Search Results - "Medical genetics"

The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis by Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo, Marcela Guevara, Beatriz Perez-Gomez, Virginia Lope, José María Huerta, Gemma Castaño-Vinyals, Manolis Kogevinas, Victor Moreno, Vicente Martín

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<it>CRP </it>polymorphisms and chronic kidney disease in the third national health and nutrition examination survey by Glenn Kimberly, Griffin Marie R, Ikizler T Alp, Hung Adriana M, Greevy Robert A, Grijalva Carlos G, Siew Edward D, Crawford Dana C

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A functional polymorphism in the <it>SPINK5 </it>gene is associated with asthma in a Chinese Han Population by Li Huaichen, Wang Pin, Li Jisheng, Zhang Wenjing, Xia Yu, Liu Qiji, Wei Chunhua, Gong Yaoqin

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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5 by Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

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Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel by Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi, Zhiya Dong

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KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas by Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan, Michael R. Pins

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The <it>APOA5 </it>Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides by Ferrières Jean, Bingham Annie, Arveiler Dominique, Ruidavets Jean-Bernard, Ducimetière Pierre, Wagner Aline, Cottel Dominique, Dallongeville Jean, Amouyel Philippe, Meirhaeghe Aline

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<it>PNPLA 3</it> I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection by Rembeck Karolina, Maglio Cristina, Lagging Martin, Christensen Peer, Färkkilä Martti, Langeland Nina, Buhl Mads, Pedersen Court, Mørch Kristine, Norkrans Gunnar, Hellstrand Kristoffer, Lindh Magnus, Pirazzi Carlo, Burza Maria, Romeo Stefano, Westin Johan

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<it>TCF7L2 </it>variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population by Mill JG, Sousa AGP, Pereira AC, Marquezine GF, Hueb WA, Krieger JE

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Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (<it>TRPM6 </it>and <it>TRPM7</it>), magnesium intake, and risk of type 2 diabet... by Manson JoAnn E, Niu Tianhua, Hsu Yi-Hsiang, Song Yiqing, Buring Julie E, Liu Simin

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Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study by Nakashima Tsutomu, Ando Fujiko, Sugiura Saiko, Uchida Yasue, Shimokata Hiroshi

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The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children by Rask-Andersen Mathias, Jacobsson Josefin A, Moschonis George, Ek Anna E, Chrousos George P, Marcus Claude, Manios Yannis, Fredriksson Robert, Schiöth Helgi B

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Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study by Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi, Mohammad Hossein Nicknam

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Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation by Usami Shin-ichi, Taiji Hidenobu, Kakishima Hiroki, Takahashi-Kodomari Ikuko, Teruya Eiko, Kouike Hiroko, Mutai Hideki, Okuyama Torayuki, Matsunaga Tatsuo

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Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients by Thatcher Karen N, Kim Dong, Delgado Ivan J, LaSalle Janine M, Van den Veyver Ignatia B

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SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men by Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson, Peter Hackman

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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss by Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan

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Association of polymorphism rs1053005 in STAT3 with chronic hepatitis B virus infection in Han Chinese population by Man Li, Fang Li, Na Li, Jiao Sang, Xiude Fan, Huan Deng, Xiaoge Zhang, Qunying Han, Yi Lv, Zhengwen Liu

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Copy number variation in sulfotransferase isoform 1A1 (SULT1A1) is significantly associated with enzymatic activity in Japanese subjects by Yu X, Kubota T, Dhakal I, Hasegawa S, Williams S, Ozawa S, Kadlubar S

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Lack of association between a functional variant of the BRCA-1 related associated protein (<it>BRAP</it>) gene and ischemic stroke by Liao Yi-Chu, Lin Hsiu-Fen, Guo Yuh-Cherng, Chen Chung-Hung, Huang Zhi-Zhang, Juo Suh-Hang Hank, Lin Ruey-Tay

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