Volume 81; Issue 1

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Human Genetics
Volume 81; Issue 1

Human Genetics

Volume 81; Issue 1

1

Molecular evidence for true isochromosome 21q

Jean H. Priest, R. Dwain Blackston, Lisa A. Pearse, Stephen T. Warren

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 337 KB

english, 1988

2

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe

Daniel Sinnett, Léo Lavergne, Serge B. Melançon, Louis Dallaire, Michel Potier, Damian Labuda

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 653 KB

english, 1988

3

Effects of folate in culture medium on common fragile sites in lymphocyte chromosomes from normal and leukemic children

Richard J. Green, Donald L. Phillips, Andrew T. L. Chen, John A. Reidy, Abdel H. Ragab

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 415 KB

english, 1988

4

Molecular studies of haemophilia B in Sweden

Claes Wadelius, Margareta Blombäck, Ulf Pettersson

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 640 KB

english, 1988

5

Molecular characterization of ataxia telangiectasia T cell clones

Marc-Henri Stern, Fangrong Zhang, Gilles Thomas, Claude Griscelli, Alain Aurias

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 539 KB

english, 1988

6

A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms

B. Bardoni, S. Guioli, E. Maserati, P. Maraschio, G. Camerino

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 602 KB

english, 1988

7

A family study of multiple mutations of alpha and delta glycophorins (glycophorins A and B)

C. -H. Huang, K. V. Puglia, W. L. Bigbee, M. L. Guizzo, M. Hoffman, O. O. Blumenfeld

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 830 KB

english, 1988

8

Variability of human rRNA genes: inheritance and nonrandom chromosomal distribution of structural variants of nontranscribed spacer sequences

I. V. Garkavtsev, T. G. Tsvetkova, N. A. Yegolina, A. V. Gudkov

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 1.47 MB

english, 1988

9

Increased methotrexate-induced chromosome breakage in patients with free trisomy 21 and their parents

Lothar Pelz, Jürgen Götz, Gabriele Krüger, Gabriele Witt

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 280 KB

english, 1988

10

Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours

M. Mannens, R. M. Slater, C. Heyting, J. Bliek, J. Kraker, N. Coad, P. Pagter-Holthuizen, P. L. Pearson

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1988

11

Isolation of human chromosome 21 sequences and their application to in situ hybridization

Kong H. Choo, Gay Filby, Elizabeth Earle, Ruth Brown

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 1.24 MB

english, 1988

12

Cystic fibrosis: typing 89 German families with linked DNA probes

J. Weber, C. Aulehla-Scholz, R. Kaiser, A. Eigel, M. Neugebauer, J. Horst, K. Olek

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 216 KB

english, 1988

13

Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14

Christopher D. Mitchell, John K. Cowell

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 776 KB

english, 1988

14

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

S. Szpiro-Tapia, A. Sefiani, M. Guilloud-Bataille, S. Heuertz, B. Marec, J. Frézal, P. Maroteaux, M. C. Hors-Cayla

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 288 KB

english, 1988

15

Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes

Gabriele Rittner, Gesa Schwanitz, Max P. Baur, Carol M. Black, Ken I. Welsh, Peter Kühnl, Christian Rittner

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 643 KB

english, 1988

16

Klinefelter's syndrome in Sardinia and Scotland

Andrew D. Carothers, Giorgio Filippi

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 550 KB

english, 1988

17

DNA haplotypes of the human apoprotein B gene in coronary atherosclerosis

G. A. A. Ferns, D. Robinson, D. J. Galton

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 581 KB

english, 1988

18

A mosaic 45,X/46,X,4(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique

J. A. Crolla, J. C. Llerena

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 997 KB

english, 1988

19

Linkage studies in X-linked Alport's syndrome

S. Szpiro-Tapia, G. Bobrie, M. Guilloud-Bataille, S. Heuertz, C. Julier, J. Frézal, J. P. Grünfeld, M. C. Hors-Cayla

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 292 KB

english, 1988

20

Assignment of ecto-5′-nucleotidase to human chromosome 6

J. M. Boyle, Y. Hey, A. Guerts van Kessel, M. Fox

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 510 KB

english, 1988

21

Genetic studies of low-abundance human plasma proteins

M. I. Kamboh, L. Lyons, R. E. Ferrell

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 163 KB

english, 1988

22

A new method for FXIIIA genetic variants determination using isoelectric focusing in 1Murea

Ismail M. Sebetan

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 267 KB

english, 1988

23

Editorial help

Journal:

Année:

1988

Fichier:

PDF, 75 KB

1988