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Volume 17; Issue 18
Main
Human Molecular Genetics
Volume 17; Issue 18
Human Molecular Genetics
Volume 17; Issue 18
1
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
McBride, K. L.
,
Riley, M. F.
,
Zender, G. A.
,
Fitzgerald-Butt, S. M.
,
Towbin, J. A.
,
Belmont, J. W.
,
Cole, S. E.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 434 KB
Your tags:
english, 2008
2
Polygenic determinants of severe hypertriglyceridemia
Wang, J.
,
Ban, M. R.
,
Zou, G. Y.
,
Cao, H.
,
Lin, T.
,
Kennedy, B. A.
,
Anand, S.
,
Yusuf, S.
,
Huff, M. W.
,
Pollex, R. L.
,
Hegele, R. A.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 86 KB
Your tags:
english, 2008
3
Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse
Ehrmann, I.
,
Dalgliesh, C.
,
Tsaousi, A.
,
Paronetto, M. P.
,
Heinrich, B.
,
Kist, R.
,
Cairns, P.
,
Li, W.
,
Mueller, C.
,
Jackson, M.
,
Peters, H.
,
Nayernia, K.
,
Saunders, P.
,
Mitchell, M.
,
Stamm, S.
,
Sette,
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 1.49 MB
Your tags:
english, 2008
4
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia
Auchere, F.
,
Santos, R.
,
Planamente, S.
,
Lesuisse, E.
,
Camadro, J.-M.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 399 KB
Your tags:
english, 2008
5
Embryonic motor axon development in the severe SMA mouse
McGovern, V. L.
,
Gavrilina, T. O.
,
Beattie, C. E.
,
Burghes, A. H.M.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 970 KB
Your tags:
english, 2008
6
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates
Scaringe, W. A.
,
Li, K.
,
Gu, D.
,
Gonzalez, K. D.
,
Chen, Z.
,
Hill, K. A.
,
Sommer, S. S.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 269 KB
Your tags:
english, 2008
7
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
Yehezkel, S.
,
Segev, Y.
,
Viegas-Pequignot, E.
,
Skorecki, K.
,
Selig, S.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 701 KB
Your tags:
english, 2008
8
Nicotinic acetylcholine receptor 2 subunit gene implicated in a systems-based candidate gene study of smoking cessation
Conti, D. V.
,
Lee, W.
,
Li, D.
,
Liu, J.
,
Van Den Berg, D.
,
Thomas, P. D.
,
Bergen, A. W.
,
Swan, G. E.
,
Tyndale, R. F.
,
Benowitz, N. L.
,
Lerman, C.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2008
9
Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease
Chapuis, J.
,
Moisan, F.
,
Mellick, G.
,
Elbaz, A.
,
Silburn, P.
,
Pasquier, F.
,
Hannequin, D.
,
Lendon, C.
,
Campion, D.
,
Amouyel, P.
,
Lambert, J.-C.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 292 KB
Your tags:
english, 2008
10
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
Sigurdsson, S.
,
Nordmark, G.
,
Garnier, S.
,
Grundberg, E.
,
Kwan, T.
,
Nilsson, O.
,
Eloranta, M.-L.
,
Gunnarsson, I.
,
Svenungsson, E.
,
Sturfelt, G.
,
Bengtsson, A. A.
,
Jonsen, A.
,
Truedsson, L.
,
Rantapaa-D
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 289 KB
Your tags:
english, 2008
11
Loss of polycystin-1 causes centrosome amplification and genomic instability
Battini, L.
,
Macip, S.
,
Fedorova, E.
,
Dikman, S.
,
Somlo, S.
,
Montagna, C.
,
Gusella, G. L.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 2.94 MB
Your tags:
english, 2008
12
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
Geier, C.
,
Gehmlich, K.
,
Ehler, E.
,
Hassfeld, S.
,
Perrot, A.
,
Hayess, K.
,
Cardim, N.
,
Wenzel, K.
,
Erdmann, B.
,
Krackhardt, F.
,
Posch, M. G.
,
Bublak, A.
,
Nagele, H.
,
Scheffold, T.
,
Dietz, R.
,
Chien, K.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 2.45 MB
Your tags:
english, 2008
13
A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice
Teuling, E.
,
van Dis, V.
,
Wulf, P. S.
,
Haasdijk, E. D.
,
Akhmanova, A.
,
Hoogenraad, C. C.
,
Jaarsma, D.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 3.71 MB
Your tags:
english, 2008
14
PTHR1 mutations associated with Ollier disease result in receptor loss of function
Couvineau, A.
,
Wouters, V.
,
Bertrand, G.
,
Rouyer, C.
,
Gerard, B.
,
Boon, L. M.
,
Grandchamp, B.
,
Vikkula, M.
,
Silve, C.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 512 KB
Your tags:
english, 2008
15
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis
Martin, D. C.
,
Atmuri, V.
,
Hemming, R. J.
,
Farley, J.
,
Mort, J. S.
,
Byers, S.
,
Hombach-Klonisch, S.
,
Csoka, A. B.
,
Stern, R.
,
Triggs-Raine, B. L.
Journal:
Human Molecular Genetics
Year:
2008
Language:
english
File:
PDF, 21 KB
Your tags:
english, 2008
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