Volume 86; Issue 5

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Human Genetics
Volume 86; Issue 5

Human Genetics

Volume 86; Issue 5

1

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

Michael Krawczak, David N. Cooper

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.84 MB

english, 1991

2

A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis

Mitsuru Shinohara, Shigeru Minowada, Yoshio Aso, Kiyomi Yamada, Yutaka Nakahori, Takashi Tamura, Yasuo Nakagome

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 614 KB

english, 1991

3

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas

Kimiko Yamakawa, Hisako Yanagi, Keijiro Saku, Jun Sasaki, Takaaki Okafuji, Yae Shimakura, Koichi Kawai, Shigeru Tsuchiya, Kohki Takada, Setsuya Naito, Kikuo Arakawa, Hideo Hamaguchi

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 583 KB

english, 1991

4

Polymorphism of the T-cell receptor gamma variable and constant region genes in a Chinese population

N. Ghanem, Z. Soua, X. G. Zhang, M. Zijun, Y. Zhiwei, G. Lefranc, M.-P. Lefranc

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 949 KB

english, 1991

5

Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms

Jane Bailly, Alex E. MacKenzie, Suzanne Leblond, Robert G. Korneluk

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 704 KB

english, 1991

6

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

Joachim Kappler, Peter Leinekugel, Ernst Conzelmann, Wim J. Kleijer, Alfried Kohlschütter, Tønne Tønnesen, Michael Rochel, F. Freycon, Peter Propping

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 891 KB

english, 1991

7

Changes of common fragile sites on chromosomes according to the menstrual cycle

Takashi Furuya, Jun Hagiwara, Hisako Ochi, Hideo Tokuhiro, Ryuichi Kikawada, Toshiaki Karube, Shaw Watanabe

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 420 KB

english, 1991

8

High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives

Danielle Lefrançois, Nadja Kokalj, Evani Viegas-Péquignot, Luc Montagnier, Bernard Dutrillaux

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 528 KB

english, 1991

9

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the “critical segment” towards the telomere

Maria Anvret, Magnus Nordenskjöld, Lisa Stolpe, Lena Johansson, Karen Bröndum-Nielsen

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 241 KB

english, 1991

10

Chromosomal in situ suppression hybridization after Giemsa banding

Martin Klever, Caspar Grond-Ginsbach, Harry Scherthan, Traute M. Schroeder-Kurth

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 314 KB

english, 1991

11

Non-radioactive in situ hybridization pattern of the M13 minisatellite sequences on human metaphase chromosomes

A. Christmann, P. J. L. Lagoda, K. D. Zang

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 760 KB

english, 1991

12

Karyotype pecularities of human colorectal adenocarcinomas

L. N. Konstantinova, E. W. Fleischman, V. I. Knisch, A. G. Perevozchikov, B. P. Kopnin

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 792 KB

english, 1991

13

Molecular analysis of chromosome region 11p13 in patients with Drash syndrome

L. Jadresic, R. B. Wadey, B. Buckle, T. M. Barratt, C. D. Mitchell, J. K. Cowell

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 603 KB

english, 1991

14

Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)

Rajendra Kumar-Singh, Daniel G. Bradley, G. Jane Farrar, Mark Lawler, Siobhan A. Jordan, Peter Humphries

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 366 KB

english, 1991

15

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Peter J. Wilson, Graeme K. Suthers, David F. Callen, Elizabeth Baker, Paul V. Nelson, Alan Cooper, J. Ed Wraith, Grant R. Sutherland, C. Phillip Morris, John J. Hopwood

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 499 KB

english, 1991

16

The human aldose reductase gene maps to chromosome region 7q35

Alexander Graham, Paul Heath, John E. N. Morten, Alexander F. Markham

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 654 KB

english, 1991

17

The human placental protein 14 (PP14) gene is localized on chromosome 9q34

Nguyen Cong, Christian Vaisse, Marie-Sylvie Gross, Rima Slim, Edwin Milgrom, Alain Bernheim

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 606 KB

english, 1991

18

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies

Malgorzata Schmidt, Desirée Sart, Paul Kalitsis, Margaret Leversha, Sue Dale, Leslie Sheffield, Daniela Toniolo

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 487 KB

english, 1991

19

DNA polymorphisms associated with a new α1-antitrypsin PI Q0 variant (PI Q0riedenburg)

W. Poller, J.-P. Faber, S. Weidinger, K. Olek

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 488 KB

english, 1991

20

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9

Elena Raimondi, Pia Bernasconi, Daniela Moralli, Riccardo Fujita, Graziella Uziel, Stefano Donato, Luigi Carli, Massimo Pandolfo

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 357 KB

english, 1991

21

The gene for MEN 2A is tightly linked to the centromere of chromosome 10

Steven A. Narod, Hagay Sobol, Isabelle Schuffenecker, Marie-France Lavoué, Gilbert M. Lenoir

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 209 KB

english, 1991

22

Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele

J. Zlotogora, T. Schaap, M. Zeigler, G. Bach

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 250 KB

english, 1991

23

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

A. Smith, R. Lindeman, F. Volpato, A. Kearney, S. White, E. Haan, R. J. Trent

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 274 KB

english, 1991

24

Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene

Alexandra I. F. Blakemore, Steen Kolvraa, Niels Gregersen, Paul C. Engel, Diana Curtis

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 107 KB

english, 1991

25

High incidence of acute infantile spinal atrophy in Hungary

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 37 KB

english, 1991

26

Erratum

Michal Witt, Robert P. Erickson

Journal:

Année:

1991

Fichier:

PDF, 27 KB

1991