Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 20

Results: 24

A genome-wide scan for common alleles affecting risk for autism.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4072, doi. 10.1093/hmg/ddq307

By:

Anney, Richard;
Klei, Lambertus;
Pinto, Dalila;
Regan, Regina;
Conroy, Judith;
Magalhaes, Tiago R.;
Correia, Catarina;
Abrahams, Brett S.;
Sykes, Nuala;
Pagnamenta, Alistair T.;
Almeida, Joana;
Bacchelli, Elena;
Bailey, Anthony J.;
Baird, Gillian;
Battaglia, Agatino;
Berney, Tom;
Bolshakova, Nadia;
Bölte, Sven;
Bolton, Patrick F.;
Bourgeron, Thomas

Publication type:

Article

Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4043, doi. 10.1093/hmg/ddq322

By:

Chiang, Ming-Chang;
Chen, Chiung-Mei;
Lee, Maw-Rong;
Chen, Hsiao-Wen;
Chen, Hui-Mei;
Wu, Yu-Shuo;
Hung, Cheng-Han;
Kang, Jheng-Jie;
Chang, Ching-Pang;
Chang, Chen;
Wu, Yih-Ru;
Tsai, Yau-Sheng;
Chern, Yijuang

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 20, p. NP, doi. 10.1093/hmg/ddq373
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 20, p. NP, doi. 10.1093/hmg/ddq375
Publication type:: Article

Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4017, doi. 10.1093/hmg/ddq316

By:

Saus, Ester;
Soria, Virginia;
Escaramís, Geòrgia;
Vivarelli, Francesca;
Crespo, José M.;
Kagerbauer, Birgit;
Menchón, José Manuel;
Urretavizcaya, Mikel;
Gratacòs, Mònica;
Estivill, Xavier

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 20, p. NP, doi. 10.1093/hmg/ddq372
Publication type:: Article

A systematic gene-based screen of chr4q22–q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 20, p. 4121, doi. 10.1093/hmg/ddq326
Publication type:: Article

Mitochondrial myopathy induces a starvation-like response.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3948, doi. 10.1093/hmg/ddq310

By:

Tyynismaa, Henna;
Carroll, Christopher J.;
Raimundo, Nuno;
Ahola-Erkkilä, Sofia;
Wenz, Tina;
Ruhanen, Heini;
Guse, Kilian;
Hemminki, Akseli;
Peltola-Mjøsund, Katja E.;
Tulkki, Valtteri;
Orešič, Matej;
Moraes, Carlos T.;
Pietiläinen, Kirsi;
Hovatta, Iiris;
Suomalainen, Anu

Publication type:

Article

Expression of Huntington's disease protein results in apoptotic neurons in the brains of cloned transgenic pigs.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3983, doi. 10.1093/hmg/ddq313

By:

Yang, Dongshan;
Wang, Chuan-En;
Zhao, Bentian;
Li, Wei;
Ouyang, Zhen;
Liu, Zhaoming;
Yang, Huaqiang;
Fan, Pei;
O'Neill, Ashley;
Gu, Weiwang;
Yi, Hong;
Li, Shihua;
Lai, Liangxue;
Li, Xiao-Jiang

Publication type:

Article

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3906, doi. 10.1093/hmg/ddq330

By:

Heier, Christopher R.;
Satta, Rosalba;
Lutz, Cathleen;
DiDonato, Christine J.

Publication type:

Article

A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4083, doi. 10.1093/hmg/ddq309

By:

Chakrabarti, Subhabrata;
Ghanekar, Yashoda;
Kaur, Kiranpreet;
Kaur, Inderjeet;
Mandal, Anil K.;
Rao, Kollu N.;
Parikh, Rajul S.;
Thomas, Ravi;
Majumder, Partha P.

Publication type:

Article

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3995, doi. 10.1093/hmg/ddq314

By:

Chan, Yiumo Michael;
Keramaris-Vrantsis, Elizabeth;
Lidov, Hart G.;
Norton, James H.;
Zinchenko, Natalia;
Gruber, Helen E.;
Thresher, Randy;
Blake, Derek J.;
Ashar, Jignya;
Rosenfeld, Jeffrey;
Lu, Qi L.

Publication type:

Article

Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3919, doi. 10.1093/hmg/ddq306

By:

Kim, Jinho;
Moody, Jennifer P.;
Edgerly, Christina K.;
Bordiuk, Olivia L.;
Cormier, Kerry;
Smith, Karen;
Beal, M. Flint;
Ferrante, Robert J.

