Volume 8; Issue 9

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Human Molecular Genetics
Volume 8; Issue 9

Human Molecular Genetics

Volume 8; Issue 9

1

The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor in Acute Promyelocytic-Like Leukaemia

Arnould, C., Philippe, C., Bourdon, V., Gregoire, M. J., Berger, R., Jonveaux, P.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 452 KB

english, 1999

2

ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class

Ruiz-Perez, V. L., Carter, S. A., Healy, E., Todd, C., Rees, J. L., Steijlen, P. M., Carmichael, A. J., Lewis, H. M., Hohl, D., Itin, P., Vahlquist, A., Gobello, T., Mazzanti, C., Reggazini, R., Nagy,

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 531 KB

english, 1999

3

Altered Spacing of Promoter Elements Due to the Dodecamer Repeat Expansion Contributes to Reduced Expression of the Cystatin B Gene in EPM1

Lalioti, M. D., Scott, H. S., Antonarakis, S. E.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 325 KB

english, 1999

4

ATP2A2 Mutations in Darier's Disease and Their Relationship to Neuropsychiatric Phenotypes

Jacobsen, N. J. O., Lyons, I., Hoogendoorn, B., Burge, S., Kwok, P.-Y., O'Donovan, M. C., Craddock, N., Owen, M. J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 242 KB

english, 1999

5

A Genome-Wide Scan Reveals a Maternal Susceptibility Locus for Pre-Eclampsia on Chromosome 2p13

Arngrimsson, R., Siguroaroottir, S., Frigge, M. L., Bjarnaoottir, R. I., Jonsson, T., Stefansson, H., Baldursdottir, A., Einarsdottir, A. S., Palsson, B., Snorradottir, S., Lachmeijer, A. M. A., Nicol

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 284 KB

english, 1999

6

Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7

Kaytor, M. D., Duvick, L. A., Skinner, P. J., Koob, M. D., Ranum, L. P. W., Orr, H. T.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 896 KB

english, 1999

7

Sensitivity Issues in DNA Array-Based Expression Measurements and Performance of Nylon Microarrays for Small Samples

Bertucci, F., Bernard, K., Loriod, B., Chang, Y.-C., Granjeaud, S., Birnbaum, D., Nguyen, C., Peck, K., Jordan, B. R.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 551 KB

english, 1999

8

A Putative Drosophila Homolog of the Huntington's Disease Gene

Li, Z., Karlovich, C. A., Fish, M. P., Scott, M. P., Myers, R. M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 437 KB

english, 1999

9

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

Williams, N. M., Rees, M. I., Holmans, P., Norton, N., Cardno, A. G., Jones, L. A., Murphy, K. C., Sanders, R. D., McCarthy, G., Gray, M. Y., Fenton, I., McGuffin, P., Owen, M. J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 1.02 MB

english, 1999

10

Spectrum of novel ATP2A2 mutations in patients with Darier's disease

Sakuntabhai, A., Burge, S., Monk, S., Hovnanian, A.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 287 KB

english, 1999

11

Isolation, Characterization and Mutation Analysis of PEX13-Defective Chinese Hamster Ovary Cell Mutants

Toyama, R., Mukai, S., Itagaki, A., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Wanders, R. J. A., Fujiki, Y.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 927 KB

english, 1999

12

A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Bondurand, N., Kuhlbrodt, K., Pingault, V., Enderich, J., Sajus, M., Tommerup, N., Warburg, M., Hennekam, R. C. M., Read, A. P., Wegner, M., Goossens, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 509 KB

english, 1999

13

Corrigenda

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 5 KB

english, 1999

14

Genetic Modification of Hearing in Tubby Mice: Evidence for the Existence of a Major Gene (moth1) Which Protects Tubby Mice from Hearing Loss

Ikeda, A., Yin Zheng, Q., Rosenstiel, P., Maddatu, T., Zuberi, A. R., Roopenian, D. C., North, M. A., Naggert, J. K., Johnson, K. R., Nishina, P. M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 309 KB

english, 1999

15

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

Pilz, D. T., Kuc, J., Matsumoto, N., Bodurtha, J., Bernadi, B., Tassinari, C. A., Dobyns, W. B., Ledbetter, D. H.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 364 KB

english, 1999

16

Aberrant Interactions of Transcriptional Repressor Proteins with the Huntington's Disease Gene Product, Huntingtin

Boutell, J. M., Thomas, P., Neal, J. W., Weston, V. J., Duce, J., Harper, P. S., Lesley Jones, A.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 510 KB

english, 1999

17

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

Kalff-Suske, M., Wild, A., Topp, J., Wessling, M., Jacobsen, E.-M., Bornholdt, D., Engel, H., Heuer, H., Aalfs, C. M., Ausems, M. G. E. M., Barone, R., Herzog, A., Heutink, P., Homfray, T., Gillessen-

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 276 KB

english, 1999

18

Corrigenda

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 5 KB

english, 1999

19

A Novel System for Assigning the Mode of Inheritance in Mitochondrial Disorders Using Cybrids and Rhodamine 6G

Williams, A. J., Murrell, M., Brammah, S., Minchenko, J., Christodoulou, J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 484 KB

english, 1999

20

Mapping Recombination Hotspots in Human Phosphoglucomutase (PGM1)

Ping Yip, S., Lovegrove, J. U., Rana, N. A., Hopkinson, D. A., Whitehouse, D. B.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 478 KB

english, 1999

21

Null Mutation of the Murine ATP7B (Wilson Disease) Gene Results in Intracellular Copper Accumulation and Late-Onset Hepatic Nodular Transformation

Buiakova, O. I., Xu, J., Lutsenko, S., Zeitlin, S., Das, K., Das, S., Ross, B. M., Mekios, C., Scheinberg, I. H., Gilliam, T. C.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 289 KB

english, 1999

22

Combined Sib-TDT and TDT Provide Evidence for Linkage of the Interleukin-1 Gene Cluster to Erosive Rheumatoid Arthritis

Cox, A., Camp, N. J., Cannings, C., di Giovine, F. S., Dale, M., Worthington, J., John, S., Ollier, W. E. R., Silman, A. J., Duff, G. W.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

23

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Odent, S., Attie-Bitach, T., Blayau, M., Mathieu, M., Auge, J., Delezoide, A. L., Le Gall, J. Y., Le Marec, B., Munnich, A., David, V., Vekemans, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

24

A Conserved Nuclear Element with a Role in Mammalian Gene Regulation

Donnelly, S. R., Hawkins, T. E., Moss, S. E.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 677 KB

english, 1999

25

Doublecortin, a Stabilizer of Microtubules

Horesh, D., Sapir, T., Francis, F., Grayer Wolf, S., Caspi, M., Elbaum, M., Chelly, J., Reiner, O.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 1.70 MB

english, 1999

26

French Machado-Joseph Disease Patients Do Not Exhibit Gametic Segregation Distortion: A Sperm Typing Analysis

Grewal, R. P., Cancel, G., Leeflang, E. P., Durr, A., McPeek, M. S., Draghinas, D., Yao, X., Stevanin, G., Alnot, M.-O., Brice, A., Arnheim, N.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 188 KB

english, 1999

27

The Plasticity of Human Telomeres Demonstrated by a Hypervariable Telomere Repeat Array That Is Located on Some Copies of 16p and 16q

Coleman, J., Baird, D. M., Royle, N. J.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 1008 KB

english, 1999

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