Volume 15; Issue 23

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Human Molecular Genetics
Volume 15; Issue 23

Human Molecular Genetics

Volume 15; Issue 23

1

Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10mutations in oligozoospermic patients impair homodimerization

Yatsenko, A. N., Roy, A., Chen, R., Ma, L., Murthy, L. J., Yan, W., Lamb, D. J., Matzuk, M. M.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 645 KB

english, 2006

2

Genetic determinants modulate susceptibility to pregnancy-associated tumourigenesis in a recombinant line of Min mice

Suraweera, N., Haines, J., McCart, A., Rogers, P., Latchford, A., Coster, M., Polanco-Echeverry, G., Guenther, T., Wang, J., Sieber, O., Tomlinson, I., Silver, A.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

3

Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes

Holaska, J. M., Rais-Bahrami, S., Wilson, K. L.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 591 KB

english, 2006

4

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

Hu, Q., Loeys, B. L., Coucke, P. J., De Paepe, A., Mecham, R. P., Choi, J., Davis, E. C., Urban, Z.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 2.15 MB

english, 2006

5

The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface

Sirerol-Piquer, M. S., Ayerdi-Izquierdo, A., Morante-Redolat, J. M., Herranz-Perez, V., Favell, K., Barker, P. A., Perez-Tur, J.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 832 KB

english, 2006

6

Modulation of the W748S mutation in DNA polymerase by the E1143G polymorphismin mitochondrial disorders

Chan, S. S.L., Longley, M. J., Copeland, W. C.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 456 KB

english, 2006

7

Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice

Ernest, S., Carter, M., Shao, H., Hosack, A., Lerner, N., Colmenares, C., Rosenblatt, D. S., Pao, Y.-H., Ross, M. E., Nadeau, J. H.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 385 KB

english, 2006

8

Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome

Tucker, B., Richards, R. I., Lardelli, M.

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 1.16 MB

english, 2006