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Volume 21; Issue 20
Main
Human Molecular Genetics
Volume 21; Issue 20
Human Molecular Genetics
Volume 21; Issue 20
1
The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome
Horakova, A. H.
,
Moseley, S. C.
,
McLaughlin, C. R.
,
Tremblay, D. C.
,
Chadwick, B. P.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 626 KB
Your tags:
english, 2012
2
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
Jones, T. I.
,
Chen, J. C. J.
,
Rahimov, F.
,
Homma, S.
,
Arashiro, P.
,
Beermann, M. L.
,
King, O. D.
,
Miller, J. B.
,
Kunkel, L. M.
,
Emerson, C. P.
,
Wagner, K. R.
,
Jones, P. L.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 445 KB
Your tags:
english, 2012
3
Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis
Tanwar, P. S.
,
Kaneko-Tarui, T.
,
Zhang, L.
,
Teixeira, J. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 1.28 MB
Your tags:
english, 2012
4
Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease
Cruchaga, C.
,
Kauwe, J. S. K.
,
Nowotny, P.
,
Bales, K.
,
Pickering, E. H.
,
Mayo, K.
,
Bertelsen, S.
,
Hinrichs, A.
,
Fagan, A. M.
,
Holtzman, D. M.
,
Morris, J. C.
,
Goate, A. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 339 KB
Your tags:
english, 2012
5
Analysis of ASB10 variants in open angle glaucoma
Fingert, J. H.
,
Roos, B. R.
,
Solivan-Timpe, F.
,
Miller, K. A.
,
Oetting, T. A.
,
Wang, K.
,
Kwon, Y. H.
,
Scheetz, T. E.
,
Stone, E. M.
,
Alward, W. L. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2012
6
Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa
Koch, S.
,
Sothilingam, V.
,
Garcia Garrido, M.
,
Tanimoto, N.
,
Becirovic, E.
,
Koch, F.
,
Seide, C.
,
Beck, S. C.
,
Seeliger, M. W.
,
Biel, M.
,
Muhlfriedel, R.
,
Michalakis, S.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 587 KB
Your tags:
english, 2012
7
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
Takano, K.
,
Liu, D.
,
Tarpey, P.
,
Gallant, E.
,
Lam, A.
,
Witham, S.
,
Alexov, E.
,
Chaubey, A.
,
Stevenson, R. E.
,
Schwartz, C. E.
,
Board, P. G.
,
Dulhunty, A. F.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 387 KB
Your tags:
english, 2012
8
Cover Page
Journal:
Human Molecular Genetics
Year:
2012
File:
PDF, 267 KB
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2012
9
Contents Page
Journal:
Human Molecular Genetics
Year:
2012
File:
PDF, 34 KB
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2012
10
Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse
Miller, G.
,
Moore, C. J.
,
Terry, R.
,
La Riviere, T.
,
Mitchell, A.
,
Piggott, R.
,
Dear, T. N.
,
Wells, D. J.
,
Winder, S. J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 608 KB
Your tags:
english, 2012
11
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms
Ochala, J.
,
Gokhin, D. S.
,
Penisson-Besnier, I.
,
Quijano-Roy, S.
,
Monnier, N.
,
Lunardi, J.
,
Romero, N. B.
,
Fowler, V. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 451 KB
Your tags:
english, 2012
12
Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes
Julia, A.
,
Tortosa, R.
,
Hernanz, J. M.
,
Canete, J. D.
,
Fonseca, E.
,
Ferrandiz, C.
,
Unamuno, P.
,
Puig, L.
,
Fernandez-Sueiro, J. L.
,
Sanmarti, R.
,
Rodriguez, J.
,
Gratacos, J.
,
Dauden, E.
,
Sanchez-Carazo
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 135 KB
Your tags:
english, 2012
13
Subscription Page
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 30 KB
Your tags:
english, 2012
14
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans
Chen, G.
,
Bentley, A.
,
Adeyemo, A.
,
Shriner, D.
,
Zhou, J.
,
Doumatey, A.
,
Huang, H.
,
Ramos, E.
,
Erdos, M.
,
Gerry, N.
,
Herbert, A.
,
Christman, M.
,
Rotimi, C.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 204 KB
Your tags:
english, 2012
15
Dystrophin and utrophin expression require sarcospan: loss of 7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice
Marshall, J. L.
,
Chou, E.
,
Oh, J.
,
Kwok, A.
,
Burkin, D. J.
,
Crosbie-Watson, R. H.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 703 KB
Your tags:
english, 2012
16
Gonadotropin stimulation contributes to an increased incidence of epimutations in ICSI-derived mice
de Waal, E.
,
Yamazaki, Y.
,
Ingale, P.
,
Bartolomei, M. S.
,
Yanagimachi, R.
,
McCarrey, J. R.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 771 KB
Your tags:
english, 2012
17
Editorial Board
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2012
18
Proteomic, genomic and translational approaches identify CRMP1 for a role in schizophrenia and its underlying traits
Bader, V.
,
Tomppo, L.
,
Trossbach, S. V.
,
Bradshaw, N. J.
,
Prikulis, I.
,
Leliveld, S. R.
,
Lin, C.-Y.
,
Ishizuka, K.
,
Sawa, A.
,
Ramos, A.
,
Rosa, I.
,
Garcia, A.
,
Requena, J. R.
,
Hipolito, M.
,
Rai, N.
,
Nwu
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 384 KB
Your tags:
english, 2012
19
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models
Osborne, M.
,
Gomez, D.
,
Feng, Z.
,
McEwen, C.
,
Beltran, J.
,
Cirillo, K.
,
El-Khodor, B.
,
Lin, M.-Y.
,
Li, Y.
,
Knowlton, W. M.
,
McKemy, D. D.
,
Bogdanik, L.
,
Butts-Dehm, K.
,
Martens, K.
,
Davis, C.
,
Doty, R
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 756 KB
Your tags:
english, 2012
20
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice
Bricceno, K. V.
,
Sampognaro, P. J.
,
Van Meerbeke, J. P.
,
Sumner, C. J.
,
Fischbeck, K. H.
,
Burnett, B. G.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 490 KB
Your tags:
english, 2012
21
Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI
Vimaleswaran, K. S.
,
Tachmazidou, I.
,
Zhao, J. H.
,
Hirschhorn, J. N.
,
Dudbridge, F.
,
Loos, R. J. F.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2012
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