Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 20

Results: 22

Noggin null allele mice exhibit a microform of holoprosencephaly.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4005, doi. 10.1093/hmg/ddr329

By:

Lana-Elola, Eva;
Tylzanowski, Przemko;
Takatalo, Maarit;
Alakurtti, Kirsi;
Veistinen, Lotta;
Mitsiadis, Thimios A.;
Graf, Daniel;
Rice, Ritva;
Luyten, Frank P.;
Rice, David P.

Publication type:

Article

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3974, doi. 10.1093/hmg/ddr324

By:

Burnichon, Nelly;
Vescovo, Laure;
Amar, Laurence;
Libé, Rossella;
de Reynies, Aurélien;
Venisse, Annabelle;
Jouanno, Elodie;
Laurendeau, Ingrid;
Parfait, Béatrice;
Bertherat, Jérôme;
Plouin, Pierre-François;
Jeunemaitre, Xavier;
Favier, Judith;
Gimenez-Roqueplo, Anne-Paule

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr412
Publication type:: Article

Adult height variants affect birth length and growth rate in children.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4069, doi. 10.1093/hmg/ddr309

By:

Paternoster, Lavinia;
Howe, Laura D.;
Tilling, Kate;
Weedon, Michael N.;
Freathy, Rachel M.;
Frayling, Timothy M.;
Kemp, John P.;
Smith, George Davey;
Timpson, Nicholas J.;
Ring, Susan M.;
Evans, David M.;
Lawlor, Debbie A.

Publication type:

Article

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3925, doi. 10.1093/hmg/ddr311

By:

Kudryashova, Elena;
Struyk, Arie;
Mokhonova, Ekaterina;
Cannon, Stephen C.;
Spencer, Melissa J.

Publication type:

Article

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3910, doi. 10.1093/hmg/ddr310

By:

Wang, Weixi;
Nyman, Jeffry S.;
Ono, Koichiro;
Stevenson, David A.;
Yang, Xiangli;
Elefteriou, Florent

Publication type:

Article

The Sirtuin 2 microtubule deacetylase is an abundant neuronal protein that accumulates in the aging CNS.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3986, doi. 10.1093/hmg/ddr326

By:

Maxwell, Michele M.;
Tomkinson, Elizabeth M.;
Nobles, Johnathan;
Wizeman, John W.;
Amore, Allison M.;
Quinti, Luisa;
Chopra, Vanita;
Hersch, Steven M.;
Kazantsev, Aleksey G.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr410
Publication type:: Article

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4082, doi. 10.1093/hmg/ddr328

By:

Wood, Andrew R.;
Hernandez, Dena G.;
Nalls, Michael A.;
Yaghootkar, Hanieh;
Gibbs, J. Raphael;
Harries, Lorna W.;
Chong, Sean;
Moore, Matthew;
Weedon, Michael N.;
Guralnik, Jack M.;
Bandinelli, Stefania;
Murray, Anna;
Ferrucci, Luigi;
Singleton, Andrew B;
Melzer, David;
Frayling, Timothy M.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr413
Publication type:: Article

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3943, doi. 10.1093/hmg/ddr313

By:

Alvarado, David M.;
McCall, Kevin;
Aferol, Hyuliya;
Silva, Matthew J.;
Garbow, Joel R.;
Spees, William M.;
Patel, Tarpit;
Siegel, Marilyn;
Dobbs, Matthew B.;
Gurnett, Christina A.

Publication type:

Article

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3899, doi. 10.1093/hmg/ddr308

By:

Singaraja, Roshni R.;
Huang, Kun;
Sanders, Shaun S.;
Milnerwood, Austen J.;
Hines, Rochelle;
Lerch, Jason P.;
Franciosi, Sonia;
Drisdel, Renaldo C.;
Vaid, Kuljeet;
Young, Fiona B.;
Doty, Crystal;
Wan, Junmei;
Bissada, Nagat;
Henkelman, R. Mark;
Green, William N.;
Davis, Nicholas G.;
Raymond, Lynn A.;
Hayden, Michael R.

