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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
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
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
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
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
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
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
Contents Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds251
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
Editorial Board.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds257
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
Cover Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 16, p. NP, doi. 10.1093/hmg/dds254
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
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

Found: 22