Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 16

Results: 22

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3727, doi. 10.1093/hmg/dds187

By:

El-Sayed Moustafa, Julia S.;
Eleftherohorinou, Hariklia;
de Smith, Adam J.;
Andersson-Assarsson, Johanna C.;
Couto Alves, Alexessander;
Hadjigeorgiou, Eleni;
Walters, Robin G.;
Asher, Julian E.;
Bottolo, Leonardo;
Buxton, Jessica L.;
Sladek, Rob;
Meyre, David;
Dina, Christian;
Visvikis-Siest, Sophie;
Jacobson, Peter;
Sjöström, Lars;
Carlsson, Lena M.S.;
Walley, Andrew;
Falchi, Mario;
Froguel, Philippe

Publication type:

Article

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3568, doi. 10.1093/hmg/dds188

By:

Synofzik, Matthis;
Ronchi, Dario;
Keskin, Isil;
Basak, Ayse N.;
Wilhelm, Christian;
Gobbi, Claudio;
Birve, Anna;
Biskup, Saskia;
Zecca, Chiara;
Fernández-Santiago, Rubén;
Kaugesaar, Toomas;
Schöls, Ludger;
Marklund, Stefan L.;
Andersen, Peter M.

Publication type:

Article

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3558, doi. 10.1093/hmg/dds185

By:

Morales, Fernando;
Couto, Jillian M.;
Higham, Catherine F.;
Hogg, Grant;
Cuenca, Patricia;
Braida, Claudia;
Wilson, Richard H.;
Adam, Berit;
del Valle, Gerardo;
Brian, Roberto;
Sittenfeld, Mauricio;
Ashizawa, Tetsuo;
Wilcox, Alison;
Wilcox, Douglas E.;
Monckton, Darren G.

Publication type:

Article

Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3632, doi. 10.1093/hmg/dds193

By:

Cluzeau, Celine V.M.;
Watkins-Chow, Dawn E.;
Fu, Rao;
Borate, Bhavesh;
Yanjanin, Nicole;
Dail, Michelle K.;
Davidson, Cristin D.;
Walkley, Steven U.;
Ory, Daniel S.;
Wassif, Christopher A.;
Pavan, William J.;
Porter, Forbes D.

Publication type:

Article

Identification of cis-regulatory variation influencing protein abundance levels in human plasma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3719

By:

Lourdusamy, Anbarasu;
Newhouse, Stephan;
Lunnon, Katie;
Proitsi, Petra;
Powell, John;
Hodges, Angela;
Nelson, Sally K.;
Stewart, Alex;
Williams, Stephen;
Kloszewska, Iwona;
Mecocci, Patrizia;
Soininen, Hilkka;
Tsolaki, Magda;
Vellas, Bruno;
Lovestone, Simon;
Dobson, Richard

Publication type:

Article

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194

By:

Webb, Tom R.;
Parfitt, David A.;
Gardner, Jessica C.;
Martinez, Ariadna;
Bevilacqua, Dalila;
Davidson, Alice E.;
Zito, Ilaria;
Thiselton, Dawn L.;
Ressa, Jacob H.C.;
Apergi, Marina;
Schwarz, Nele;
Kanuga, Naheed;
Michaelides, Michel;
Cheetham, Michael E.;
Gorin, Michael B.;
Hardcastle, Alison J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds251
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds257
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds260
Publication type:: Article

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3681, doi. 10.1093/hmg/dds197

By:

Prasov, Lev;
Masud, Tehmina;
Khaliq, Shagufta;
Mehdi, S. Qasim;
Abid, Aiysha;
Oliver, Edward R.;
Silva, Eduardo D.;
Lewanda, Amy;
Brodsky, Michael C.;
Borchert, Mark;
Kelberman, Daniel;
Sowden, Jane C.;
Dattani, Mehul T.;
Glaser, Tom

Publication type:

Article

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3535, doi. 10.1093/hmg/dds183

By:

Thiele, Frank;
Cohrs, Christian M.;
Flor, Armando;
Lisse, Thomas S.;
Przemeck, Gerhard K. H.;
Horsch, Marion;
Schrewe, Anja;
Gailus-Durner, Valerie;
Ivandic, Boris;
Katus, Hugo A.;
Wurst, Wolfgang;
Reisenberg, Catherine;
Chaney, Hollis;
Fuchs, Helmut;
Hans, Wolfgang;
Beckers, Johannes;
Marini, Joan C.;
Hrabé de Angelis, Martin

