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A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Māori, case and control sample sets.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4813, doi. 10.1093/hmg/ddq412
By:
- Phipps-Green, Amanda J.;
- Hollis-Moffatt, Jade E.;
- Dalbeth, Nicola;
- Merriman, Marilyn E.;
- Topless, Ruth;
- Gow, Peter J.;
- Harrison, Andrew A.;
- Highton, John;
- Jones, Peter B.B.;
- Stamp, Lisa K.;
- Merriman, Tony R.
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq485
Publication type:
Article
Ablation of the Sam68 gene impairs female fertility and gonadotropin-dependent follicle development.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4886, doi. 10.1093/hmg/ddq422
By:
- Bianchi, Enrica;
- Barbagallo, Federica;
- Valeri, Claudia;
- Geremia, Raffaele;
- Salustri, Antonietta;
- De Felici, Massimo;
- Sette, Claudio
Publication type:
Article
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4759, doi. 10.1093/hmg/ddq402
By:
- Schütz, Melanie;
- Scimemi, Pietro;
- Majumder, Paromita;
- De Siati, Romolo Daniele;
- Crispino, Giulia;
- Rodriguez, Laura;
- Bortolozzi, Mario;
- Santarelli, Rosamaria;
- Seydel, Anke;
- Sonntag, Stephan;
- Ingham, Neil;
- Steel, Karen P.;
- Willecke, Klaus;
- Mammano, Fabio
Publication type:
Article
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4799, doi. 10.1093/hmg/ddq410
By:
- Chakraborty, Dibyendu;
- Conley, Shannon M.;
- Stuck, Michael W.;
- Naash, Muna I.
Publication type:
Article
A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4948, doi. 10.1093/hmg/ddq421
By:
- Yoon, Kyong-Ah;
- Park, Jae Hee;
- Han, Jihye;
- Park, Sohee;
- Lee, Geon Kook;
- Han, Ji-Youn;
- Zo, Jae Ill;
- Kim, Jeongseon;
- Lee, Jong Eun;
- Takahashi, Atsushi;
- Kubo, Michiaki;
- Nakamura, Yusuke;
- Lee, Jin Soo
Publication type:
Article
Genetic determinants of HSP70 gene expression following heat shock.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4939, doi. 10.1093/hmg/ddq418
By:
- Maugeri, Narelle;
- Radhakrishnan, Jayachandran;
- Knight, Julian C.
Publication type:
Article
Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4790, doi. 10.1093/hmg/ddq409
By:
- Nistala, Harikiran;
- Lee-Arteaga, Sui;
- Carta, Luca;
- Cook, Jason R.;
- Smaldone, Silvia;
- Siciliano, Gabriella;
- Rifkin, Aaron N.;
- Dietz, Harry C.;
- Rifkin, Daniel B.;
- Ramirez, Francesco
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq489
Publication type:
Article
An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4774, doi. 10.1093/hmg/ddq408
By:
- Prudencio, Mercedes;
- Durazo, Armando;
- Whitelegge, Julian P.;
- Borchelt, David R.
Publication type:
Article
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4930, doi. 10.1093/hmg/ddq411
By:
- Aldhous, Marian C.;
- Abu Bakar, Suhaili;
- Prescott, Natalie J.;
- Palla, Raquel;
- Soo, Kimberley;
- Mansfield, John C.;
- Mathew, Christopher G.;
- Satsangi, Jack;
- Armour, John A.L.
Publication type:
Article
Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1–ADIPOQ.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4955, doi. 10.1093/hmg/ddq423
By:
- Wu, Ying;
- Li, Yun;
- Lange, Ethan M.;
- Croteau-Chonka, Damien C.;
- Kuzawa, Christopher W.;
- McDade, Thomas W.;
- Qin, Li;
- Curocichin, Ghenadie;
- Borja, Judith B.;
- Lange, Leslie A.;
- Adair, Linda S.;
- Mohlke, Karen L.
Publication type:
Article
Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4918, doi. 10.1093/hmg/ddq426
By:
- Airik, Rannar;
- Trowe, Mark-Oliver;
- Foik, Anna;
- Farin, Henner F.;
- Petry, Marianne;
- Schuster-Gossler, Karin;
- Schweizer, Michaela;
- Scherer, Gerd;
- Kist, Ralf;
- Kispert, Andreas
Publication type:
Article
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4837, doi. 10.1093/hmg/ddq414
By:
- Fassone, Elisa;
- Duncan, Andrew J.;
- Taanman, Jan-Willem;
- Pagnamenta, Alistair T.;
- Sadowski, Michael I.;
- Holand, Tatjana;
- Qasim, Waseem;
- Rutland, Paul;
- Calvo, Sarah E.;
- Mootha, Vamsi K.;
- Bitner-Glindzicz, Maria;
- Rahman, Shamima
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq483
Publication type:
Article
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4895, doi. 10.1093/hmg/ddq424
By:
- Schaller, Fabienne;
- Watrin, Françoise;
- Sturny, Rachel;
- Massacrier, Annick;
- Szepetowski, Pierre;
- Muscatelli, Françoise
Publication type:
Article
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4861, doi. 10.1093/hmg/ddq419
By:
- Gegg, Matthew E.;
- Cooper, J. Mark;
- Chau, Kai-Yin;
- Rojo, Manuel;
- Schapira, Anthony H.V.;
- Taanman, Jan-Willem
Publication type:
Article
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4848, doi. 10.1093/hmg/ddq415
By:
- Roll, Patrice;
- Vernes, Sonja C.;
- Bruneau, Nadine;
- Cillario, Jennifer;
- Ponsole-Lenfant, Magali;
- Massacrier, Annick;
- Rudolf, Gabrielle;
- Khalife, Manal;
- Hirsch, Edouard;
- Fisher, Simon E.;
- Szepetowski, Pierre
Publication type:
Article
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4871, doi. 10.1093/hmg/ddq420
By:
- Polito, Vinicia Assunta;
- Abbondante, Serena;
- Polishchuk, Roman S.;
- Nusco, Edoardo;
- Salvia, Rosaria;
- Cosma, Maria Pia
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq487
Publication type:
Article
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4906, doi. 10.1093/hmg/ddq425
By:
- Jodelka, Francine M.;
- Ebert, Allison D.;
- Duelli, Dominik M.;
- Hastings, Michelle L.
Publication type:
Article
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4820, doi. 10.1093/hmg/ddq413
By:
- Durieux, Anne-Cécile;
- Vignaud, Alban;
- Prudhon, Bernard;
- Viou, Mai Thao;
- Beuvin, Maud;
- Vassilopoulos, Stéphane;
- Fraysse, Bodvaël;
- Ferry, Arnaud;
- Lainé, Jeanne;
- Romero, Norma B.;
- Guicheney, Pascale;
- Bitoun, Marc
Publication type:
Article

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