Search Results - "Medical genetics"

A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients - Design of the Urodiag® PCR kit for surveillance of patients with non-muscl... by Jean-Pierre Roperch, Claude Hennion

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A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (<it>AMPA 2</it>, <it>... by Steinberg-Epstein Robin, Modahl Charlotte B, Hanouni Mona, Mays Lee Z, Flodman Pamela L, Woodroffe Abigail, Ramanathan Subhadra, Bocian Maureen E, Spence M Anne, Smith Moyra

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Polymorphisms of CD16A and CD32 Fcγ receptors and circulating immune complexes in Ménière's disease: a case-control study by Santos Sofía, Soto-Varela Andrés, Gonzalez-Oller Carlos, Moreno Antonia, Gazquez Irene, Saenz-Lopez Pablo, Lopez-Escamez José A, Aran Ismael, Perez-Garrigues Herminio, Ibañez Águeda, Lopez-Nevot Miguel A

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Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8 by Zhuang Yingxin, Waldrep Manda L, Schroeder Harry W

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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients by Mikael Koponen, Aki S. Havulinna, Annukka Marjamaa, Annukka M. Tuiskula, Veikko Salomaa, Päivi J. Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo, Heikki Swan

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Polymorphisms in the <it>ADRB2 </it>gene and Graves disease: a case-control study and a meta-analysis of available evidence by Zhang Kaiyue, Wang Beilan, Wang Yi, Dong Changzheng, Sun Lingling, Shen Min, Dong Yan, Chu Xun, Hua Qi, Xu Shijie, Huang Wei

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Clinical implications for substandard, nonproprietary medicines in multiple sclerosis: focus on fingolimod by Correale J, Chiquete E, Boyko A, Beran RG, Strauch JB, Milojevic S, Frider N

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UCP2 and UCP3 variants and gene-environment interaction associated with prediabetes and T2DM in a rural population: a case control study in China by Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang, Chaowei Fu

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The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives by Pinggera Gerd K, Pedrotti Sara, Gögele Martin, Fuchsberger Christian, Eisendle Agatha, Egger Clemens, De Grandi Alessandro, Dal Cero Umberta, Volpato Claudia B, Pichler Irene, Mascalzoni Deborah, Riegler Alice, Marroni Fabio, Pattaro Cristian, Stefanov Stefan A, Vogl Florian D, Wiedermann Christian J, Meitinger Thomas, Pramstaller Peter P

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Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program by Ellison R Curtis, Hunt Steven C, Wilk Jemma B, Laramie Jason M, Chakravarti Aravinda, Boerwinkle Eric, Myers Richard H

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Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene by Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey

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Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfolia... by Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak, Saleh A. Al-Obeidan

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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome by Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nuti

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Association between polymorphisms in the adiponectin gene and cardiovascular disease: a meta-analysis by Zhang Huan, Mo Xingbo, Hao Yongchen, Gu Dongfeng

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f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies by Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya, Atsushi Shimizu

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Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency by Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack, Joannah Kim, Christopher L. Sanders

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A human <it>MYBPC3</it> mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death by Teirlinck Carolien H, Senni Faïza, Malti Rajae El, Majoor-Krakauer Danielle, Fellmann Florence, Millat Gilles, André-Fouët Xavier, Pernot François, Stumpf Michaël, Boutarin Jean, Bouvagnet Patrice

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Genetic variation in interleukin-7 is associated with a reduced erythropoietic response in Kenyan children infected with Plasmodium falciparum by Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong'echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins, Evans Raballah

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A case-control analysis of common variants in GIP with type 2 diabetes and related biochemical parameters in a South Indian population by Kumar Harish, Nair Anup K, Sugunan Divya, Gopalakrishnapillai Anilkumar

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Associations between genetic variations in the FURIN gene and hypertension by Li Nanfang, Luo Wenli, Juhong Zhang, Yang Jin, Wang Hongmei, Zhou Ling, Chang Jianhang

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