study by di Giuseppe Romina, Pechlivanis Sonali, Fisher Eva, Arregui Maria, Weikert Beate, Knüppel Sven, Buijsse Brian, Fritsche Andreas, Willich Stefan N, Joost Hans-Georg, Boeing Heiner, Moebus Susanne, Weikert Cornelia

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Association analysis of <it>PON2 </it>genetic variants with serum paraoxonase activity and systemic lupus erythematosus by Manzi Susan, Ramsey-Goldman Rosalind, Rhew Elisa Y, Kao Amy H, Dressen Amy S, Demirci F Yesim, Dasgupta Sudeshna, Kammerer Candace M, Kamboh M Ilyas

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Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability by Ralston Stuart H, Pell Jill P, Palmer Colin NA, Murray Graeme, Morton Robin, McGilchrist Mark, Lindsay Robert, Kerr Shona, Haddow Gillian, Jackson Cathy, Ford Ian, Fitzpatrick Bridie, Dominiczak Anna F, Deary Ian J, Connor Mike, Connell John, Blackwood Douglas, Campbell Harry, Smith Blair H, St Clair David, Sullivan Frank, Watt Graham, Wolf Roland, Wright Alan, Porteous David, Morris Andrew D

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Novel reference genes in colorectal cancer identify a distinct subset of high stage tumors and their associated histologically normal colonic tissues by Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof, Amy S. Rosenberg

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Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study by Foster Meredith C, Yang Qiong, Hwang Shih-Jen, Hoffmann Udo, Fox Caroline S

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Trastornos autoinflamatorios de la queratinización by A. Peña-Rosado, N. Riera-Martí, V. Expósito-Serrano, J. Romaní

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β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus by Riccardi Gabriele, Lapice Emanuela, Donnarumma Giovanna, Cocozza Sergio, Acquaviva Fabio, Giacchetti Manuela, Pinelli Michele, Romano Geremia, Vaccaro Olga, Monticelli Antonella

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A partial <it>MECP2</it> duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the <it>MECP2</it> duplication phenotype by Hanchard Neil A, Carvalho Claudia MB, Bader Patricia, Thome Aaron, Omo-Griffith Lisa, del Gaudio Daniela, Pehlivan Davut, Fang Ping, Schaaf Christian P, Ramocki Melissa B, Lupski James R, Cheung Sau Wai

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Genetic testing of newborns for type 1 diabetes susceptibility: a prospective cohort study on effects on maternal mental health by Magnus Per, Kise Marit S, Tambs Kristian, Aas Kaja K, Rønningen Kjersti S

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<it>N-acetyltransferase 2 </it>(<it>NAT2</it>) gene polymorphisms in colon and lung cancer patients by Borlak Juergen, Reamon-Buettner Stella

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Genetic variants in the TIRAP gene are associated with increased risk of sepsis-associated acute lung injury by Jiang Jinjun, Yao Chenling, Shen Yao, Sun Zhan, Tong Chaoyang, Song Zhenju, Yin Jun, Gao Lei, Song Yuanlin, Bai Chunxue

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Association of obesity risk SNPs in <it>PCSK1 </it>with insulin sensitivity and proinsulin conversion by Häring Hans-Ulrich, Staiger Harald, Stefan Norbert, Machicao Fausto, Thamer Claus, Ketterer Caroline, Schäfer Silke A, Haupt Axel, Heni Martin, Fritsche Andreas

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CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context by Sneha D. Varkki, Rekha Aaron, Aaron Chapla, Sumita Danda, Priyanka Medhi, N. Jansi Rani, Grace R. Paul

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Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity by Rief Winfried, Scherag Susann, Vogel Carla IG, Grallert Harald, Scherag André, Greene Brandon H, Nguyen Trang T, Carrie Jophia, Wandolski Melanie, Brönner Günter, Müller Timo D, Wichmann Hans-Erich, Illig Thomas, Schäfer Helmut, Hebebrand Johannes, Hinney Anke

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ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients by Alicja E. Grzegorzewska, Leszek Niepolski, Monika K. Świderska, Adrianna Mostowska, Ireneusz Stolarek, Wojciech Warchoł, Marek Figlerowicz, Paweł P. Jagodziński

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A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract:... by Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota, Daiki Taniyama, Kazuya Kuraoka, Hirotaka Tashiro

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Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen by Brambilla Donald, Clair Betsy, McKie Virgil C, Snieder Harold, Adams Gaye T, Adams Robert J, Kutlar Ferdane, Kutlar Abdullah

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High-throughput mutational analysis of <it>TOR1A </it>in primary dystonia by Truong Daniel D, Tarsy Daniel, Simon David K, Hedera Peter, Uitti Ryan J, Wszolek Zbigniew K, Batish Sat, Blitzer Andrew, Paniello Randal C, Karimi Morvarid, Tabbal Samer D, Racette Brad A, Perlmutter Joel S, Bastian Robert W, Xiao Jianfeng, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark S

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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma by Wong Nora, Ferrando Barbara, Pasini Barbara, Menko Fred H, Oomen Peter HN, Jansen Jeroen C, Weiss Marjan M, van Minderhout Ivonne, Bayley Jean-Pierre, Alpert Lesley C, Williams Rosie, Blair Edward, Devilee Peter, Taschner Peter EM

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The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study by Tjønneland Anne, Jacobsen Bent A, Østergaard Mette, Christensen Jane, Ernst Anja, Andersen Vibeke, Krarup Henrik B, Vogel Ulla

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