Volume 6; Issue 12

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Human Molecular Genetics
Volume 6; Issue 12

Human Molecular Genetics

Volume 6; Issue 12

1

Evidence for Uniparental, Paternal Expression of the Human GABAA Receptor Subunit Genes, Using Microcell-Mediated Chromosome Transfer

Meguro, M., Mitsuya, K., Sui, H., Shigenami, K., Kugoh, H., Nakao, M., Oshimura, M.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 324 KB

english, 1997

2

Isolation of a New Homeobox Gene Belonging to the Pitx/Rieg Family: Expression During Lens Development and Mapping to the Aphakia Region on Mouse Chromosome 19

Semina, E. V., Reiter, R. S., Murray, J. C.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 381 KB

english, 1997

3

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

Harland, M., Meloni, R., Gruis, N., Pinney, E., Brookes, S., Spurr, N. K., Frischauf, A.-M., Bataille, V., Peters, G., Cuzick, J., Selby, P., Bishop, D. T., Bishop, J. N.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 121 KB

english, 1997

4

Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10

Julier, C., Delepine, M., Keavney, B., Terwilliger, J., Davis, S., Weeks, D. E., Bui, T., Jeunemaitre, X., Velho, G., Froguel, P., Ratcliffe, P., Corvol, P., Soubrier, F., Mark Lathrop, G.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 138 KB

english, 1997

5

Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations

Carrasquillo, M. M., Zlotogora, J., Barges, S., Chakravarti, A.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 1.10 MB

english, 1997

6

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Denoyelle, F., Weil, D., Maw, M. A., Wilcox, S. A., Lench, N. J., Allen-Powell, D. R., Osborn, A. H., Dahl, H.-H. M., Middleton, A., Houseman, M. J., Dode, C., Marlin, S., Boulila-ElGaied, A., Grati,

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 49 KB

english, 1997

7

The Human GARS-AIRS-GART Gene Encodes Two Proteins Which Are Differentially Expressed during Human Brain Development and Temporally Overexpressed in Cerebellum of Individuals with Down Dyndrome

Brodsky, G., Barnes, T., Bleskan, J., Becker, L., Cox, M., Patterson, D.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 341 KB

english, 1997

8

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

Jones, A. C., Daniells, C. E., Snell, R. G., Tachataki, M., Idziaszczyk, S. A., Krawczak, M., Sampson, J. R., Cheadle, J. P.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

9

Increased Trinucleotide Repeat Instability with Advanced Maternal Age

Kaytor, M. D., Burright, E. N., Duvick, L. A., Zoghbi, H. Y., Orr, H. T.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 101 KB

english, 1997

10

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

Tyson, J., Tranebjaerg, L., Bellman, S., Wren, C., Taylor, J. F. N., Bathen, J., Aslaksen, B., Sorland, S. J., Lund, O., Malcolm, S., Pembrey, M., Bhattacharya, S., Bitner-Glindzicz, M.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 203 KB

english, 1997

11

Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population

Laitinen, T., Kauppi, P., Ignatius, J., Ruotsalainen, T., Daly, M. J., Kaariainen, H., Kruglyak, L., Laitinen, H., de la Chapelle, A., Lander, E. S., Laitinen, L. A., Kere, J.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 175 KB

english, 1997

12

The IPL Gene on Chromosome 11p15.5 is Imprinted in Humans and Mice and is Similar to TDAG51, Implicated in Fas Expression and Apoptosis

Qian, N., Frank, D., O'Keefe, D., Dao, D., Zhao, L., Yuan, L., Wang, Q., Keating, M., Walsh, C., Tycko, B.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 337 KB

english, 1997

13

Structural and Functional Characterization of the Human FMR1 Promoter Reveals Similarities with the hnRNP-A2 Promoter Region

Drouin, R., Angers, M., Dallaire, N., Rose, T. M., Khandjian, E. W., Rousseau, F.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 394 KB

english, 1997

14

Distortion of Allelic Expression of Apolipoprotein E in Alzheimer's Disease

Lambert, J.-C., Perez-Tur, J., Dupire, M.-J., Galasko, D., Mann, D., Amouyel, P., Hardy, J., Delacourte, A., Chartier-Harlin, M.-C.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 70 KB

english, 1997

15

Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders

Andrew, S. E., Goldberg, Y. P., Hayden, M. R.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 101 KB

english, 1997

16

A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of A 42(43)

Eckman, C. B., Mehta, N. D., Crook, R., Perez-tur, J., Prihar, G., Pfeiffer, E., Graff-Radford, N., Hinder, P., Yager, D., Zenk, B., Refolo, L. M., Mihail Prada, C., Younkin, S. G., Hutton, M., Hardy,

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 39 KB

english, 1997

17

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

Adam, M. F., Belmouden, A., Binisti, P., Brezin, A. P., Valtot, F., Bechetoille, A., Dascotte, J.-C., Copin, B., Gomez, L., Chaventre, A., Bach, J.-F., Garchon, H.-J.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 218 KB

english, 1997

18

Mammalian Telomerase: Catalytic Subunit and Knockout Mice

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

19

Identification and Characterization of Human Genes Encoding Hprp3p and Hprp4p, Interacting Components of the Spliceosome

Wang, A., Forman-Kay, J., Luo, Y., Luo, M., Chow, Y.-H., Plumb, J., Friesen, J. D., Tsui, L.-C., Heng, H. H. Q., Woolford, J. L., Hu, J.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 332 KB

english, 1997

20

Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types

Kilian, A., Bowtell, D. D. L., Abud, H. E., Hime, G. R., Venter, D. J., Keese, P. K., Duncan, E. L., Reddel, R. R., Jefferson, R. A.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 198 KB

english, 1997

21

Aberrant Processing of the Fugu HD (FrHD) mRNA in Mouse Cells and in Transgenic Mice

Sathasivam, K., Baxendale, S., Mangiarini, L., Bertaux, F., Hetherington, C., Kanazawa, I., Lehrach, H., Bates, G. P.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 156 KB

english, 1997