Publication type:

Article

Inhibition of tau aggregation in a novel Caenorhabditis elegans model of tauopathy mitigates proteotoxicity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3587, doi. 10.1093/hmg/dds190

By:

Fatouros, Chronis;
Pir, Ghulam Jeelani;
Biernat, Jacek;
Koushika, Sandhya Padmanabhan;
Mandelkow, Eckhard;
Mandelkow, Eva-Maria;
Schmidt, Enrico;
Baumeister, Ralf

Publication type:

Article

A rat model for LGI1-related epilepsies.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3546, doi. 10.1093/hmg/dds184

By:

Baulac, Stéphanie;
Ishida, Saeko;
Mashimo, Tomoji;
Boillot, Morgane;
Fumoto, Naohiro;
Kuwamura, Mitsuru;
Ohno, Yukihiro;
Takizawa, Akiko;
Aoto, Toshihiro;
Ueda, Masatsugu;
Ikeda, Akio;
LeGuern, Eric;
Takahashi, Ryosuke;
Serikawa, Tadao

Publication type:

Article

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3703, doi. 10.1093/hmg/dds205

By:

Fallini, Claudia;
Bassell, Gary J.;
Rossoll, Wilfried

Publication type:

Article

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3525, doi. 10.1093/hmg/dds179

By:

Ferguson, C. J.;
Lenk, G. M.;
Jones, J. M.;
Grant, A. E.;
Winters, J. J.;
Dowling, J. J.;
Giger, R. J.;
Meisler, Miriam H.

Publication type:

Article

Human fetal skeletal muscle contains a myogenic side population that expresses the melanoma cell-adhesion molecule.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3668, doi. 10.1093/hmg/dds196

By:

Lapan, Ariya D.;
Rozkalne, Anete;
Gussoni, Emanuela

Publication type:

Article

Role of Nav1.9 in activity-dependent axon growth in motoneurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3655, doi. 10.1093/hmg/dds195

By:

Subramanian, Narayan;
Wetzel, Andrea;
Dombert, Benjamin;
Yadav, Preeti;
Havlicek, Steven;
Jablonka, Sibylle;
Nassar, Mohammed A.;
Blum, Robert;
Sendtner, Michael

Publication type:

Article

Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3604

By:

Renvoisé, Benoît;
Stadler, Julia;
Singh, Rajat;
Bakowska, Joanna C.;
Blackstone, Craig

Publication type:

Article

Epigenetic markers of prostate cancer in plasma circulating DNA.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3619, doi. 10.1093/hmg/dds192

By:

Cortese, Rene;
Kwan, Andrew;
Lalonde, Emilie;
Bryzgunova, Olga;
Bondar, Anna;
Wu, Ying;
Gordevicius, Juozas;
Park, Mina;
Oh, Gabriel;
Kaminsky, Zachary;
Tverkuviene, Justina;
Laurinavicius, Arvydas;
Jankevicius, Feliksas;
Sendorek, Dorota H.S.;
Haider, Syed;
Wang, Sun-Chong;
Jarmalaite, Sonata;
Laktionov, Pavel;
Boutros, Paul C.;
Petronis, Arturas

Publication type:

Article

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3695, doi. 10.1093/hmg/dds200

By:

ElInati, Elias;
Kuentz, Paul;
Redin, Claire;
Jaber, Sara;
Vanden Meerschaut, Frauke;
Makarian, Joelle;
Koscinski, Isabelle;
Nasr-Esfahani, Mohammad H.;
Demirol, Aygul;
Gurgan, Timur;
Louanjli, Noureddine;
Iqbal, Naeem;
Bisharah, Mazen;
Pigeon, Frédérique Carré;
Gourabi, H.;
De Briel, Dominique;
Brugnon, Florence;
Gitlin, Susan A.;
Grillo, Jean-Marc;
Ghaedi, Kamran

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds254
Publication type:: Article

Vitamin D receptor binding, chromatin states and association with multiple sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3575, doi. 10.1093/hmg/dds189

By:

Disanto, Giulio;
Sandve, Geir Kjetil;
Berlanga-Taylor, Antonio J.;
Ragnedda, Giammario;
Morahan, Julia M.;
Watson, Corey T.;
Giovannoni, Gavin;
Ebers, George C.;
Ramagopalan, Sreeram V.

Publication type:

Article