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Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 184
By:
- Guo, Yiran;
- Lanktree, Matthew B.;
- Taylor, Kira C.;
- Hakonarson, Hakon;
- Lange, Leslie A.;
- Keating, Brendan J.
Publication type:
Article
A fully humanized transgenic mouse model of Huntington disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 18, doi. 10.1093/hmg/dds397
By:
- Southwell, Amber L.;
- Warby, Simon C.;
- Carroll, Jeffrey B.;
- Doty, Crystal N.;
- Skotte, Niels H.;
- Zhang, Weining;
- Villanueva, Erika B.;
- Kovalik, Vlad;
- Xie, Yuanyun;
- Pouladi, Mahmoud A.;
- Collins, Jennifer A.;
- Yang, X. William;
- Franciosi, Sonia;
- Hayden, Michael R.
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds537
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds536
Publication type:
Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
By:
- Schwarze, Ulrike;
- Cundy, Tim;
- Pyott, Shawna M.;
- Christiansen, Helena E.;
- Hegde, Madhuri R.;
- Bank, Ruud A.;
- Pals, Gerard;
- Ankala, Arunkanth;
- Conneely, Karen;
- Seaver, Laurie;
- Yandow, Suzanne M.;
- Raney, Ellen;
- Babovic-Vuksanovic, Dusica;
- Stoler, Joan;
- Ben-Neriah, Ziva;
- Segel, Reeval;
- Lieberman, Sari;
- Siderius, Liesbeth;
- Al-Aqeel, Aida;
- Hannibal, Mark
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds538
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds539
Publication type:
Article
Control of epigenetic states by WT1 via regulation of de novo DNA methyltransferase 3A.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 74, doi. 10.1093/hmg/dds403
By:
- Szemes, Marianna;
- Dallosso, Anthony R.;
- Melegh, Zsombor;
- Curry, Thomas;
- Li, Yifan;
- Rivers, Caroline;
- Uney, James;
- Mägdefrau, Ann-Sophie;
- Schwiderski, Karolin;
- Park, Ji H.;
- Brown, Keith W.;
- Shandilya, Jayasha;
- Roberts, Stefan G. E.;
- Malik, Karim
Publication type:
Article
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421
By:
- Jacobson, Samuel G.;
- Cideciyan, Artur V.;
- Peshenko, Igor V.;
- Sumaroka, Alexander;
- Olshevskaya, Elena V.;
- Cao, Lihui;
- Schwartz, Sharon B.;
- Roman, Alejandro J.;
- Olivares, Melani B.;
- Sadigh, Sam;
- Yau, King-Wai;
- Heon, Elise;
- Stone, Edwin M.;
- Dizhoor, Alexander M.
Publication type:
Article
l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 110, doi. 10.1093/hmg/dds407
By:
- Choe, Chi-un;
- Nabuurs, Christine;
- Stockebrand, Malte C.;
- Neu, Axel;
- Nunes, Patricia;
- Morellini, Fabio;
- Sauter, Kathrin;
- Schillemeit, Stefan;
- Hermans-Borgmeyer, Irm;
- Marescau, Bart;
- Heerschap, Arend;
- Isbrandt, Dirk
Publication type:
Article
Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 153, doi. 10.1093/hmg/dds415
By:
- Percival, Justin M.;
- Siegel, Michael P.;
- Knowels, Gary;
- Marcinek, David J.
Publication type:
Article
Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 140, doi. 10.1093/hmg/dds414
By:
- Carson, Robert P.;
- Fu, Cary;
- Winzenburger, Peggy;
- Ess, Kevin C.
Publication type:
Article
Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas and triggers Rac1-mediated tumour cell invasiveness.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 84, doi. 10.1093/hmg/dds405
By:
- Moniz, Sónia;
- Martinho, Olga;
- Pinto, Filipe;
- Sousa, Bárbara;
- Loureiro, Cláudia;
- Oliveira, Maria José;
- Moita, Luís Ferreira;
- Honavar, Mrinalini;
- Pinheiro, Célia;
- Pires, Manuel;
- Lopes, José Manuel;
- Jones, Chris;
- Costello, Joseph F.;
- Paredes, Joana;
- Reis, Rui Manuel;
- Jordan, Peter
Publication type:
Article
NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 61, doi. 10.1093/hmg/dds401
By:
- Louwette, Sophie;
- Régal, Luc;
- Wittevrongel, Christine;
- Thys, Chantal;
- Vandeweeghde, Gwenny;
- Decuyper, Elisa;
- Leemans, Peter;
- De Vos, Rita;
- Van Geet, Chris;
- Jaeken, Jaak;
- Freson, Kathleen
Publication type:
Article
Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 96, doi. 10.1093/hmg/dds406
By:
- Samaco, Rodney C.;
- McGraw, Christopher M.;
- Ward, Christopher S.;
- Sun, Yaling;
- Neul, Jeffrey L.;
- Zoghbi, Huda Y.
Publication type:
Article
Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 51, doi. 10.1093/hmg/dds399
By:
- Graffmo, Karin S.;
- Forsberg, Karin;
- Bergh, Johan;
- Birve, Anna;
- Zetterström, Per;
- Andersen, Peter M.;
- Marklund, Stefan L.;
- Brännström, Thomas
Publication type:
Article
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 124
By:
- Caparrós-Martín, Jose A.;
- Valencia, María;
- Reytor, Edel;
- Pacheco, María;
- Fernandez, Margarita;
- Perez-Aytes, Antonio;
- Gean, Esther;
- Lapunzina, Pablo;
- Peters, Heiko;
- Goodship, Judith A.;
- Ruiz-Perez, Victor L.
Publication type:
Article
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 35, doi. 10.1093/hmg/dds398
By:
- Alves, Celso Henrique;
- Sanz Sanz, Alicia;
- Park, Bokyung;
- Pellissier, Lucie P.;
- Tanimoto, Naoyuki;
- Beck, Susanne C.;
- Huber, Gesine;
- Murtaza, Mariyam;
- Richard, Fabrice;
- Sridevi Gurubaran, Iswariyaraja;
- Garcia Garrido, Marina;
- Levelt, Christiaan N.;
- Rashbass, Penny;
- Le Bivic, André;
- Seeliger, Mathias W.;
- Wijnholds, Jan
Publication type:
Article

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