Search Results - "Medical genetics"

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study by Gillis Tammy, Mysore Jayalakshmi, Djoussé Luc, Xu Gang, Prakash Ranjana, Wheeler Vanessa C, Lazzarini Alice, Ashizawa Tetsuo, Jones Randi, Paulsen Jane S, Frontali Marina, Novelletto Andrea, McCusker Elizabeth, Trent Ronald JA, Klimek Mary, Suchowersky Oksana, García Carmen, Gómez-Tortosa Estrella, Frati Luigi, Squitieri Ferdinando, Rosenblatt Adam, Margolis Russell L, Ross Christopher A, Nance Martha, Morrison Patrick J, Durr Alexandra, Warby Simon C, Hayden Michael R, Li Jian-Liang, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, Myers Richard H

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CSF Findings in Chinese Patients with NMDAR, LGI1 and GABABR Antibody-Associated Encephalitis by Qiao S, Li H, Cui C, Zhang C, Wang A, Jiang W, Zhang S

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Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE by Matsumoto Hiroyuki, Kurono Sadamu, Shenoi Jaideep, Rodgers Rosalie, Kurien Biji T, D'souza Anil, Hensley Kenneth, Nath Swapan K, Scofield R Hal

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The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies by Charpentier Guillaume, Marre Michel, Balkau Beverley, Potoczna Natascha, Horber Fritz, Choquet Hélène, Nead Kevin T, Cauchi Stéphane, Froguel Philippe, Meyre David

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Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population by Nattachet Plengvidhya, Chutima Chanprasert, Nalinee Chongjaroen, Pa-thai Yenchitsomanus, Mayuree Homsanit, Watip Tangjittipokin

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Maple syrup urine disease in Brazil: a panorama of the last two decades by Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

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CYP19A1 single nucleotide polymorphism associations with CYP19A1, NFκB1, and IL6 gene expression in human normal colon and normal liver samples by Penney RB, Lundgreen A, Yao-Borengasser A, Edavana VK, Williams S, Dhakal I, Wolff RK, Kadlubar S, Slattery ML

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The Role of Natural Extracts in the Management of Infantile Hemangiomas and Vascular Tumors by Roca IC, Cojocaru E, Rusu CD, Trandafir LM, Săveanu CI, Lupu VV, Butnariu LI, Ţarcă V, Moscalu M, Bernic J, Lupu A, Ţarcă E

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Aconselhamento genético Genetic counseling by João Monteiro de Pina-Neto

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Triple Cross-Linked Hyaluronic Acid Based on Tri-Hyal Technique Has More Durable Effect on Dermal Renewal by Chen R, Yang W, Sun J, Liu Y, An Q, Zhang F, Bai Z, Luan Q

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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasu... by N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek, E. K. Ginter, R. A. Zinchenko

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Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-s... by Giovana S. Turra, Ida Vanessa D. Schwartz

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Influence of CYP2D6, CYP3A5, ABCB1, APOE polymorphisms and nongenetic factors on donepezil treatment in patients with Alzheimer’s disease and vascular dementia by Yaowaluk T, Senanarong V, Limwongse C, Boonprasert R, Kijsanayotin P

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HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama by Barton James C, Bertoli Luigi F, Acton Ronald T

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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia by Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

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Studies of <it>CTNNBL1 </it>and <it>FDFT1 </it>variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes by Almind Katrine, Lauritzen Torsten, Sandbæk Annelli, Borch-Johnsen Knut, Mogensen Mette, Andreasen Camilla, Hansen Lars, Jørgensen Torben, Pedersen Oluf, Hansen Torben

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Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan

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Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia by Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh

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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II by Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani

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Genetic association study of <it>synphilin-1 </it>in idiopathic Parkinson's disease by Farrer Matthew J, Klungland Helge, Myhre Ronny, Aasly Jan O

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