Volume 89; Issue 1

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Human Genetics
Volume 89; Issue 1

Human Genetics

Volume 89; Issue 1

1

Intrachromosomal insertions: a case report and a review

K. Madan, F. H. Menko

Journal:

Year:

1992

Language:

english

File:

PDF, 817 KB

english, 1992

2

Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8

Dunne Fong, Marion Man-Ying Chan, Wang-Ting Hsieh, Joan C. Menninger, David C. Ward

Journal:

Year:

1992

Language:

english

File:

PDF, 1.46 MB

english, 1992

3

Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool

Han-Xiang Deng, Koh-ichiro Yoshiura, Roeland W. Dirks, Naoki Harada, Tetsuya Hirota, Kazuhiro Tsukamoto, Yoshihiro Jinno, Norio Niikawa

Journal:

Year:

1992

Language:

english

File:

PDF, 2.76 MB

english, 1992

4

Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei

Darren K. Griffin, Leeanda J. Wilton, Alan H. Handvside, Robert M. L. Winston, Joy D. A. Delhanty

Journal:

Year:

1992

Language:

english

File:

PDF, 2.63 MB

english, 1992

5

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

B. Auwera, N. Roy, A. Paepe, J. R. Hawkins, I. Liebaers, S. Castedo, J. Dumon, F. Speleman

Journal:

Year:

1992

Language:

english

File:

PDF, 2.55 MB

english, 1992

6

Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease

Satoshi Ishii, Hitoshi Sakuraba, Yoshiyuki Suzuki

Journal:

Year:

1992

Language:

english

File:

PDF, 513 KB

english, 1992

7

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

Joëlle Boretto, Anne-Marie Jouanolle, Jacqueline Yaouanq, Abdel Kahloun, Valérie Mauvieux, Martine Blayau, Muriel Perichon, André Treut, John Clayton, Nicolas Borot, Jean-Yves Gall, Pierre Pontarotti,

Journal:

Year:

1992

Language:

english

File:

PDF, 646 KB

english, 1992

8

ααααanti-3.7 type II: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination

M. Angioletti, G. Lacerra, C. Castaldo, R. Cutolo, C. Bonis, G. Buonanno, C. Carestia

Journal:

Year:

1992

Language:

english

File:

PDF, 643 KB

english, 1992

9

Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia

F. Rosselli, J. Sanceau, J. Wietzerbin, E. Moustacchi

Journal:

Year:

1992

Language:

english

File:

PDF, 636 KB

english, 1992

10

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

Dietmar Lohmann, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach, Fritz Heinrich Stefani, Heinz Höfler

Journal:

Year:

1992

Language:

english

File:

PDF, 684 KB

english, 1992

11

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20

Alain Malafosse, Marion Leboyer, Olivier Dulac, Yvonne Navelet, Perrine Plouin, Corinne Beck, Hassan Laklou, Geneviève Mouchnino, Pierre Grandscene, Louis Vallee, Michel Guilloud-Bataille, Daniéle Sam

Journal:

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

12

Allotype distribution of human T cell receptor β and γ chain genes in Caucasians, Asians and Australian Aborigines: Relevance to chronic hepatitis B

Purnomo Soeharso, Kim M. Summers, W. G. E. Cooksley

Journal:

Year:

1992

Language:

english

File:

PDF, 585 KB

english, 1992

13

Cytogenetic, oncogenetic, and histopathologic characteristics of colorectal carcinomas with 17p abnormalities

D. Rau, S. Neubauer, A. Köster, J. Giedl, R. Sachse, S. Landgraf, A. Leipold, T. Dingermann, E. Gebhart

Journal:

Year:

1992

Language:

english

File:

PDF, 427 KB

english, 1992

14

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal

Catherine Caillaud, Laura Vilarinho, Antoine Vilarinho, Françoise Rev, Monique Bertheion, Rosario Santos, Stanislas Lyonnet, Marie-Louise Briard, Rui Osorio, Jean Rev, Arnold Munnich

Journal:

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

15

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome

A. M. Sharkey, L. McLaren, M. Carroll, J. Fantes, D. Green, D. Wilson, P. J. Scambler, H. J. Evans

Journal:

Year:

1992

Language:

english

File:

