Volume 94; Issue 1

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Human Genetics
Volume 94; Issue 1

Human Genetics

Volume 94; Issue 1

1

Toward the complete genomic map and molecular pathology of human chromosome 4

Olaf Rieß, Birgit Winkelmann, Jörg T. Epplen

Journal:

Year:

1994

Language:

english

File:

PDF, 1.97 MB

english, 1994

2

Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population

U. Jung, U. Urner, K. Grade, C. Coutelle

Journal:

Year:

1994

Language:

english

File:

PDF, 862 KB

english, 1994

3

Proceed with much more caution

Jörg Schmidtke

Journal:

Year:

1994

Language:

english

File:

PDF, 419 KB

english, 1994

4

Proceed with caution — but proceed!

Journal:

Year:

1994

Language:

english

File:

PDF, 357 KB

english, 1994

5

Parental origin of germ-line and somatic mutations in the retinoblastoma gene

Mitsuo V. Kato, Kanji Ishizaki, Takashi Shimizu, Yosuke Ejima, Hiroshi Tanooka, Jun Takayama, Akihiro Kaneko, Junya Toguchida, Masao S. Sasaki, M. V. Kato

Journal:

Year:

1994

Language:

english

File:

PDF, 839 KB

english, 1994

6

The polymorphism of the plasma inter-α-trypsin inhibitor (ITI) and its relationship to the heavy chain H1 subunit gene (ITIH1) at 3p211-212

Ulrike Vogt, Richard Sesboüé, Jeannette Bourguignon, Maryam Diarra-Mehrpour, Jean-Pierre Martin, Hartwig Cleve

Journal:

Year:

1994

Language:

english

File:

PDF, 722 KB

english, 1994

7

Genetic polymorphisms of the CST2 locus coding for cystatin SA

Masuro Shintani, Kiyoshi Minaguchi, Satoko Isemura, Eiichi Saitoh, Kazuo Sanada, Toshihiko Semba

Journal:

Year:

1994

Language:

english

File:

PDF, 713 KB

english, 1994

8

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

Anna Wedell, Barbro Stengler, Holger Luthman

Journal:

Year:

1994

Language:

english

File:

PDF, 627 KB

english, 1994

9

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene

Christopher J. Danpure, Graeme M. Birdsey, Gillian Rumsby, Michael J. Lumb, P. Edward Purdue, Jennifer Allsop

Journal:

Year:

1994

Language:

english

File:

PDF, 1.23 MB

english, 1994

10

Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene

Thierry Bienvenu, Dominique Hubert, Nuria Fonknechten, Daniel Dusser, Jean Claude Kaplan, Cherif Beldjord

Journal:

Year:

1994

Language:

english

File:

PDF, 528 KB

english, 1994

11

Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI

N. Haber, D. Stengel, N. Defer, N. Roeckel, M. -G. Mattei, J. Hanoune

Journal:

Year:

1994

Language:

english

File:

PDF, 610 KB

english, 1994

12

Supernumerary chromosomes and spermatogenesis in a human male carrier

H. Jaafar, O. Gabriel-Robez, F. Vignon, E. Flori, Y. Rumpler

Journal:

Year:

1994

Language:

english

File:

PDF, 436 KB

english, 1994

13

Identification of deletions in thebtkgene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia

Ruth C. Lovering, Angela Sweatman, Sally A. Genet, Helen R. Middleton-Price, David Vetrie, Igor Vorechovsky, David Bentley, Gumersindo Fontan, Teresa Español, Gareth Morgan, Roland J. Levinsky, Christ

Journal:

Year:

1994

Language:

english

File:

PDF, 416 KB

english, 1994

14

Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans

Valery Kukharenko, Svetlana Sheleg, Mikhail Freudine, Elena Pichugina, Alexander Delvig

Journal:

Year:

1994

Language:

english

File:

PDF, 278 KB

english, 1994

15

A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron

Federico Galvagni, Fawzy A. Saad, Gian Antonio Danieli, Marta Miorin, Libero Vitiello, Maria Luisa Mostacciuolo, Corrado Angelini

Journal:

Year:

1994

Language:

english

File:

PDF, 555 KB

english, 1994

16

Single base pair germ-line deletion in the p53 gene in a cancer predisposed family

Richard Hamelin, Fernande Barichard, Isabelle Henry, Claudine Junien, Gilles Thomas

Journal:

Year:

1994

Language:

english

File:

PDF, 291 KB

english, 1994

17

A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)

E. Burkhardt, I. M. Adham, U. Hobohm, D. Murphy, C. Sander, W. Engel

Journal:

Year:

1994

Language:

english

File:

PDF, 461 KB

english, 1994

18

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly

Anne Mantel, Claude Leonard, Béatrice Husson, Najoua Miladi, Marc Tardieu, Pierre Landrieu

Journal:

Year:

1994

Language:

english

File:

PDF, 285 KB

english, 1994

19

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

Sven Hoffmeyer, Günter Assum, Dieter Kaufmann, Kirsten Schwenk, Winfrid Krone

Journal:

Year:

1994

Language:

english

File:

PDF, 508 KB

english, 1994

20

A novel mosaic Bantu/Benin/Bantu βshaplotype found in several African populations

Isabel Gonçalves, João Gonçalves, Bruno Périchon, Leonor Osório-Almeida, Rajagopal Krishnamoorthy, João Lavinha

Journal:

Year:

1994

Language:

english

File:

PDF, 337 KB

english, 1994

21

Clinical Case Report

Journal:

Year:

1994

Language:

english

File:

PDF, 362 KB

english, 1994

22

BamHI restriction fragment length polymorphism (RFLP) at the human GST3 gene locus

Ajay Kumar, B. C. Das, J. K. Sharma

Journal:

Year:

1994

Language:

english

File:

PDF, 183 KB

english, 1994

23

Dinucleotide repeat polymorphism at 11q23

Milhan Telatar, Pat Concannon, Ashhan Tolun

Journal:

Year:

1994

Language:

english

File:

PDF, 178 KB

english, 1994

24

Announcements

Journal:

Year:

1994

Language:

english

File:

PDF, 80 KB

english, 1994

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