Volume 15; Issue 21

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Human Molecular Genetics
Volume 15; Issue 21

Human Molecular Genetics

Volume 15; Issue 21

1

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses

Conley, Y. P., Jakobsdottir, J., Mah, T., Weeks, D. E., Klein, R., Kuller, L., Ferrell, R. E., Gorin, M. B.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 204 KB

english, 2006

2

FGF19 is a target for FOXC1 regulation in ciliary body-derived cells

Tamimi, Y., Skarie, J. M., Footz, T., Berry, F. B., Link, B. A., Walter, M. A.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 761 KB

english, 2006

3

Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior

Nishijima, I., Yamagata, T., Spencer, C. M., Weeber, E. J., Alekseyenko, O., Sweatt, J. D., Momoi, M. Y., Ito, M., Armstrong, D. L., Nelson, D. L., Paylor, R., Bradley, A.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 851 KB

english, 2006

4

Cholinergic neuronal defect without cell loss in Huntington's disease

Smith, R., Chung, H., Rundquist, S., Maat-Schieman, M. L.C., Colgan, L., Englund, E., Liu, Y.-J., Roos, R. A.C., Faull, R. L.M., Brundin, P., Li, J.-Y.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2006

5

Functional genetic analysis of mutations implicated in a human speech and language disorder

Vernes, S. C., Nicod, J., Elahi, F. M., Coventry, J. A., Kenny, N., Coupe, A.-M., Bird, L. E., Davies, K. E., Fisher, S. E.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 950 KB

english, 2006

6

Cystathionine -synthase is essential for female reproductive function

Guzman, M. A., Navarro, M. A., Carnicer, R., Sarria, A. J., Acin, S., Arnal, C., Muniesa, P., Surra, J. C., Arbones-Mainar, J. M., Maeda, N., Osada, J.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 612 KB

english, 2006

7

Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease

Nguyen, H. P., Kobbe, P., Rahne, H., Worpel, T., Jager, B., Stephan, M., Pabst, R., Holzmann, C., Riess, O., Korr, H., Kantor, O., Petrasch-Parwez, E., Wetzel, R., Osmand, A., von Horsten, S.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.87 MB

english, 2006

8

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1

Sim, C. H., Lio, D. S. S., Mok, S. S., Masters, C. L., Hill, A. F., Culvenor, J. G., Cheng, H.-C.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 660 KB

english, 2006

9

Evidence for unique association signals in SLE at the CD28-CTLA4-ICOS locus in a family-based study

Graham, D.S. C., Wong, A.K., McHugh, N.J., Whittaker, J.C., Vyse, T. J.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 337 KB

english, 2006

10

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy

Aggarwal, V. S., Liao, J., Bondarev, A., Schimmang, T., Lewandoski, M., Locker, J., Shanske, A., Campione, M., Morrow, B. E.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 848 KB

english, 2006

11

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

Oji, V., Hautier, J. M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P. M., Kuster, W., Hovnanian, A., Hennies, H. C., Traupe, H.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 3.63 MB

english, 2006

12

Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34

Herzberg, I., Jasinska, A., Garcia, J., Jawaheer, D., Service, S., Kremeyer, B., Duque, C., Parra, M. V., Vega, J., Ortiz, D., Carvajal, L., Polanco, G., Restrepo, G. J., Lopez, C., Palacio, C., Levin

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 347 KB

english, 2006

13

Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder

Abdolmaleky, H. M., Cheng, K.-h., Faraone, S. V., Wilcox, M., Glatt, S. J., Gao, F., Smith, C. L., Shafa, R., Aeali, B., Carnevale, J., Pan, H., Papageorgis, P., Ponte, J. F., Sivaraman, V., Tsuang, M

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2006

14

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Tosch, V., Rohde, H. M., Tronchere, H., Zanoteli, E., Monroy, N., Kretz, C., Dondaine, N., Payrastre, B., Mandel, J.-L., Laporte, J.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.48 MB

english, 2006

15

Lentiviral vector expressing retinoic acid receptor 2 promotes recovery of function after corticospinal tract injury in the adult rat spinal cord

Yip, P. K., Wong, L.-F., Pattinson, D., Battaglia, A., Grist, J., Bradbury, E. J., Maden, M., McMahon, S. B., Mazarakis, N. D.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.48 MB

english, 2006