Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 5

Results: 22

Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 5, p. 953, doi. 10.1093/hmg/ddp542
Publication type:: Article

Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 737, doi. 10.1093/hmg/ddp538

By:

Traherne, James A.;
Martin, Maureen;
Ward, Rosemary;
Ohashi, Maki;
Pellett, Fawnda;
Gladman, Dafna;
Middleton, Derek;
Carrington, Mary;
Trowsdale, John

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 5, p. NP, doi. 10.1093/hmg/ddq032
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 5, p. NP, doi. 10.1093/hmg/ddq034
Publication type:: Article

Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 825, doi. 10.1093/hmg/ddp551

By:

Trahan, Christian;
Martel, Caroline;
Dragon, François

Publication type:

Article

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 848, doi. 10.1093/hmg/ddp553

By:

Maass, Philipp G.;
Wirth, Jutta;
Aydin, Atakan;
Rump, Andreas;
Stricker, Sigmar;
Tinschert, Sigrid;
Otero, Miguel;
Tsuchimochi, Kaneyuki;
Goldring, Mary B.;
Luft, Friedrich C.;
Bähring, Sylvia

Publication type:

Article

FANCC suppresses short telomere-initiated telomere sister chromatid exchange.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 879, doi. 10.1093/hmg/ddp556

By:

Rhee, David B.;
Wang, Yisong;
Mizesko, Melissa;
Zhou, Fang;
Haneline, Laura;
Liu, Yie

Publication type:

Article

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 790, doi. 10.1093/hmg/ddp548

By:

Gremer, Lothar;
De Luca, Alessandro;
Merbitz-Zahradnik, Torsten;
Dallapiccola, Bruno;
Morlot, Susanne;
Tartaglia, Marco;
Kutsche, Kerstin;
Ahmadian, Mohammad Reza;
Rosenberger, Georg

Publication type:

Article

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 803, doi. 10.1093/hmg/ddp549

By:

Demars, Julie;
Shmela, Mansur Ennuri;
Rossignol, Sylvie;
Okabe, Jun;
Netchine, Irène;
Azzi, Salah;
Cabrol, Sylvie;
Le Caignec, Cédric;
David, Albert;
Le Bouc, Yves;
El-Osta, Assam;
Gicquel, Christine

Publication type:

Article

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 931, doi. 10.1093/hmg/ddp560

By:

Vitiello, Seasson Phillips;
Benedict, Jared W.;
Padilla-Lopez, Sergio;
Pearce, David A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 5, p. NP, doi. 10.1093/hmg/ddq035
Publication type:: Article

Loss of IGF2 imprinting is associated with abrogation of long-range intrachromosomal interactions in human cancer cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 901, doi. 10.1093/hmg/ddp558

By:

Vu, Thanh H.;
Nguyen, An H.;
Hoffman, Andrew R.

Publication type:

Article

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 943, doi. 10.1093/hmg/ddp537

By:

Pinheiro, Hugo;
Bordeira-Carriço, Renata;
Seixas, Susana;
Carvalho, Joana;
Senz, Janine;
Oliveira, Patrícia;
Inácio, Patrícia;
Gusmão, Leonor;
Rocha, Jorge;
Huntsman, David;
Seruca, Raquel;
Oliveira, Carla

Publication type:

Article

Population-genetic nature of copy number variations in the human genome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 761, doi. 10.1093/hmg/ddp541

By:

Kato, Mamoru;
Kawaguchi, Takahisa;
Ishikawa, Shumpei;
Umeda, Takayoshi;
Nakamichi, Reiichiro;
Shapero, Michael H.;
Jones, Keith W.;
Nakamura, Yusuke;
Aburatani, Hiroyuki;
Tsunoda, Tatsuhiko

Publication type:

Article

Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 815, doi. 10.1093/hmg/ddp550

By:

Turner, Bradley J.;
Ackerley, Steven;
Davies, Kay E.;
Talbot, Kevin

Publication type:

Article

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 888, doi. 10.1093/hmg/ddp557

By:

Jungwirth, Michael;
Dear, Mary Lynn;
Brown, Patricia;
Holbrook, Kristen;
Goodchild, Rose

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 5, p. NP, doi. 10.1093/hmg/ddq033
Publication type:: Article

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 861, doi. 10.1093/hmg/ddp555

By:

Cheli, Verónica T.;
Daniels, Richard W.;
Godoy, Ruth;
Hoyle, Diego J.;
Kandachar, Vasundhara;
Starcevic, Marta;
Martinez-Agosto, Julian A.;
Poole, Stephen;
DiAntonio, Aaron;
Lloyd, Vett K.;
Chang, Henry C.;
Krantz, David E.;
Dell'Angelica, Esteban C.

Publication type:

Article

Prdm16 is required for normal palatogenesis in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 774, doi. 10.1093/hmg/ddp543

By:

Bjork, Bryan C.;
Turbe-Doan, Annick;
Prysak, Mary;
Herron, Bruce J.;
Beier, David R.

Publication type:

Article

Comparative gene expression analysis of avian embryonic facial structures reveals new candidates for human craniofacial disorders.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 920, doi. 10.1093/hmg/ddp559

By:

Brugmann, S.A.;
Powder, K.E.;
Young, N.M.;
Goodnough, L.H.;
Hahn, S.M.;
James, A.W.;
Helms, J.A.;
Lovett, M.

Publication type:

Article

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 837, doi. 10.1093/hmg/ddp552

By:

Elrick, Matthew J.;
Pacheco, Chris D.;
Yu, Ting;
Dadgar, Nahid;
Shakkottai, Vikram G.;
Ware, Christopher;
Paulson, Henry L.;
Lieberman, Andrew P.

Publication type:

Article

The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 5, p. 752, doi. 10.1093/hmg/ddp539

By:

Di Certo, Maria Grazia;
Corbi, Nicoletta;
Strimpakos, Georgios;
Onori, Annalisa;
Luvisetto, Siro;
Severini, Cinzia;
Guglielmotti, Angelo;
Batassa, Enrico Maria;
Pisani, Cinzia;
Floridi, Aristide;
Benassi, Barbara;
Fanciulli, Maurizio;
Magrelli, Armando;
Mattei, Elisabetta;
Passananti, Claudio

Publication type:

Article