Search Results - "Medical genetics"

Non-coding RNA <it>ANRIL</it> and the number of plexiform neurofibromas in patients with <it>NF1</it> microdeletions by Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard

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Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study by Umile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, Giacomo Rizzello, Caterina Fusilli, Nicola Maffulli, Alessandro De Luca, Vincenzo Denaro

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Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer by Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller

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Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder by Tzeng Dong-Sheng, Lung For-Wey, Huang Mei-Feng, Lee Ming-Been

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Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies by Larson Martin G, Benjamin Emelia J, Levy Daniel, Yang Qiong, Boerwinkle Eric, Hwang Shih-Jen, Kao Wen, Kottgen Anna, Astor Brad C, Coresh Josef, Fox Caroline S

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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay by Rupreht Ruth, Vaupotič Tomaž, Cukjati Marko, Čurin-Šerbec Vladka

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PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population by Wen-Yi Yang, Thibault Petit, Nicholas Cauwenberghs, Zhen-Yu Zhang, Chang-Sheng Sheng, Lutgarde Thijs, Erika Salvi, Benedetta Izzi, Christophe Vandenbriele, Fang-Fei Wei, Yu-Mei Gu, Lotte Jacobs, Lorena Citterio, Simona Delli Carpini, Cristina Barlassina, Daniele Cusi, Marc F. Hoylaerts, Peter Verhamme, Tatiana Kuznetsova, Jan A. Staessen

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Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes by Rivera Natalia V, Carreras-Torres Robert, Roncarati Roberta, Viviani-Anselmi Chiara, De Micco Francesca, Mezzelani Alessandra, Koch Werner, Hoppmann Petra, Kastrati Adnan, Stewart Alexandre FR, Chen Li, Roberts Robert, Karssen Lennart C, Amin Najaf, Trimarco Valentina, Izzo Raffaele, Iaccarino Guido, Condorelli Gerolama, Puca Annibale A, Pagnotta Paolo, Airoldi Flavio, Trimarco Bruno, van Duijn Cornelia M, Condorelli Gianluigi, Briguori Carlo

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Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham Heart Study data by Tanaka Toshiko, Runesha H, Yang Jing, Ma Li, Ferrucci Luigi, Bandinelli Stefania, Da Yang

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Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women by Paulo Roberto Xavier Tomaz, Juliana Rocha Santos, Jaqueline Scholz, Tânia Ogawa Abe, Patrícia Viviane Gaya, André Brooking Negrão, José Eduardo Krieger, Alexandre Costa Pereira, Paulo Caleb Júnior Lima Santos

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Promoter polymorphism -119C/G in <it>MYG1 </it>(C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1 by Vikeså Jonas, Porosaar Orm, Reemann Paula, Reimann Ene, Aunin Eerik, Rätsep Ranno, Karelson Maire, Kingo Külli, Philips Mari-Anne, Nielsen Finn C, Vasar Eero, Silm Helgi, Kõks Sulev

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An entire exon 3 germ-line rearrangement in the <it>BRCA2 </it>gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition by Demange Liliane, Limacher Jean, Noguès Catherine, Caron Olivier, Bièche Ivan, Lefol Cédrick, Caputo Sandrine, Schultz Inès, Rouleau Etienne, Muller Danièle, Lidereau Rosette, Fricker Jean, Abecassis Joseph

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Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (<it>GRL</it>) on human obesity by Martínez-González Miguel, Martínez J Alfredo, Sánchez-Villegas Almudena, Ochoa M Carmen, Marti Amelia, Hebebrand Johannes, Hinney Anke, Vedder Helmut

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The association between genetic variants in <it>hMLH1 </it>and <it>hMSH2 </it>and the development of sporadic colorectal cancer in the Danish population by Syvänen Ann-Christine, Olsen Anja, Tjønneland Anne, Koed Karen, Wiuf Carsten, Wikman Friedrik P, Madsen Bo E, Christensen Lise, Andersen Claus L, Ørntoft Torben F

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Variants in <it>KCNQ1 </it>increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US by Aston Christopher E, Mulvihill John J, Singh JaiRup, Mehra Narinder K, Wander Gurpreet S, Ralhan Sarju, Been Latonya F, Sanghera Dharambir K

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Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid <it>TBX1 </it>locus by Xu Yue-Juan, Wang Jian, Xu Rang, Zhao Peng-Jun, Wang Xi-Ke, Sun Heng-Juan, Bao Li-Ming, Shen Jie, Fu Qi-Hua, Li Fen, Sun Kun

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The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure by Frusciante Roberto, Galluzzi Giuliana, Colantoni Luca, Ricci Enzo, Rossi Monica, Tonali Pietro A, Felicetti Luciano

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Mutation screening of <it>ASMT</it>, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability by Tzschach Andreas, Launay Jean-Marie, Delorme Richard, Van Esch Hilde, de Brouwer Arjan, Moreno Sarah, Jamain Stéphane, Dumaine Anne, Poirier Karine, Botros Hany, Pagan Cecile, Kalscheuer Vera, Lacombe Didier, Briault Sylvain, Laumonnier Frédéric, Raynaud Martine, van Bon Bregje W, Willemsen Marjolein H, Leboyer Marion, Chelly Jamel, Bourgeron Thomas

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Haploinsufficiency for <it>BRCA1 </it>is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes by Johnson Jennifer M, Rubinstein Wendy S, Latimer Jean J, Kanbour-Shakir Amal, Vogel Victor G, Grant Stephen G

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The <it>INSIG2 </it>rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts by Mosley Thomas H, Dent Robert, McPherson Ruth, Lewis Cora E, Kao Wen, Hanis Craig L, Fornage Myriam, Bressler Jan, Pennacchio Len A, Boerwinkle Eric

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