Search Results - "Medical Genetics"

A study of 82 extended HLA haplotypes in <it>HFE</it>-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of ir... by Lacerda Rosa, Almeida Susana, Vieira Jorge, Cruz Eugénia, Gartner Andrea, Cardoso Carla S, Alves Helena, Porto Graça

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Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1 by Melmed Raun, Schneider Cindy, Trillo Simona, Bravaccio Carmela, Militerni Roberto, Moessner Rainald, Rousseau Francis, Hager Jorg, Papaleo Veruska, Sacco Roberto, Elia Maurizio, Curatolo Paolo, Manzi Barbara, Pascucci Tiziana, Puglisi-Allegra Stefano, Reichelt Karl-Ludvig, Persico Antonio M

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The impact of CFNS-causing <it>EFNB1 </it>mutations on ephrin-B1 function by Wieacker Peter, Tasic Velibor, Gucev Zoran, Steiner Bernhard, Makarov Roman, Wieland Ilse

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Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis by Gemmati Donato, Zeri Giulia, Orioli Elisa, De Gaetano Francesca E, Salvi Fabrizio, Bartolomei Ilaria, D'Alfonso Sandra, Dall'Osso Claudia, Leone Maurizio A, Singh Ajay V, Asselta Rosanna, Zamboni Paolo

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Cost-Utility Analysis of Molecular Testing for Tuberculosis Diagnosis in Suspected Pulmonary Tuberculosis in Thailand by Chitpim N, Jittikoon J, Udomsinprasert W, Mahasirimongkol S, Chaikledkaew U

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Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira G-6-PD deficiency in a Brazilian community: an investigation involving e... by Mariane B. Compri, Sara T. O. Saad, Antonio Sérgio Ramalho

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Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with <it>... by García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes

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Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results by N.A. Semenova, G.V. Baydakova, N.V. Nikitina, V.K. Podolina, E.Yu. Belyashova, V.N. Kuznetsova, E.M. Kochegurova, L.P. Andreeva, O.N. Khaylova, S.I. Kutsev

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Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1 by Zimmermann A, Popp RA, Rossmann H, Bucerzan S, Nascu I, Leucuta D, Weber MM, Grigorescu-Sido P

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Serum uric acid distribution according to <it>SLC22A12 </it>W258X genotype in a cross-sectional study of a general Japanese population by Okada Rieko, Hishida Asahi, Naito Mariko, Hamajima Nobuyuki, Asai Yatami, Wakai Kenji

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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations by Dezhai Yang, Weixiong Lin, Yong Wang, Guangqin Chen, Ruixing Yin, Shangling Pan

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Novel deletion alleles carrying <it>CYP21A1P</it>/<it>A2 </it>chimeric genes in Brazilian patients with 21-hydroxylase deficiency by Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P

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The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China by Lindpaintner Klaus, Hou Dongqing, Cheng Hong, Wu Lijun, Zhao Xiaoyuan, Liu Xin, Zhang Meixian, Shen Yue, Xi Bo, Liu Lisheng, Mi Jie, Wang Xingyu

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Genetic Polymorphism of Drug Metabolic Gene CYPs, VKORC1, NAT2, DPYD and CHST3 of Five Ethnic Minorities in Heilongjiang Province, Northeast China by Zhang T, Li Q, Dong B, Liang X, Jia M, Bai J, Yu J, Fu S

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Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide associati... by Jonaitis Laimas, Vogel Ulla, Krarup Henrik B, Jacobsen Bent A, Kupcinskas Limas, Sventoraityte Jurgita, Ernst Anja, Andersen Vibeke, Denapiene Goda, Kiudelis Gediminas, Balschun Tobias, Franke Andre

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Evidence of association with type 1 diabetes in the SLC11A1 gene region by Walker Neil M, Stevens Helen E, Nutland Sarah, Howson Joanna MM, Downes Kate, Yang Jennie HM, Todd John A

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Association between <it>TCF7L2 </it>gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis by Liu Hengchuan, Zhang Yawei, Zhang Yuan, Yang Jiyun, Lin Ying, Tong Yu, Zhang Ben

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Association of genetic variants in the promoter region of genes encoding p22phox (<it>CYBA</it>) and glutamate cysteine ligase catalytic subunit (<it>GCLC</it>) and renal disease i... by Pavin Elizabeth J, Parisi Maria C, Canani Luis H, Azevedo Mirela J, Vendramini Márcio F, Dib Sérgio A, Queiroz Márcia, Nery Márcia, Fortes Maria A, Luna Ana M, Marques Tatiana, Monteiro Maria B, Vieira Suzana M, Giannella-Neto Daniel, Corrêa-Giannella Maria L

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Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria by Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile, Fernando Ferreira Costa

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Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis by Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen, Annika Rydberg

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