Publication type:

Article

Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3933, doi. 10.1093/hmg/ddr312

By:

Liu, Zhaohui;
Hamamichi, Shusei;
Dae Lee, Byoung;
Yang, Dejun;
Ray, Arpita;
Caldwell, Guy A.;
Caldwell, Kim A.;
Dawson, Ted M.;
Smith, Wanli W.;
Dawson, Valina L.

Publication type:

Article

Novel mechanism of Hsp70 chaperone-mediated prevention of polyglutamine aggregates in a cellular model of huntington disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3953, doi. 10.1093/hmg/ddr314

By:

Guzhova, Irina V.;
Lazarev, Vladimir F.;
Kaznacheeva, Anastasia V.;
Ippolitova, Maria V.;
Muronetz, Vladimir I.;
Kinev, Alexander V.;
Margulis, Boris A.

Publication type:

Article

Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4025, doi. 10.1093/hmg/ddr331

By:

Joyce, Cailin E.;
Zhou, Xiang;
Xia, Jing;
Ryan, Caitriona;
Thrash, Breck;
Menter, Alan;
Zhang, Weixiong;
Bowcock, Anne M.

Publication type:

Article

The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3997, doi. 10.1093/hmg/ddr327

By:

Richards, Shane A.;
Muter, Joanne;
Ritchie, Pamela;
Lattanzi, Giovanna;
Hutchison, Christopher J.

Publication type:

Article

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4041, doi. 10.1093/hmg/ddr332

By:

Bachmann-Gagescu, Ruxandra;
Phelps, Ian G.;
Stearns, George;
Link, Brian A.;
Brockerhoff, Susan E.;
Moens, Cecilia B.;
Doherty, Dan

Publication type:

Article

Common variants at VRK2 and TCF4 conferring risk of schizophrenia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4076, doi. 10.1093/hmg/ddr325

By:

Steinberg, Stacy;
de Jong, Simone;
Andreassen, Ole A.;
Werge, Thomas;
Børglum, Anders D.;
Mors, Ole;
Mortensen, Preben B.;
Gustafsson, Omar;
Costas, Javier;
Pietiläinen, Olli P. H.;
Demontis, Ditte;
Papiol, Sergi;
Huttenlocher, Johanna;
Mattheisen, Manuel;
Breuer, René;
Vassos, Evangelos;
Giegling, Ina;
Fraser, Gillian;
Walker, Nicholas;
Tuulio-Henriksson, Annamari

Publication type:

Article

Allele-specific distribution of RNA polymerase II on female X chromosomes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 3964, doi. 10.1093/hmg/ddr315

By:

Kucera, Katerina S.;
Reddy, Timothy E.;
Pauli, Florencia;
Gertz, Jason;
Logan, Jenae E.;
Myers, Richard M.;
Willard, Huntington F.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr411
Publication type:: Article

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4056, doi. 10.1093/hmg/ddr307

By:

Tin, Adrienne;
Woodward, Owen M.;
Kao, Wen Hong Linda;
Liu, Ching-Ti;
Lu, Xiaoning;
Nalls, Michael A.;
Shriner, Daniel;
Semmo, Mariam;
Akylbekova, Ermeg L.;
Wyatt, Sharon B.;
Hwang, Shih-Jen;
Yang, Qiong;
Zonderman, Alan B.;
Adeyemo, Adebowale A.;
Palmer, Cameron;
Meng, Yan;
Reilly, Muredach;
Shlipak, Michael G.;
Siscovick, David;
Evans, Michele K.

Publication type:

Article

MicroRNA-132 loss is associated with tau exon 10 inclusion in progressive supranuclear palsy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4016, doi. 10.1093/hmg/ddr330

By:

Smith, Pascal Y.;
Delay, Charlotte;
Girard, Johanne;
Papon, Marie-Amélie;
Planel, Emmanuel;
Sergeant, Nicolas;
Buée, Luc;
Hébert, Sébastien S.

Publication type:

Article