Publication type:

Article

Centromere protein A dynamics in human pluripotent stem cell self-renewal, differentiation and DNA damage.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3970, doi. 10.1093/hmg/ddq312

By:

Ambartsumyan, Gayane;
Gill, Rajbir K.;
Perez, Silvia Diaz;
Conway, Deirdre;
Vincent, John;
Dalal, Yamini;
Clark, Amander T.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 20, p. NP, doi. 10.1093/hmg/ddq374
Publication type:: Article

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4007, doi. 10.1093/hmg/ddq315

By:

Granados-Riveron, Javier T.;
Ghosh, Tushar K.;
Pope, Mark;
Bu'Lock, Frances;
Thornborough, Christopher;
Eason, Jacqueline;
Kirk, Edwin P.;
Fatkin, Diane;
Feneley, Michael P.;
Harvey, Richard P.;
Armour, John A.L.;
David Brook, J.

Publication type:

Article

Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3936, doi. 10.1093/hmg/ddq308

By:

Smith, Andrew J.P.;
Palmen, Jutta;
Putt, Wendy;
Talmud, Philippa J.;
Humphries, Steve E.;
Drenos, Fotios

Publication type:

Article

Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4112, doi. 10.1093/hmg/ddq327

By:

Bowden, Donald W.;
An, S. Sandy;
Palmer, Nicholette D.;
Brown, W. Mark;
Norris, Jill M.;
Haffner, Stephen M.;
Hawkins, Gregory A.;
Guo, Xiuqing;
Rotter, Jerome I.;
Chen, Y.-D. Ida;
Wagenknecht, Lynne E.;
Langefeld, Carl D.

Publication type:

Article

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3895, doi. 10.1093/hmg/ddq300

By:

Bevan, Adam K.;
Hutchinson, Kirk R.;
Foust, Kevin D.;
Braun, Lyndsey;
McGovern, Vicki L.;
Schmelzer, Leah;
Ward, Jennifer G.;
Petruska, Jeffrey C.;
Lucchesi, Pamela A.;
Burghes, Arthur H.M.;
Kaspar, Brian K.

Publication type:

Article

Cardiac defects contribute to the pathology of spinal muscular atrophy models.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4059, doi. 10.1093/hmg/ddq329

By:

Shababi, Monir;
Habibi, Javad;
Yang, Hsiao T.;
Vale, Spencer M.;
Sewell, Will A.;
Lorson, Christian L.

Publication type:

Article

Sarcoidosis HLA class II genotyping distinguishes differences of clinical phenotype across ethnic groups.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4100, doi. 10.1093/hmg/ddq325

By:

Sato, Hiroe;
Woodhead, Felix A.;
Ahmad, Tariq;
Grutters, Jan C.;
Spagnolo, Paolo;
van den Bosch, Jules M.M.;
Maier, Lisa A.;
Newman, Lee S.;
Nagai, Sonoko;
Izumi, Takateru;
Wells, Athol U.;
du Bois, Roland M.;
Welsh, Kenneth I.

Publication type:

Article

Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3959

By:

Hébert, Sébastien S.;
Papadopoulou, Aikaterini S.;
Smith, Pascal;
Galas, Marie-Christine;
Planel, Emmanuel;
Silahtaroglu, Asli N.;
Sergeant, Nicolas;
Buée, Luc;
De Strooper, Bart

Publication type:

Article

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4091, doi. 10.1093/hmg/ddq323

By:

Blauw, Hylke M.;
Al-Chalabi, Ammar;
Andersen, Peter M.;
van Vught, Paul W.J.;
Diekstra, Frank P.;
van Es, Michael A.;
Saris, Christiaan G.J.;
Groen, Ewout J.N.;
van Rheenen, Wouter;
Koppers, Max;
van't Slot, Ruben;
Strengman, Eric;
Estrada, Karol;
Rivadeneira, Fernando;
Hofman, Albert;
Uitterlinden, Andre G.;
Kiemeney, Lambertus A.;
Vermeulen, Sita H.M.;
Birve, Anna;
Waibel, Stefan

Publication type:

Article

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 4026, doi. 10.1093/hmg/ddq317

By:

Burns, Brooke;
Schmidt, Kristie;
Williams, Stephen R.;
Kim, Sun;
Girirajan, Santhosh;
Elsea, Sarah H.

Publication type:

Article