Search Results - "Medical genetics"

A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele by Gleason Carey E, Meethal Sivan, Ahmadi M Reza, Haasl Ryan J, Johnson Sterling C, Asthana Sanjay, Bowen Richard L, Atwood Craig S

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Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report by Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen

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Search for intracranial aneurysm susceptibility gene(s) using Finnish families by Ryynänen Markku, Hernesniemi Juha, Ronkainen Antti, Kuivaniemi Helena, Vongpunsawad Sompong, Olson Jane M, Kim Lee-Lian, Tromp Gerard

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Gene spectrum analysis of thalassemia for people residing in northern China by Zhuo Yang, Wenzhe Zhou, Quexuan Cui, Ling Qiu, Bing Han

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Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria by Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

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HLA haplotypes associated with hemochromatosis mutations in the Spanish population by García-Berciano Miguel, Oliver Desamparados, Castro Maria J, del Rey Manuel J, Mancebo Esther, Pacho Arantza, González Luis, Morales Pablo

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Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics by Kim Ivana K, Miller Joan W, Durante Richard, Morrison Margaux A, Hartman John, Feehan Michael, DeAngelis Margaret M

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A rare combination of MODY5 and duodenal atresia in a patient: a case report by Tao Du, Nan Zeng, Xiaofang Wen, Peizhuang Zhu, Wangen Li

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Using literature-based discovery to identify candidate genes for the interaction between myocardial infarction and depression by Zhenguo Dai, Qian Li, Guang Yang, Yini Wang, Yang Liu, Zhilei Zheng, Yingfeng Tu, Shuang Yang, Bo Yu

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A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia by Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler, Nesrin Özören

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Genetic variants of the promoter of the heme oxygenase-1 gene and their influence on cardiovascular disease (The Ludwigshafen Risk and Cardiovascular Health Study) by Boehm Bernhard O, Wellnitz Britta, Seelhorst Ursula, Winkelmann Bernhard R, Winkler Karl, Lüblinghoff Nicola, März Winfried, Hoffmann Michael M

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Do the mutations of <it>C1GALT1C1 </it>gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? by LV Ji-Cheng, Zhang Hong, Nie Guang-Jun, Li Gui-Sen, Shen Yan, Wang Hai-Yan

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The functional "KL-VS" variant of <it>KLOTHO </it>is not associated with type 2 diabetes in 5028 UK Caucasians by Walker Mark, Hitman Graham A, Shields Beverley, Melzer David, Weedon Michael N, Freathy Rachel M, McCarthy Mark I, Hattersley Andrew T, Frayling Timothy M

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High prevalence of germline <it>STK11 </it>mutations in Hungarian Peutz-Jeghers Syndrome patients by Kasler Miklos, Solyom Szilvia, Kovacs Marietta, Papp Janos, Børresen-Dal, Olah Edith

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A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report by Binlu Zhu, Hong Jiang, Meiling Cao, Xueqi Zhao, Hongkun Jiang

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A novel <it>WFS1 </it>mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings by Verrall Aimee M, Kallman Jeremy C, Bramhall Naomi F, Street Valerie A

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Cumulative evidence for relationships between multiple variants of HNF1B and the risk of prostate and endometrial cancers by Yu Tong, Yi Qu, Shiping Li, Fengyan Zhao, Yibin Wang, Dezhi Mu

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Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype by Wise Carol A, Dobbs Matthew B, Gurnett Christina A, McGregor Tracy L, Morcuende Jose A, Morgan Thomas M, Menon Ramkumar, Muglia Louis J

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Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome by Krumholz Harlan M, Kassebaum Bethany, Lyons Patrick, Xiao Lan, Morgan Thomas M, Spertus John A

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Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study by Raat Hein, Moll Henriette A, van Rossum Elisabeth FC, Koper Jan W, Steegers Eric AP, Geelhoed Miranda JJ, Tiemeier Henning, Hofman Albert, Jaddoe Vincent WV

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