Volume 19; Issue 20

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Human Molecular Genetics
Volume 19; Issue 20

Human Molecular Genetics

Volume 19; Issue 20

1

Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration

Hebert, S. S., Papadopoulou, A. S., Smith, P., Galas, M.-C., Planel, E., Silahtaroglu, A. N., Sergeant, N., Buee, L., De Strooper, B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 498 KB

english, 2010

2

Editorial Board

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 25 KB

english, 2010

3

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., Almeida, J., Bacchelli, E., Bailey, A. J., Baird, G., Battaglia, A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 218 KB

english, 2010

4

Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study

Bowden, D. W., An, S. S., Palmer, N. D., Brown, W. M., Norris, J. M., Haffner, S. M., Hawkins, G. A., Guo, X., Rotter, J. I., Chen, Y.- D. I., Wagenknecht, L. E., Langefeld, C. D.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

5

Cardiac defects contribute to the pathology of spinal muscular atrophy models

Shababi, M., Habibi, J., Yang, H. T., Vale, S. M., Sewell, W. A., Lorson, C. L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 870 KB

english, 2010

6

Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma

Chiang, M.-C., Chen, C.-M., Lee, M.-R., Chen, H.-W., Chen, H.-M., Wu, Y.-S., Hung, C.-H., Kang, J.-J., Chang, C.-P., Chang, C., Wu, Y.-R., Tsai, Y.-S., Chern, Y.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 678 KB

english, 2010

7

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Blauw, H. M., Al-Chalabi, A., Andersen, P. M., van Vught, P. W. J., Diekstra, F. P., van Es, M. A., Saris, C. G. J., Groen, E. J. N., van Rheenen, W., Koppers, M., van't Slot, R., Strengman, E., Estra

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 211 KB

english, 2010

8

Sarcoidosis HLA class II genotyping distinguishes differences of clinical phenotype across ethnic groups

Sato, H., Woodhead, F. A., Ahmad, T., Grutters, J. C., Spagnolo, P., van den Bosch, J. M. M., Maier, L. A., Newman, L. S., Nagai, S., Izumi, T., Wells, A. U., du Bois, R. M., Welsh, K. I.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 268 KB

english, 2010

9

A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 26 KB

english, 2010

10

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

Chan, Y. M., Keramaris-Vrantsis, E., Lidov, H. G., Norton, J. H., Zinchenko, N., Gruber, H. E., Thresher, R., Blake, D. J., Ashar, J., Rosenfeld, J., Lu, Q. L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 566 KB

english, 2010

11

A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma

Chakrabarti, S., Ghanekar, Y., Kaur, K., Kaur, I., Mandal, A. K., Rao, K. N., Parikh, R. S., Thomas, R., Majumder, P. P.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

12

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

Heier, C. R., Satta, R., Lutz, C., DiDonato, C. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 579 KB

english, 2010

13

Contents Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

14

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 32 KB

english, 2010

15

Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar

Smith, A. J. P., Palmen, J., Putt, W., Talmud, P. J., Humphries, S. E., Drenos, F.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 774 KB

english, 2010

16

Early heart failure in the SMN 7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

Bevan, A. K., Hutchinson, K. R., Foust, K. D., Braun, L., McGovern, V. L., Schmelzer, L., Ward, J. G., Petruska, J. C., Lucchesi, P. A., Burghes, A. H. M., Kaspar, B. K.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

17

Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease

Kim, J., Moody, J. P., Edgerly, C. K., Bordiuk, O. L., Cormier, K., Smith, K., Beal, M. F., Ferrante, R. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 608 KB

english, 2010

18

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

Burns, B., Schmidt, K., Williams, S. R., Kim, S., Girirajan, S., Elsea, S. H.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 630 KB

english, 2010

19

Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia

Saus, E., Soria, V., Escaramis, G., Vivarelli, F., Crespo, J. M., Kagerbauer, B., Menchon, J. M., Urretavizcaya, M., Gratacos, M., Estivill, X.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

20

Mitochondrial myopathy induces a starvation-like response

Tyynismaa, H., Carroll, C. J., Raimundo, N., Ahola-Erkkila, S., Wenz, T., Ruhanen, H., Guse, K., Hemminki, A., Peltola-Mjosund, K. E., Tulkki, V., Oresic, M., Moraes, C. T., Pietilainen, K., Hovatta,

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 361 KB

english, 2010

21

-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Granados-Riveron, J. T., Ghosh, T. K., Pope, M., Bu'Lock, F., Thornborough, C., Eason, J., Kirk, E. P., Fatkin, D., Feneley, M. P., Harvey, R. P., Armour, J. A. L., David Brook, J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 514 KB

english, 2010

22

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 351 KB

2010

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