Volume 4; Issue 5

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Human Molecular Genetics
Volume 4; Issue 5

Human Molecular Genetics

Volume 4; Issue 5

1

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene

Danglot, G., Regnler, V., Fauvet, D., Vassal, G., Kujas, M., Bernheim, A.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 4.91 MB

english, 1995

2

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

Maruyama, H., Nakamura, S., Matsuyama, Z., Sakai, T., Doyu, M., Sobue, G., Seto, M., Tsujihata, M., Oh-i, T., Nishio, T., Sunohara, N., Takahashi, R., Hayashi, M., Nishino, I., Ohtake, T., Oda, T., Ni

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 632 KB

english, 1995

3

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes

Florijn, R. J., Bonden, L. A. J., Vrolijk, H., Wiegant, J., Vaandrager, J.-W., Bass, F., den Dunnen, J. T., Tanke, H. J., van Ommen, G.-J. B., Raap, A. K.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 4.99 MB

english, 1995

4

Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 -hydroxysteroid dehydrogenase deficiency

Tajima, T., Fujieda, K., Nakae, J., Shinohara, N., Yoshimoto, M., Baba, T., Kinoshita, E.-i., Igarashl, Y., Oomura, T.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.17 MB

english, 1995

5

Mitochondrial DNA diversity in the Kuna Amerinds of Panama

Batista, O., Kolman, C. J., Bermingham, E.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 868 KB

english, 1995

6

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Lunt, P. W., Jardine, P. E., Koch, M. C., Maynard, J., Osborn, M., Williams, M., Harper, P. S., Upadhyaya, M.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 2.36 MB

english, 1995

7

A novel dystrophin isoform is required for normal retinal electrophysiology

D'Souza, V. N., Man, N. t., Morris, G. E., Karges, W., Pillers, D.-A. M., Ray, P. N.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 5.17 MB

english, 1995

8

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

Glaser, B., Chiu, K. C., Liu, L., Anker, R., Nestorowicz, A., Cox, N. J., Landau, H., Nurit, K., Thornton, P. S., Stanley, C. A., Cerasl, E., Baker, L., Donis-Keller, H., Permutt, M. A.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.75 MB

english, 1995

9

Characterization of FMR1 proteins isolated from different tissues

Verhelj, C., de Graaff, E., Bakker, C. E., Willemsen, R., Willems, P. J., Meijer, N., Galjaard, H., Reuser, A. J. J., Oostra, B. A., Hoogeveen, A. T.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 7.12 MB

english, 1995

10

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus

Jansen, G., Bachner, D., Coerwinkel, M., Wormskamp, N., Hameister, H., Wieringa, B.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 6.88 MB

english, 1995

11

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

Angrist, M., Bolk, S., Thiel, B., Puffenberger, E. G., Hofstra, R. M., Buys, C. H. C. M., Cass, D. T., Chakravarti, A.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 3.49 MB

english, 1995

12

Author index

Journal:

Human Molecular Genetics

Année:

1995

Fichier:

PDF, 57 KB

1995

13

A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Ultto, J., Christiano, A. M.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.58 MB

english, 1995

14

Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region

Robinson, W. P., Lalande, M.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 571 KB

english, 1995

15

Reverse replication timing for the XIST gene in human fibroblasts

R. Scott, H., Theresa K., C., Stanley M., G.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 2.16 MB

english, 1995

16

The human Y chromosome homologue of XG: transcription of a naturally truncated gene

Weller, P. A., Critcher, R., Goodfellow, P. N., German, J., Ellis, N. A.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.55 MB

english, 1995

17

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

Vincent, P., Plauchu, H., Hazan, J., Faure, S., Weissenbach, J., Godet, J.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 423 KB

english, 1995

18

Corrigendum: SSC polymorphisms in interleukin genes

Borish, L., Mascali, J. J., Klinnert, M., Leppert, M., Rosenwasser, L. J.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 57 KB

english, 1995

19

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region

Bergen, A. A. B., Brink, J. B. t., Riemslag, F., Schuurman, E. J. M., Tijmes, N.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 303 KB

english, 1995

20

Nucleotide sequence analysis of the apolipoprotein B 3' VNTR

Ellsworth, D. L., Shriver, M. D., Boerwinkle, E.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 716 KB

english, 1995

21

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region

Lamour, V., Lecluse, Y., Desmaze, C., Spector, M., Bodescot, M., Aurias, A., Osley, M. A., Lipinski, M.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 5.46 MB

english, 1995

22

No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease

Liddell, M. B., Bayer, A. J., Owen, M. J.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 4.19 MB

english, 1995

23

Erratum: Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease

Telenius, H., Almqvist, E., Kremer, B., Spence, N., Squitieri, F., Nichol, K., Grandell, U., Starr, E., Benjamin, C., Castaldo, I., Calabrese, O., Anvret, M., Goldberg, Y. P., Hayden, M. R.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 57 KB

english, 1995

24

Human cell mutants with very low mitochondrial DNA copy number ( d)

Vaillant, F., Nagley, P.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 9.00 MB

english, 1995

25

Corrigendum: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis

Kobayashi, K., Mizuno, K., Hida, A., Komaki, R., Tomita, K., Matsushita, I., Namiki, M., Iwamoto, T., Tamura, S., Minowada, S., Nakahori, Y., Nakagome, Y.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 57 KB

english, 1995