Volume 8; Issue 8

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Human Molecular Genetics
Volume 8; Issue 8

Human Molecular Genetics

Volume 8; Issue 8

1

A Common Functional Polymorphism (C->A Substitution at Position -863) in the Promoter Region of the Tumour Necrosis Factor- (TNF- ) Gene Associated With Reduced Circulating Levels of TNF-

Skoog, T., van't Hooft, F. M., Kallin, B., Jovinge, S., Boquist, S., Nilsson, J., Eriksson, P., Hamsten, A.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 343 KB

english, 1999

2

Aberrant Splicing in the Presenilin-1 Intron 4 Mutation Causes Presenile Alzheimer's Disease by Increased A 42 Secretion

De Jonghe, C., MarcCruts,, Rogaeva, E. A., Tysoe, C., Singleton, A., Vanderstichele, H., Meschino, W., Dermaut, B., Vanderhoeven, I., Backhovens, H., Vanmechelen, E., Morris, C. M., Hardy, J., Rubins

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 828 KB

english, 1999

3

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Marsh, D. J., Kum, J. B., Lunetta, K. L., Bennett, M. J., Gorlin, R. J., Ahmed, S. F., Bodurtha, J., Crowe, C., Curtis, M. A., Dasouki, M., Dunn, T., Feit, H., Geraghty, M. T., Graham, J. M., Hodgson,

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 426 KB

english, 1999

4

Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency

van Grunsven, E. G., Mooijer, P. A. W., Aubourg, P., Wanders, R. J. A.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 339 KB

english, 1999

5

Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells

Kimberland, M. L., Divoky, V., Prchal, J., Schwahn, U., Berger, W., Kazazian, H. H.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 157 KB

english, 1999

6

Linkage and Association of Atopic Asthma to Markers on Chromosome 13 in the Japanese Population

Kimura, K., Noguchi, E., Shibasaki, M., Arinami, T., Yokouchi, Y., Takeda, K., Yamakawa-Kobayashi, K., Matsui, A., Hamaguchi, H.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

7

Spectrum of Mutations in the HFE Gene Implicated in Haemochromatosis and Porphyria

de Villiers, J. N. P., Hillermann, R., Loubser, L., Kotze, M. J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 266 KB

english, 1999

8

Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice

Dixon, M. J., Gazzard, J., Chaudhry, S. S., Sampson, N., Schulte, B. A., Steel, K. P.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 720 KB

english, 1999

9

The Pattern of Replication at a Human Telomeric Region (16p13.3): Its Relationship to Chromosome Structure and Gene Expression

Smith, Z. E., Higgs, D. R.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 781 KB

english, 1999

10

A Nonsense Mutation in a Novel Gene Is Associated With Retinitis Pigmentosa in a Family Linked to the RP1 Locus

Guillonneau, X., Piriev, N. I., Danciger, M., Kozak, C. A., Cideciyan, A. V., Jacobson, S. G., Farber, D. B.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 646 KB

english, 1999

11

Defective Copper-Induced Trafficking and Localization of the Menkes Protein in Patients With Mild and Copper-Treated Classical Menkes Disease

Ambrosini, L., Mercer, J. F. B.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 843 KB

english, 1999

12

Variation in the Biochemical/Biophysical Properties of Mutant Superoxide Dismutase 1 Enzymes and the Rate of Disease Progression in Familial Amyotrophic Lateral Sclerosis Kindreds

Ratovitski, T., Corson, L. B., Strain, J., Wong, P., Cleveland, D. W., Culotta, V. C., Borchelt, D. R.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 631 KB

english, 1999

13

High Prevalence of Symptoms of Meniere's Disease in three Families With a Mutation in the COCH Gene

Fransen, E., Verstreken, M., Verhagen, W. I. M., Wuyts, F. L., Huygen, P. L. M., D'Haese, P., Robertson, N. G., Morton, C. C., McGuirt, W. T., Smith, R. J. H., Declau, F., Van de Heyning, P. H., Van C

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

14

Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome

Tsai, T.-F., Jiang, Y.-h., Bressler, J., Armstrong, D., Beaudet, A. L.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 419 KB

english, 1999

15

Cellular Dysfunction of LQT5-MinK Mutants: Abnormalities of IKs, IKr and Trafficking in Long QT Syndrome

Bianchi, L., Shen, Z., Dennis, A. T., Priori, S. G., Napolitano, C., Ronchetti, E., Bryskin, R., Schwartz, P. J., Brown, A. M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 449 KB

english, 1999

16

Characterization of the Menkes Protein Copper-Binding Domains and Their Role in Copper-Induced Protein Relocalization

Goodyer, I. D., Jones, E. E., Monaco, A. P., Francis, M. J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 392 KB

english, 1999

17

The Mouse Peutz-Jeghers Syndrome Gene Lkbl Encodes a Nuclear Protein Kinase

Smith, D. P., Spicer, J., Smith, A., Swift, S., Ashworth, A.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 630 KB

english, 1999

18

Novel Alternatively Spliced Isoforms of the Neurofibromatosis Type 2 Tumor Suppressor Are Targeted to the Nucleus and Cytoplasmic Granules

Schmucker, B., Tang, Y., Kressel, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 572 KB

english, 1999

19

An L1 Element Intronic Insertion in the Black-Eyed White (Mitfmi-bw) Gene: The Loss of a Single Mitf Isoform Responsible for the Pigmentary Defect and Inner Ear Deafness

Yajima, I., Sato, S., Kimura, T., Yasumoto, K.-i., Shibahara, S., Goding, C. R., Yamamoto, H.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 564 KB

english, 1999

20

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., Waterham, H. R.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 261 KB

english, 1999

21

Mild Impairment of Learning and Memory in Mice Overexpressing the mSim2 Gene Located on Chromosome 16: An Animal Model of Down's Syndrome

Ema, M., Ikegami, S., Hosoya, T., Mimura, J., Ohtani, H., Nakao, K., Inokuchi, K., Katsuki, M., Fujii-Kuriyama, Y.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 464 KB

english, 1999

22

Corrigendum

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

23

Erratum

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

24

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

Ambrosini, L, Mercer, J F

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 843 KB

english, 1999