Search Results - "Medical genetics"

Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study by Nilsson Daniel, Andiappan Anand, Halldén Christer, De Yun Wang, Säll Torbjörn, Tim Chew, Cardell Lars-Olaf

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<it>PLAUR </it>polymorphisms and lung function in UK smokers by Connolly Martin J, Wardlaw Andrew J, Moffat Miriam F, Parker Stuart G, Hall Ian P, Stewart Ceri E, Ruse Charlotte, Sayers Ian

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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature by Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia by Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu

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Genetic polymorphisms in the endothelial nitric oxide synthase gene correlate with overall survival in advanced non-small-cell lung cancer patients treated with platinum-based doub... by Mio Tadashi, Kim Young, Kaji Reiko, Hata Akito, Fukuhara Akiko, Hatachi Yukimasa, Masago Katsuhiro, Fujita Shiro, Mishima Michiaki, Katakami Nobuyuki

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration by Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu

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Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study by Sakalihasan Natzi, Shibamura Hidenori, Lu Qing, Parrado Antonio R, Lancaster Wayne D, Tromp Gerard, Skunca Magdalena, Goddard Katrina AB, Gregoire Lucie, Ogata Toru, Limet Raymond, MacKean Gerald L, Arthur Claudette, Sueda Taijiro, Kuivaniemi Helena

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Association of rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms with psoriasis susceptibility: a meta-analysis of case-control studies by Hai-bo Gong, Shu-tao Gao, Xiong-ming Pu, Xiao-jing Kang, Xiu-juan Wu

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An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the <it>HLA-DRB1 </it>gene by Sadovnick A Dessa, Dyment David A, McMahon Roisin, Ramagopalan Sreeram V, Ebers George C, Wittkowski Knut M

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Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis by Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen, Tao Cai

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Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis by Heléne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre, Linda Handlin

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The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease by Mohamed Gamal H, Al-Boudari Olayan M, Abu-Amero Khaled K, Dzimiri Nduna

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Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population by Matsumoto Takayuki, Hori Kazutoshi, Tomita Toshihiko, Tanaka Junji, Sakurai Jun, Nakajima Shigemi, Oshima Tadayuki, Toyoshima Fumihiko, Miwa Hiroto

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Polymorphisms in the interleukin-10 gene cluster are possibly involved in the increased risk for major depressive disorder by Maron Eduard, Eller Triin, Koido Kati, Traks Tanel, Kingo Külli, Vasar Veiko, Vasar Eero, Kõks Sulev

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Genome Wide Association Study to predict severe asthma exacerbations in children using random forests classifiers by Litonjua Augusto A, Wu Ann, Tantisira Kelan G, Xu Mousheng, Chu Jen-hwa, Himes Blanca E, Damask Amy, Weiss Scott T

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Association of the genetic polymorphisms of the <it>ACE </it>gene and the <it>eNOS </it>gene with lupus nephropathy in northern Chinese population by Lian H, Lu F, Zhao Y, Li Y, Jin Z, Guo R, An J, Li X, Liu P, Zhao Y, Jin X

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Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency by Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes

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Alpha and beta-Thalassemia mutations in Hubei area of China by Yaowu Zhu, Na Shen, Xiong Wang, Juan Xiao, Yanjun Lu

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Multiple strand displacement amplification of mitochondrial DNA from clinical samples by Sidransky David, Rom William N, Wagner Paul D, Jakupciak John P, Maragh Samantha, Srivastava Sudhir, O'Connell Catherine D

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Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia by Xiao-dan Long, Jing Xiong, Zhao-hui Mo, Chang-sheng Dong, Ping Jin

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