Volume 84; Issue 1

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Human Genetics
Volume 84; Issue 1

Human Genetics

Volume 84; Issue 1

1

Why is the cystic fibrosis gene so frequent?

Giovanni Romeo, Marcella Devoto, Luis Juan Vicente Galietta

Journal:

Year:

1989

Language:

english

File:

PDF, 550 KB

english, 1989

2

Localization of the active type I DNA topoisomerase gene on human chromosome 20q11.2-13.1, and two pseudogenes on chromosomes 1q23-24 and 22q11.2-13.1

N. Kunze, G. C. Yang, Z. Y. Jiang, H. Hameister, S. Adolph, K. -H. Wiedorn, A. Richter, R. Knippers

Journal:

Year:

1989

Language:

english

File:

PDF, 901 KB

english, 1989

3

Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male

Judith Goodship, Roland Levinsky, Sue Malcolm

Journal:

Year:

1989

Language:

english

File:

PDF, 346 KB

english, 1989

4

G2chromosomal radiosensitivity in families with ataxia-telangiectasia

Yosef Shiloh, Ram Parshad, Moshe Frydman, Katherine K. Sanford, Sima Portnoi, Yael Ziv, Gary M. Jones

Journal:

Year:

1989

Language:

english

File:

PDF, 438 KB

english, 1989

5

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

S. Guioli, B. Arveiler, B. Bardoni, L. D. Notarangelo, P. Panina, M. Duse, A. Ugazio, I. Oberlé, G. Saint Basile, J. L. Mandel, G. Camerino

Journal:

Year:

1989

Language:

english

File:

PDF, 292 KB

english, 1989

6

Physical fine-mapping of a deletion spanning the Norrie gene

P. J. Diergaarde, B. Wieringa, E. M. Bleeker-Wagemakers, K. B. Sims, X. O. Breakefield, H. -H. Ropers

Journal:

Year:

1989

Language:

english

File:

PDF, 804 KB

english, 1989

7

The volumes and morphology of human chromosomes in mitotic reconstructions

J. S. Heslop-Harrison, A. R. Leitch, T. Schwarzacher, J. B. Smith, M. D. Atkinson, M. D. Bennett

Journal:

Year:

1989

Language:

english

File:

PDF, 1.87 MB

english, 1989

8

Increased detectability of somatic changes in the DNA from human tumours after probing with “synthetic” and “genome-derived” hypervariable multilocus probes

P. J. L. Lagoda, G. Seitz, J. T. Epplen, O. -G. Issinger

Journal:

Year:

1989

Language:

english

File:

PDF, 783 KB

english, 1989

9

Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction

Supan Fucharoen, Goonnapa Fucharoen, Winionman Sriroongrueng, Vichai Laosombat, Arunee Jetsrisuparb, Sutthipan Prasatkaew, Voravarn S. Tanphaichitr, Vinai Suvatte, Soodsarkorn Tuchinda, Yasuyuki Fukum

Journal:

Year:

1989

Language:

english

File:

PDF, 730 KB

english, 1989

10

The spectrum of β-thalassemia mutations in northern and northeastern Thailand

Marion Laig, T. Sanguansermsri, S. Wiangnon, J. Hundrieser, M. Pape, G. Flatz

Journal:

Year:

1989

Language:

english

File:

PDF, 409 KB

english, 1989

11

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

A. Caiulo, B. Bardoni, G. Camerino, S. Guioli, A. Minelli, M. Piantanida, F. Crosato, T. Dalla Fior, P. Maraschio

Journal:

Year:

1989

Language:

english

File:

PDF, 467 KB

english, 1989

12

Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff(Asp256→Val); Pi Mmalton(Phe51→ deletion) and Pi I (Arg39→Cys)

Alexander Graham, Noor A. Kalsheker, Clive R. Newton, Fiona J. Bamforth, Steven J. Powell, Alexander F. Markham

Journal:

Year:

1989

Language:

english

File:

PDF, 617 KB

english, 1989

13

The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on chromosome 22

I. M. Adham, K. -H. Grzeschik, A. H. M. Geurts van Kessel, W. Engel

Journal:

