Search Results - "Medical genetics"

Variation in the <it>UCP2 </it>and <it>UCP3 </it>genes associates with abdominal obesity and serum lipids: The Finnish Diabetes Prevention Study by Ilanne-Parikka Pirjo, Aunola Sirkka, Valle Timo T, Eriksson Johan G, Tolppanen Anna-Maija, Kolehmainen Marjukka, Lindström Jaana, Pulkkinen Leena, Salopuro Titta, Keinänen-Kiukaanniemi Sirkka, Tuomilehto Jaakko, Laakso Markku, Uusitupa Matti

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Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study by McGorrian Catherine, McShane Charlene, McQuade Colin, Keelan Ted, Neill Jim O, Galvin Joseph, Malone Kevin, Mahon Niall G, Codd Mary

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Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease by Chávez Mireya, Rodríguez Yaneth, Sosa Ana-Luisa, Yescas Petra, Familiar Itziar, De Biase Irene, Ochoa Adriana, Alonso Elisa, Rasmussen Astrid, López-López Marisol, Bidichandani Sanjay I

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Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency by Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai, Jianbo Shu

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Relationship of thymic area with clinical-epidemiological variables and values of T-lymphocyte subpopulations in peripheral blood of children with recurrent infections by Francisco Sotomayor Lugo, Yaíma Zúñiga Rosales, Oliver Pérez Martín, Evelyn Hernández Reyes, Evelyn M. Antiguas Valdés, Hermes Fundora Hernández, Katia Rodríguez Guitiérrez, Yaima Matas González, Imilla Casado Hernández, Carlos Agustín Villegas Valverde, Bárbara Torres Rives, Lázara Minerva Tam Rey, Ihosvany González Díaz, Yaquima Hernández Rego, Ana María Simón Pita, Consuelo Macías Abraham, Beatriz Marcheco Teruel

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Otitis media: a genome-wide linkage scan with evidence of susceptibility loci within the 17q12 and 10q22.3 regions by Tekely Kathleen, Ferrell Robert E, Jung Jeesun, Mandel Ellen M, Casselbrant Margaretha L, Szatkiewicz Jin P, Ray Amrita, Weeks Daniel E

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Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review by Zhaowei Zhou, Lidan Ma, Juan Zhou, Zhijian Song, Jinmai Zhang, Ke Wang, Boyu Chen, Dun Pan, Zhiqiang Li, Changgui Li, Yongyong Shi

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Polymorphisms in IL36G gene are associated with plaque psoriasis by Tanel Traks, Maris Keermann, Ele Prans, Maire Karelson, Ulvi Loite, Gea Kõks, Helgi Silm, Sulev Kõks, Külli Kingo

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An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production by Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari

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The vitamin D receptor polymorphism in the translation initiation codon is a risk factor for insulin resistance in glucose tolerant Caucasians by Yoon Carol, Chuang Lee-Ming, Chiu Ken C

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Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis - a cohort study by Arner Peter, Gustafsson Jan-Åke, Jiao Hong, Dahlman Ingrid, Nilsson Maria, Dahlman-Wright Karin

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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects by Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto

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Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes by Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui, Yujun Chen

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Founder mutations in <it>BRCA1/2 </it>are not frequent in Canadian Ashkenazi Jewish men with prostate cancer by Kotar Kimberley, Hamel Nancy, Foulkes William D

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Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients by Gaj Pawel, Habior Andrzej, Mikula Michal, Ostrowski Jerzy

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An interaction between <it>Nrf2 </it>polymorphisms and smoking status affects annual decline in FEV₁: a longitudinal retrospective cohort study by Hirota Tomomitsu, Noguchi Emiko, Iijima Hiroaki, Naito Takashi, Kaneko Yoshiko, Sakamoto Tohru, Masuko Hironori, Tamari Mayumi, Hizawa Nobuyuki

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SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention - the TULIP Study by Stefan Norbert, Tschritter Otto, Machann Jürgen, Schick Fritz, Reinhardt Julia, Machicao Fausto, Weyrich Peter, Fritsche Andreas, Häring Hans-Ulrich

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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings by Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

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Vitamin D receptor ApaI polymorphism associated with progression of liver disease in Vietnamese patients chronically infected with hepatitis B virus by Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan, Le Huu Song

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Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and... by Dallongeville Jean, Ruiz Jonatan R, Widhalm Kurt, Valtueña Jara, Romeo Javier, Lien Sigbjorn, Amouyel Philippe, Ferrières Jean, Holven Kirsten B, Berg Paul R, Retterstol Kjetil, Legry Vanessa, Solaas Karianne, Tonstad Serena, Rootwelt Helge, Halvorsen Bente, Nenseter Marit S, Birkeland Kare I, Thorsby Per M, Meirhaeghe Aline, Nebb Hilde I

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