Volume 4; Issue 1

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Human Molecular Genetics
Volume 4; Issue 1

Human Molecular Genetics

Volume 4; Issue 1

1

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Monckton, D. G., Wong, L.-J. C., Ashizawa, T., Caskey, C. T.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 7.72 MB

english, 1995

2

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

VoRechovsky, I., Vihinen, M., de Saint Basile, G., Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A., Smith, C.I.E.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.94 MB

english, 1995

3

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

Carmi, R., Rokhlina, T., Kwitek-Black, A. E., Elbedour, K., Nishimura, D., Stone, E. M., Sheffield, V. C.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.85 MB

english, 1995

4

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability

P.Leeflang, E., Arnhelm, N.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.97 MB

english, 1995

5

Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers

J.Bell, C., L.Budarf, M., W.Nieuwenhuijsen, B., L.Barnoski, B., H.Buetow, K., Campbell, K., M.E.Colbert, A., Collins, J., Daly, M., R.Desjardins, P., DeZwaan, T., Eckman, B., Foote, S., Hart, K., Hies

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 6.31 MB

english, 1995

6

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome

Ludecke, H.-J., J.Wagner, M., Nardmann, J., Pillo, B. L., E.Parrish, J., J.Willems, P., A.Haan, E., Frydman, M., J.H.Hamers, G., E.Weils, D., Horsthemke, B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.85 MB

english, 1995

7

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

Graaff, E. d., Rouillard, P., J.Willems, P., P.T.Smits, A., Rousseau, F., A.Oostra, B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.01 MB

english, 1995

8

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 6.07 MB

english, 1995

9

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease

Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 612 KB

english, 1995

10

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons

Sainz, J., Figueroa, K., E.Baser, M., Mautner, V.-F., Pulst, S.-M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.32 MB

english, 1995

11

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

F.Davles, A., J.Stephens, R., G.OIavesen, M., Heather, L., J.Dixon, M., Magee, A., Flinter, F., Ragoussis, J.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.99 MB

english, 1995

12

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

Sankila, E.-M., Pakarinen, L., Kaariainen, H., Aittomaki, K., Karjalainen, S., Sistonen, P., de la Chapelle, A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 446 KB

english, 1995

13

Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents

Thacker, J., E.Tambini, C., J.Simpson, P., Tsui, L.-C., W.Scherer, S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.93 MB

english, 1995

14

Deletions of both 5(IV) and 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

Heidet, L., Dahan, K., Zhou, J., Xu, Z., Cochat, P., Gould, J. D. M., Leppig, K. A., Proesmans, W., Guyot, C., Guillot, M., Roussel, B., Tryggvason, K., Grunfeld, J.-P., Gubler, M.-C., Antignac, C.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 749 KB

english, 1995

15

Author index

Journal:

Human Molecular Genetics

Year:

1995

File:

PDF, 48 KB

1995

16

Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas

M.Shanley, S., Dawkins, H., J.Wainwright, B., Wicking, C., Heenan, P., Eldon, M., Searle, J., Chenevlx-Trench, G.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.99 MB

english, 1995

17

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

Brown, D. M., Vandenburgh, K., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., Stone, E. M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.02 MB

english, 1995

18

Deficiency of lecithin: cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene

Wlebusch, H., Cullen, p., S.Owen, J., Collins, D., S.Sharp, P., Funke, H., Assmann, G.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.71 MB

english, 1995

19

Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population

Morell, R., Liang, Y., Asher, J. H., Weber, J. L., Hinnant, J. T., Winata, S., Arhya, I. N., Friedman, T. B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 695 KB

english, 1995

20

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family

Mundlos, S., Mulliken, J. B., Abramsom, D. L., Warman, M. L., Knoll, J. H. M., Olsen, B. R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 526 KB

english, 1995

21

Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing

Frigerio, J.-M., Berthezene, P., Garrido, P., Barthellemy, E. O. S., Vasseur, S., Sastre, B., Seleznieff, I., Dagorn, J.-C., lovanna, J. L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.43 MB

english, 1995