Year:

1989

Language:

english

File:

PDF, 346 KB

english, 1989

14

Isochromosome not translocation in trisomy 21q21q

M. Grasso, M. L. Giovannucci Uzielli, M. Pierluigi, F. Tavellini, L. Perroni, F. Dagna Bricarelli

Journal:

Year:

1989

Language:

english

File:

PDF, 391 KB

english, 1989

15

Haplotype and multipoint linkage analysis in Finnish choroideremia families

Eeva-Marja Sankila, Thomas Lehner, Aldur W. Eriksson, Henrik Forsius, Jussi Kärnä, David Page, Jürg Ott, Albert Chapelle

Journal:

Year:

1989

Language:

english

File:

PDF, 486 KB

english, 1989

16

Cell type-dependent difference in the distribution and frequency of aphidicolin-induced fragile sites: T and B lymphocytes and bone marrow cells

Ichiro Murano, Akira Kuwano, Tadashi Kajii

Journal:

Year:

1989

Language:

english

File:

PDF, 340 KB

english, 1989

17

DNA Fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations

P. Nürnberg, L. Roewer, Heidemarie Neitzel, K. Sperling, Anita Pöpperl, J. Hundrieser, H. Pöche, Conny Epplen, H. Zischler, J. T. Epplen

Journal:

Year:

1989

Language:

english

File:

PDF, 894 KB

english, 1989

18

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

Kenji Naritomi, Yoshinori Izumikawa, Satoshi Ohshiro, Kaoru Yoshida, Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Kiyotake Hirayama

Journal:

Year:

1989

Language:

english

File:

PDF, 250 KB

english, 1989

19

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli

G. Schwanitz, K. Zerres, U. Gembruch, R. Bald, M. Hansmann

Journal:

Year:

1989

Language:

english

File:

PDF, 102 KB

english, 1989

20

Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi

K. Harzer, I. Schuster

Journal:

Year:

1989

Language:

english

File:

PDF, 274 KB

english, 1989

21

A search for restriction fragment length polymorphism on the human Y chromosome

Sibylle Jakubiczka, Joachim Arnemann, Howard J. Cooke, Michael Krawczak, Jörg Schmidtke

Journal:

Year:

1989

Language:

english

File:

PDF, 243 KB

english, 1989

22

Use of transgenic mice for the characterization of human alpha 1-acid glycoprotein (orosomucoid) variants

L. Tomei, C. B. Eap, P. Baumann, L. Dente

Journal:

Year:

1989

Language:

english

File:

PDF, 259 KB

english, 1989

23

Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23–6q24

Maryvonne Coniat, Catherine Alcaide-Loridan, Marc Fellous, Roland Berger

Journal:

Year:

1989

Language:

english

File:

PDF, 220 KB

english, 1989

24

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

Bernd Dworniczak, Christa Aulehla-Scholz, Jürgen Horst

Journal:

Year:

1989

Language:

english

File:

PDF, 271 KB

english, 1989

25

Unusual chromosome 20 anomaly arising “de novo” to give dic(20)qs

Dolores Pimentel, Pilar Alonso, J. A. Abrisqueta

Journal:

Year:

1989

Language:

english

File:

PDF, 188 KB

english, 1989

26

No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H

Journal:

Year:

1989

Language:

english

File:

PDF, 135 KB

english, 1989

27

Reply to letter by J. H. Robbins

Journal:

Year:

1989

Language:

english

File:

PDF, 111 KB

english, 1989

28

Three F XIIIA gene loci?

M. I. Kamboh, R. E. Ferrell

Journal:

Year:

1989

Language:

english

File:

PDF, 82 KB

english, 1989

29

Fragile sites and statistics

Marc Braekeleer

Journal:

Year:

1989

Language:

english

File:

PDF, 62 KB

english, 1989

30

Reply to letter by M. De Braekeleer

Journal:

Year:

1989

Language:

english

File:

PDF, 44 KB

english, 1989

31

Editorial help

Journal:

Year:

1989

File:

PDF, 74 KB

1989

32

Announcements

Journal:

Year:

1989

Language:

english

File:

PDF, 59 KB

english, 1989