Volume 86; Issue 3

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Human Genetics
Volume 86; Issue 3

Human Genetics

Volume 86; Issue 3

1

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

Jadwiga Jaruzelska, Karen Friis Henriksen, Flemming Güttler, Olaf Riess, Krzysztof Borski, Nikolaus Blin, Ryszard Slomski

Journal:

Year:

1991

Language:

english

File:

PDF, 382 KB

english, 1991

2

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

Volkmar Gieselmann

Journal:

Year:

1991

Language:

english

File:

PDF, 576 KB

english, 1991

3

Fragile sites and chromosome instability: the distribution of breaks induced bycis-diamine-clichloro-platinum (II) in Fanconi anemia lymphocyte cultures

B. Porfirio, D. Smeets, L. Beckers, D. Caporossi, B. Tedeschi, P. Vernole, H. Joenje, B. Nicoletti, B. Dallapiccola

Journal:

Year:

1991

Language:

english

File:

PDF, 457 KB

english, 1991

4

Identification of a break-prone structure in the 9q1 heterochromatic region

Zissis Mamuris, Alain Aurias, Bernard Dutrillaux

Journal:

Year:

1991

Language:

english

File:

PDF, 433 KB

english, 1991

5

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families

Jacqueline B. Jiménez, Christine Samanns, Anke Watty, Johann Pongratz, Jane E. Olsson, Pamela Dickinson, Robert Buttery, Andreas Gal, Michael J. Denton

Journal:

Year:

1991

Language:

english

File:

PDF, 224 KB

english, 1991

6

Assignment of the human CD9 gene to chromosome 12 (region P13) by use of human specific DNA probes

P. Benoit, M. S. Gross, P. Frachet, J. Frézal, G. Uzan, C. Boucheix, Nguyen Cong

Journal:

Year:

1991

Language:

english

File:

PDF, 623 KB

english, 1991

7

Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism

Kerstin Wieland, David S. Millar, Catherine B. Grundy, Reuben S. Mibashan, Vijay V. Kakkar, David N. Cooper

Journal:

Year:

1991

Language:

english

File:

PDF, 882 KB

english, 1991

8

Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis

A. Perdigo, O. Gabriel-Robez, C. Ratoinponirina, Y. Rumpler

Journal:

Year:

1991

Language:

english

File:

PDF, 691 KB

english, 1991

9

Frequency and distribution of aneuploidy in human female gametes

Franck Pellestor

Journal:

Year:

1991

Language:

english

File:

PDF, 603 KB

english, 1991

10

A pooling strategy for heterozygote screening of the ΔF508 cystic fibrosis mutation

Christoph Gille, Klaus Grade, Charles Coutelle

Journal:

Year:

1991

Language:

english

File:

PDF, 258 KB

english, 1991

11

Molecular analysis of PKU haplotypes in the population of southern Poland

Marta Zygulska, Antonin Eigel, Christa Aulehla-Scholz, Jacek J. Pietrzyk, Jürgen Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 300 KB

english, 1991

12

Consanguinity sans reproche

Leo P. Ten Kate, Hans Scheffer, Martina C. Cornel, Joan G. Lookeren Campagne

Journal:

Year:

1991

Language:

english

File:

PDF, 171 KB

english, 1991

13

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

A. Sefiani, R. M'rad, L. Simard, A. Vincent, C. Julier, L. Holvoet-Vermaut, S. Heuertz, N. Dahl, J. F. Stalder, M. O. Peter, C. Moraine, J. Maleville, J. Boyer, I. Oberlé, D. Labuda, M. C. Hors-Cayla

Journal:

Year:

1991

Language:

english

File:

PDF, 286 KB

english, 1991

14

Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity)

R. J. J. Koopman, R. Happle

Journal:

Year:

1991

Language:

english

File:

PDF, 1.00 MB

english, 1991

15

PAH 399 GTA(Val)→GTT(Val), a new silent mutation found in the Chinese

Shu-zhen Huang, Zhao-rui Ren, Yi-tao Zeng, Savio L. C. Woo

Journal:

Year:

1991

Language:

english

File:

PDF, 326 KB

english, 1991

16

TaqI reveals two independent alphoid polymorphisms on human chromosomes 13 and 21

B. Marçais, A. Gérard, M. Bellis, G. Roizès

Journal:

Year:

1991

Language:

english

File:

PDF, 730 KB

english, 1991

17

Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis

B. Marçais, M. Bellis, A. Gérard, M. Pagès, Y. Boublik, G. Roizès

Journal:

Year:

1991

Language:

english

File:

PDF, 1.23 MB

english, 1991

18

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

Katrin Kausch, Clemens R. Müller, Tiemo Grimm, Kenneth Ricker, Marcella Rietschel, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

1991

Language:

english

File:

PDF, 127 KB

english, 1991

19

Hemoglobin Stanleyville II (α78 Asn→Lys) is associated with a 3.7-kb α-globin gene deletion

F. F. Costa, M. F. Sonati, M. A. Zago

Journal:

Year:

1991

Language:

english

File:

PDF, 184 KB

english, 1991

20

Allelic somatic mutations may explain vascular twin nevi

Journal:

Year:

1991

Language:

english

File:

PDF, 156 KB

english, 1991

21

Apolipoprotein A-IV protein polymorphism: frequency and effects on lipids, lipoproteins, and apolipoproteins among Mexican-Americans in Starr County, Texas

Craig L. Hanis, Tommy C. Douglas, David Hewett-Emmett

Journal:

Year:

1991

Language:

english

File:

PDF, 312 KB

english, 1991

22

Type III hyperlipoproteinemia in a patient with idiopathic hemochromatosis

G. Feussner, R. Ziegler

Journal:

Year:

1991

Language:

english

File:

PDF, 251 KB

english, 1991

23

Frequency of the cystic fibrosis mutation ΔF508 in Poland

J. Bal, D. Maciejko, T. Mazurczak, A. Potocka, M. Krawczak, J. Reiss

Journal:

Year:

1991

Language:

english

File:

PDF, 80 KB

english, 1991

24

Announcements

Journal:

Year:

1991

Language:

english

File:

PDF, 34 KB

english, 1991