PDF, 895 KB

english, 1992

16

Assignment of casein kinase 2 alpha sequences to two different human chromosomes

Brigitte Boldyreff, Christine Klett, Elisabeth Göttert, Ad Geurts Kessel, Horst Hameister, Olaf-Georg Issinger

Journal:

Year:

1992

Language:

english

File:

PDF, 338 KB

english, 1992

17

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

M. Braekeleer, P. Hechtman, E. Andermann, F. Kaplan

Journal:

Year:

1992

Language:

english

File:

PDF, 524 KB

english, 1992

18

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

Alexander P. Reiner, Arthur R. Thompson

Journal:

Year:

1992

Language:

english

File:

PDF, 792 KB

english, 1992

19

Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency

Tsuneo Imai, Toshihiko Yanase, Michael R. Waterman, Evan R. Simpson, John J. Pratt

Journal:

Year:

1992

Language:

english

File:

PDF, 369 KB

english, 1992

20

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

D. H. Llewellyn, S. J. Smyth, G. H. Elder, A. C. Hutchesson, J. M. Rattenbury, M. F. Smith

Journal:

Year:

1992

Language:

english

File:

PDF, 215 KB

english, 1992

21

βsHaplotypes in various world populations

Cihan Öner, Aleksandar J. Dimovski, Nancy F. Olivieri, Gino Schiliro, John F. Codrington, Sladdehine Fattoum, Adekunle D. Adekile, Reyhan Öner, Gunes T. Yüregir, C. Altay, A. Gurgey, Rashik B. Gupta,

Journal:

Year:

1992

Language:

english

File:

PDF, 580 KB

english, 1992

22

Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15

Norma Morrison, Craig Simpson, Linda Fothergill-Gilmore, Elizabeth Boyd, J. Michael Connor

Journal:

Year:

1992

Language:

english

File:

PDF, 122 KB

english, 1992

23

The gene for the human IgA Fc receptor maps to 19q13.4

E. J. Kremer, V. Kalatzis, E. Baker, D. F. Callen, G. R. Sutherland, C. R. Maliszewski

Journal:

Year:

1992

Language:

english

File:

PDF, 342 KB

english, 1992

24

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

David Owerbach, Martin B. Draznin, Robert J. Carpenter, Frank Greenberg

Journal:

Year:

1992

Language:

english

File:

PDF, 309 KB

english, 1992

25

Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and thePvuII polymorphism in Southern African populations

Marius J. Coetzee, Sharon C. Bartleet, Michele Ramsay, Trefor Jenkins

Journal:

Year:

1992

Language:

english

File:

PDF, 288 KB

english, 1992

26

Genotype mosaicism in fragile X fetal tissues

Doris Wöhrle, Mark C. Hirst, Ingo Kennerknecht, Kay E. Davies, Peter Steinbach

Journal:

Year:

1992

Language:

english

File:

PDF, 571 KB

english, 1992

27

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

J. Jenderny, J. Gebauer, G. Röhrborn, A. Rüger

Journal:

Year:

1992

Language:

english

File:

PDF, 222 KB

english, 1992

28

Alport syndrome caused by a 5′ deletion within the COL4A5 gene

Alessandra Renieri, Marco Seri, Jeanne C. Myers, Taina Pihlajaniemi, Adalberto Sessa, Gianfranco Rizzoni, Mario Marchi

Journal:

Year:

1992

Language:

english

File:

PDF, 295 KB

english, 1992

29

A rareMspI RFLP of the DMD probe p20 (DXS269)

S. Uhlhaas, E. Bakker, C. Broeckhoven, A. Barth-Schulz, W. Friedl

Journal:

Year:

1992

Language:

english

File:

PDF, 163 KB

english, 1992

30

Highly polymorphic region of the human prothrombin (F2) gene

Hiroyuki Iwahana, Katsuhiko Yoshimoto, Mitsuo Itakura

Journal:

Year:

1992

Language:

english

File:

PDF, 131 KB

english, 1992

31

A comment on the paper: Ovarian dysgenesis in individuals with chromosomal abnormalities, by C. Cunniff, K. Lyons Jones, and K. Benirschke

P. H. Jongbloet

Journal:

Year:

1992

Language:

english

File:

PDF, 88 KB

english, 1992

32

Announcements

Journal:

Year:

1992

Language:

english

File:

PDF, 110 KB

english, 1992