Search Results - "Medical genetics"

Gene polymorphisms in association with emerging cardiovascular risk markers in adult women by Dowling Nicole F, Hayes Donald, Ned Renée, Fang Jing, House Meaghan, Chang Man-huei, Yesupriya Ajay, Fan Amy Z, Mokdad Ali H

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Invitations and incentives: a qualitative study of behavioral nudges for primary care screenings in Armenia by Estelle Gong, Adanna Chukwuma, Emma Ghazaryan, Damien de Walque

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Common variants in the regulative regions of <it>GRIA1 </it>and <it>GRIA3 </it>receptor genes are associated with migraine susceptibility by Gianfrancesco Fernando, Griffiths Lyn R, Diodato Daria, Farina Olimpia, Sampaolo Simone, Aloia Andrea, Formicola Daniela, Di Iorio Giuseppe, Esposito Teresa

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SNP genotyping to screen for a common deletion in CHARGE Syndrome by Molinari Laura M, Bacino Carlos A, Phillips Michael, Fernbach Susan D, Safiullah Arsalan M, Lalani Seema R, Glass Nancy L, Towbin Jeffrey A, Craigen William J, Belmont John W

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Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review by Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu, Ji-Hong Wu

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The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature by Frackelton Edward C, Deliard Sandra, Garris Maria L, Thomas Kelly A, Keating Brendan J, Hou Cuiping, Glessner Joseph T, Kim Cecilia E, Sleiman Patrick M, Wang Kai, Mentch Frank D, Zhang Haitao, Bradfield Jonathan P, Li Mingyao, Zhao Jianhua, Otieno F George, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan FA

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The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis by Xi Wu, Qiulan Ding, Xuefeng Wang, Jing Dai, Wenman Wu

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A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients by Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu

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A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS) by Kogevinas Manolis, Ramon González Juan, Bustamante Mariona, Castro-Giner Francesc, Jarvis Deborah, Heinrich Joachim, Antó Josep-Maria, Wjst Matthias, Estivill Xavier, de Cid Rafael

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Association between the IL-10 and IL-6 polymorphisms and brucellosis susceptibility: a meta-analysis by Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen, Youtao Zhang

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Low penetrance of a <it>SDHB </it>mutation in a large Dutch paraganglioma family by Jansen Jeroen C, Romijn Johannes A, Morreau Hans, Stokkel Marcel PM, Bonsing Bert A, van Bunderen Patrick A, de Miranda Noel F, Woortman Sanne A, Weiss Marjan M, Hes Frederik J, Vriends Annette HJT, Bayley Jean-Pierre L, Corssmit Eleonora PM

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Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms by Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang, Le Huu Song

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Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family by Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen

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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2 by Kreuz Friedmar, Bürk Katrin, Minnerop Martina, Bernard Veronica, Gillessen-Kaesbach Gabriele, Zühlke Christine

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Systems analysis of inflammatory bowel disease based on comprehensive gene information by Suzuki Satoru, Takai-Igarashi Takako, Fukuoka Yutaka, Wall Dennis P, Tanaka Hiroshi, Tonellato Peter J

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<it>SLC2A10 </it>genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. <it>SLC2A10 </it>and PAD in type 2 diabetes by Jiang Yi-Der, Chang Yi-Cheng, Chiu Yen-Feng, Chang Tien-Jyun, Li Hung-Yuan, Lin Wen-Hsing, Yuan Hsiang-Yu, Chen Yuan-Tsong, Chuang Lee-Ming

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Novel mutations of <it>TCOF1 </it>gene in European patients with treacher Collins syndrome by Rinaldi Fabrizio, D'Apice Maria, Conte Chiara, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe

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Genotyping of a tri-allelic polymorphism by a novel melting curve assay in <it>MTHFD1L</it>: an association study of nonsyndromic Cleft in Ireland by Minguzzi Stefano, Molloy Anne M, Peadar Kirke, Mills James, Scott John M, Troendle James, Pangilinan Faith, Brody Lawrence, Parle-McDermott Anne

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In-vitro characterization of novel and functional regulatory SNPs in the promoter region of <it>IL2</it> and <it>IL2R alpha</it> in a Gabonese population by Huang Xiangsheng, Kühne Vera, Kun Jürgen F J, Soboslay Peter T, Lell Bertrand, TP Velavan

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Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21 by Zigman Warren B, Silverman Wayne, Schupf Nicole, Salas Martha, Guo Meirong, Li Chi-Ming, Husain Sameera, Warburton Dorothy, Thaker Harshwardhan, Tycko Benjamin

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