Search Results - "Medical genetics"

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates by Folstein Susan E, Gainer Kimberly, Crockett Genea, Olson Lana M, Jiang Lan, Li Chun, McCauley Jacob L, Haines Jonathan L, Sutcliffe James S

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<it>CYP2C19 </it>and <it>ABCB1 </it>gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population by Mill José G, Nicolau José C, Coelho George LLM, Nascimento Raimundo M, Santos Diogo BG, Soares Renata AG, Santos Paulo CJL, Krieger José E, Pereira Alexandre C

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Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents by Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene, Vaiva Lesauskaite

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KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment by Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang, Tianhua Niu

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Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder by Mayor-Olea Alvaro, Aguado Lidia, Perez-Nevot Beatriz, Palomares Arturo R, Lendinez Ana M, Aneiros-Guerrero Angel, Ruiz-Galdon Maximiliano, Reyes-Engel Armando

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Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19 by Ferrell Robert E, Sakalihasan Natzi, Igo Robert P, Lu Qing, Li Ming, Lenk Guy M, Tromp Gerard, Kyo Yoshiki, Lillvis John H, Schworer Charles M, Gatalica Zoran, Land Susan, Kuivaniemi Helena

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Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study by José Inácio Salles, Lucas Rafael Lopes, Maria Eugenia Leite Duarte, Dylan Morrissey, Marilena Bezerra Martins, Daniel Escorsim Machado, João Antonio Matheus Guimarães, Jamila Alessandra Perini

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Common polymorphisms within the <it>NR4A3 </it>locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced β-cell function in non-diabetic subjects by Kuusisto Johanna, Machicao Fausto, Stefan Norbert, Gallwitz Baptist, Ranta Felicia, Ullrich Susanne, Kirchhoff Kerstin, Schäfer Silke A, Stančáková Alena, Staiger Harald, Weyrich Peter, Laakso Markku, Fritsche Andreas, Häring Hans-Ulrich

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Human <it>PTCHD3 </it>nulls: rare copy number and sequence variants suggest a non-essential gene by Lionel Anath C, Moessner Rainald, Lee-Ng Ka Ki M, Kwan Benjamin YM, Ghahramani Seno Mohammad M, Marshall Christian R, Scherer Stephen W

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Serotonin receptor 3A polymorphism c.-42C > T is associated with severe dyspepsia by Grobbee Diederick E, Muris Jean WM, Laheij Robert JF, Onland-Moret N Charlotte, Fransen Gerdine AJ, van Marrewijk Corine J, de Wit Niek J, ter Linde José JM, Mujakovic Suhreta, Samsom Melvin, Jansen Jan BMJ, Knottnerus André, Numans Mattijs E

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Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis by Jacob Sode, Steffen Bank, Ulla Vogel, Paal Skytt Andersen, Signe Bek Sørensen, Anders Bo Bojesen, Malene Rohr Andersen, Ivan Brandslund, Ram Benny Dessau, Hans Jürgen Hoffmann, Bente Glintborg, Merete Lund Hetland, Henning Locht, Niels Henrik Heegaard, Vibeke Andersen

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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report by Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

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Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians by Gupta Arvind, Ammini AC, Kumar KM Prasanna, Tiwari Arun K, Prasad Pushplata, Gupta Rajeev, Thelma BK

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High frequency of the IVS2-2A>G DNA sequence variation in <it>SLC26A5</it>, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss by Pereira Fred A, Oghalai John S, Xia Anping, Tang Hsiao-Yuan, Alford Raye L

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Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN) by Wooding Stephen P, Atanasova Srebrena, Gunn Howard C, Staneva Rada, Dimova Invanka, Toncheva Draga

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Mechanisms of ring chromosome formation, ring instability and clinical consequences by Guilherme Roberta S, Ayres Meloni Vera F, Kim Chong A, Pellegrino Renata, Takeno Sylvia S, Spinner Nancy B, Conlin Laura K, Christofolini Denise M, Kulikowski Leslie D, Melaragno Maria I

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Association of PNPLA3 rs738409 G/C gene polymorphism with nonalcoholic fatty liver disease in children: a meta-analysis by Shan Tang, Jing Zhang, Ting Ting Mei, Hai Qing Guo, Xin Huan Wei, Wen Yan Zhang, Ya Li Liu, Shan Liang, Zuo Peng Fan, Li Xia Ma, Wei Lin, Yi Rong Liu, Li Xia Qiu, Hai Bin Yu

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Analysis of common <it>PTPN1 </it>gene variants in type 2 diabetes, obesity and associated phenotypes in the French population by Marre Michel, Balkau Beverley, Charpentier Guillaume, Bibi Amina, Dechaume Aurélie, Lecoeur Cécile, Cheyssac Claire, Froguel Philippe, Gibson Fernando, Vaxillaire Martine

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Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders by Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov, Ludmila Savinkova

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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters by Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson

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