Volume 20; Issue 13

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Human Molecular Genetics
Volume 20; Issue 13

Human Molecular Genetics

Volume 20; Issue 13

1

Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy

Sinclair, P. B., Parker, H., An, Q., Rand, V., Ensor, H., Harrison, C. J., Strefford, J. C.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 572 KB

english, 2011

2

Molecular and cellular characterization of novel -mannosidosis mutations

Kuokkanen, E., Riise Stensland, H. M. F., Smith, W., Kjeldsen Buvang, E., Van Nguyen, L., Nilssen, O., Heikinheimo, P.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

3

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

Staudigl, M., Gersting, S. W., Danecka, M. K., Messing, D. D., Woidy, M., Pinkas, D., Kemter, K. F., Blau, N., Muntau, A. C.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 497 KB

english, 2011

4

Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice

Vernia, S., Heredia, M., Criado, O., Rodriguez de Cordoba, S., Garcia-Roves, P. M., Cansell, C., Denis, R., Luquet, S., Foufelle, F., Ferre, P., Sanz, P.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 592 KB

english, 2011

5

Cover Page

Journal:

Human Molecular Genetics

Year:

2011

File:

PDF, 1.37 MB

2011

6

Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E

Shen, H., Barry, D. M., Dale, J. M., Garcia, V. B., Calcutt, N. A., Garcia, M. L.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 638 KB

english, 2011

7

Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk

Nan, H., Xu, M., Zhang, J., Zhang, M., Kraft, P., Qureshi, A. A., Chen, C., Guo, Q., Hu, F. B., Rimm, E. B., Curhan, G., Song, Y., Amos, C. I., Wang, L.-E., Lee, J. E., Wei, Q., Hunter, D. J., Han, J.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 207 KB

english, 2011

8

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency

Bouhali, K., Dipietromaria, A., Fontaine, A., Caburet, S., Barbieri, O., Bellessort, B., Fellous, M., Veitia, R. A., Levi, G.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 481 KB

english, 2011

9

The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population

Terao, C., Yamada, R., Ohmura, K., Takahashi, M., Kawaguchi, T., Kochi, Y., Kokubo, M., Diop, G., Yukawa, N., Kawabata, D., Usui, T., Fujii, T., Yoshimura, N., Matsuo, K., Tajima, K., Meziani, R., Shi

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 141 KB

english, 2011

10

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 371 KB

english, 2011

11

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

Lanson, N. A., Maltare, A., King, H., Smith, R., Kim, J. H., Taylor, J. P., Lloyd, T. E., Pandey, U. B.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 717 KB

english, 2011

12

The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

Lopes, V. S., Gibbs, D., Libby, R. T., Aleman, T. S., Welch, D. L., Lillo, C., Jacobson, S. G., Radu, R. A., Steel, K. P., Williams, D. S.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 449 KB

english, 2011

13

Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks

Mason, J. M., Sekiguchi, J. M.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 360 KB

english, 2011

14

Contents Page

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 34 KB

english, 2011

15

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

Ropers, F., Derivery, E., Hu, H., Garshasbi, M., Karbasiyan, M., Herold, M., Nurnberg, G., Ullmann, R., Gautreau, A., Sperling, K., Varon, R., Rajab, A.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

16

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

Burckle, C., Gaude, H.-M., Vesque, C., Silbermann, F., Salomon, R., Jeanpierre, C., Antignac, C., Saunier, S., Schneider-Maunoury, S.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 791 KB

english, 2011

17

Functional significance of mutations in the Snf2 domain of ATRX

Mitson, M., Kelley, L. A., Sternberg, M. J. E., Higgs, D. R., Gibbons, R. J.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 303 KB

english, 2011

18

Subscription Page

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 31 KB

english, 2011

19

Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin- 2-deficient mouse model of congenital muscular dystrophy

Homma, S., Beermann, M. L., Miller, J. B.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 465 KB

english, 2011

20

Phenotype mining in CNV carriers from a population cohort

Pietilainen, O. P. H., Rehnstrom, K., Jakkula, E., Service, S. K., Congdon, E., Tilgmann, C., Hartikainen, A.-L., Taanila, A., Heikura, U., Paunio, T., Ripatti, S., Jarvelin, M.-R., Isohanni, M., Saba

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 237 KB

english, 2011