Search Results - "Medical Genetics"

E-selectin gene polymorphisms are associated with essential hypertension: a case-control pilot study in a Chinese population by Wang Zuoguang, Liu Ya, Liu Jieling, Liu Kuo, Lou Yuqin, Wen Jie, Niu Qiuli, Wen Shaojun, Wu Zhaosu

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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension by Krusius Tom, Virtamo Jarmo, Miettinen Helena E, Piippo Kirsi, Fodstad Heidi, Helin Karri, Fyhrquist Frej, Tikkanen Tuula, Tikkanen Ilkka, Kontula Kimmo, Hannila-Handelberg Tuula, Sarna Seppo, Gautschi Ivan, Schild Laurent, Hiltunen Timo P

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A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report by Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang

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Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads by Myking Solveig, Myhre Ronny, Gjessing Håkon K, Morken Nils-Halvdan, Sengpiel Verena, Williams Scott M, Ryckman Kelli K, Magnus Per, Jacobsson Bo

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Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies by Chatterjee Arpita, Dutta Samikshan, Mukherjee Sanjit, Mukherjee Nupur, Dutta Avirup, Mukherjee Ashis, Sinha Swagata, Panda Chinmay Kumar, Chaudhuri Keya, Roy Ananda L, Mukhopadhyay Kanchan

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A 115-bp MethyLight assay for detection of <it>p16 </it>(CDKN2A) methylation as a diagnostic biomarker in human tissues by Liu Hongwei, Lu Zheming, Cao Jie, Zhou Jing, Deng Dajun

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Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India by Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth

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Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population by Yuming Bai, Shijun Gao, Ying Liu, Shengli Jin, Haisen Zhang, Ke Su

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Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India by Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy

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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene by Warnich Louise, Kinnear Craig, Venter Mauritz, van der Merwe Lize, Keyser Rowena J, Carr Jonathan, Bardien Soraya

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Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes by Mouhrach I, Bouguenouch L, Kamal A, Meriame A, El Khorb N, El Azami El Idrissi M, Akoudad H, Bekkari H

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Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (<it>KIF6</it>) Tr... by Pendyala Lakshmana, Williams Paul, Superko Robert

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The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation by Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia

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Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes by Spector Timothy D, Malik Suneil, Villegas Andre, Brenner Darren, Dastani Zari, Garcia-Bailo Bibiana, Arora Paul, Richards Brent, El-Sohemy Ahmed, Karmali Mohamed, Badawi Alaa

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HLA class I (-A, -B, -C) and class II (-DR, -DQ) polymorphism in the Mauritanian population by Cheikh Tijani Hamed, Ghlana Meiloud, Fatimetou Veten, Mouna Hadrami, Sidi M. Ghaber, Ely C. Boussaty, Norddine Habti, Ahmed Houmeida

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Genetic and functional association of <it>FAM5C </it>with myocardial infarction by Crossman David C, Seo David, Haynes Carol, Wang Ty, Lou Xuemei, Hale A Brent, Crosslin David R, Nelson Sarah, Gadson Shera, Doss Jennifer F, Shah Svati H, Connelly Jessica J, Mooser Vincent, Granger Christopher B, Jones Christopher JH, Kraus William E, Hauser Elizabeth R, Gregory Simon G

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Effect of GRM7 polymorphisms on the development of noise-induced hearing loss in Chinese Han workers: a nested case-control study by Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu, Shanfa Yu

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<it>HNF1A </it>G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study by Gittelsohn Joel, Connelly Philip W, Cao Henian, Mamakeesick Mary, Harris Stewart B, Hegele Robert A, Ley Sylvia H, Retnakaran Ravi, Zinman Bernard, Hanley Anthony J

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SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct by Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith

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Confirmation of the genetic association of <it>CTLA4 </it>and <it>PTPN22 </it>with ANCA-associated vasculitis by Watts Richard A, Harper Lorraine, Williams Julie, Niederer Heather A, Carr Edward J, Lyons Paul A, Smith Kenneth GC

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