Volume 92; Issue 1

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Human Genetics
Volume 92; Issue 1

Human Genetics

Volume 92; Issue 1

1

The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting

T. Ohta, T. Tohma, H. Soejima, Y. Fukushima, T. Nagai, K. Yoshiura, Y. Jinno, N. Niikawa

Journal:

Year:

1993

Language:

english

File:

PDF, 2.40 MB

english, 1993

2

Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation — FH469→Stop

Trond P. Leren, Kari Solberg, Olaug K. Rødningen, Oddveig Røsby, Serena Tonstad, Leiv Ose, Kåre Berg

Journal:

Year:

1993

Language:

english

File:

PDF, 1.42 MB

english, 1993

3

Rearrangements between irradiated chromosomes in three-species radiation hybrid cell lines revealed by two-color in situ hybridization

C. Philippe, V. C. Nguyen, R. Slim, L. Holvoet-Vermaut, M. C. Hors-Cayla, A. Bernheim

Journal:

Year:

1993

Language:

english

File:

PDF, 6.10 MB

english, 1993

4

Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH)

M. E. Phipps, E. R. Maher, N. A. Affara, F. Latif, M. A. Leversha, M. E. Ferguson-Smith, Y. Nakamura, M. Lerman, B. Zbar, M. A. Ferguson-Smith

Journal:

Year:

1993

Language:

english

File:

PDF, 1.92 MB

english, 1993

5

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability

Annalisa Pezzolo, Giorgio Gimelli, Amnon Cohen, Antonella Lavaggetto, Cesare Romano, Giuseppina Fogu, Orsetta Zuffardi

Journal:

Year:

1993

Language:

english

File:

PDF, 1.02 MB

english, 1993

6

Meiotic recombination in an Irish family with beta-thalassaemia

Georgina W. Hall, Maurizio Sampietro, Rebecca Barnetson, Joan Fitzgerald, Shaun McCann, SweeLay Thein

Journal:

Year:

1993

Language:

english

File:

PDF, 766 KB

english, 1993

7

Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study

Burkhard J. Manfras, Michael Swinyard, William A. Rudert, Edward J. Ball, Peter A. Lee, Peter Kühnl, Massimo Trucco, Bernhard O. Böhm

Journal:

Year:

1993

Language:

english

File:

PDF, 704 KB

english, 1993

8

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events

O. Knobloch, B. Zoll, K. Zerres, H. -H. Brackmann, K. Olek, M. Ludwig

Journal:

Year:

1993

Language:

english

File:

PDF, 788 KB

english, 1993

9

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

Toshinobu Matsuura, Ryuuji Hoshide, Chiaki Setoyama, Kazunori Shimada, Yutaka Hase, Toshihiko Yanagawa, Mitsuharu Kajita, Ichiro Matsuda

Journal:

Year:

1993

Language:

english

File:

PDF, 1.19 MB

english, 1993

10

No relationship between genetic instability in Bloom's syndrome and DNA hypomethylation of some major repetitive sequences

P. Noguiez, C. Jaulin, F. Praz, M. Khelil, M. Jeanpierre, E. Viegas-Pequignot, M. Amor-Gueret

Journal:

Year:

1993

Language:

english

File:

PDF, 620 KB

english, 1993

11

G2 phase cell cycle disturbance as a manifestation of genetic cell damage

Helga Seyschab, Yujie Sun, Richard Friedl, Detlev Schindler, Holger Hoehn

Journal:

Year:

1993

Language:

english

File:

PDF, 772 KB

english, 1993

12

The human complement component C8B gene: structure and phylogenetic relationship

Thomas Kaufmann, Christian Rittner, Peter M. Schneider

Journal:

Year:

1993

Language:

english

File:

PDF, 1.36 MB

english, 1993

13

Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis

Kimiko Yamakawa-Kobayashi, Tsutomu Kobayashi, Takashi Obara, Hideo Hamaguchi

Journal:

Year:

1993

Language:

english

File:

PDF, 320 KB

english, 1993

14

Alpha-thalassemia in the four major aboriginal groups in Taiwan

Tsang-Ming Ko, Tai-Ann Chen, Mei-Ing Hsieh, Li-Hui Tseng, Fon-Jou Hsieh, Sou-Ming Chuang, Tzu-Yao Lee

Journal:

Year:

1993

Language:

english

File:

PDF, 203 KB

english, 1993

15

Genetic variation in transforming growth factor alpha: possible association ofBamHI polymorphism with bilateral sporadic cleft lip and palate

C. Stoll, J. F. Qian, J. Feingold, P. Sauvage, E. May

Journal:

Year:

1993

Language:

english

File:

PDF, 181 KB

english, 1993

16

Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome

Ana Santos, Leonor Osorio-Almeida, Paul N. Baird, Jorge M. Silva, Maria G. Boavida, John Cowell

Journal:

Year:

1993

Language:

english

File:

PDF, 730 KB

english, 1993

17

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

Edwin C. M. Mariman, Anneke A. W. M. Gabreëls-Festen, Sylvia E. C. Beersum, Peter J. H. Jongen, Hans-Hilger Ropers, Fons J. M. Gabreëls

Journal:

Year:

1993

Language:

english

File:

PDF, 338 KB

english, 1993

18

Absence of linkage to the ataxia telangiectasia locus in familial breast cancer

Richard Wooster, Deborah Ford, Jonathan Mangion, Bruce A. J. Ponder, Julian Peto, Douglas F. Easton, Michael R-Stratton

Journal:

Year:

1993

Language:

english

File:

PDF, 435 KB

english, 1993

19

Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus

David Vetrie, David Bentley, Martin Bobrow, Ann Harris

Journal:

Year:

1993

Language:

english

File:

PDF, 601 KB

english, 1993

20

PCR-based detection of oneBamHI polymorphic site in the human T cell receptor delta gene TCRDV2

X. M. Zhang, M. -P. Lefranc

Journal:

Year:

1993

Language:

english

File:

PDF, 89 KB

english, 1993

21

High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

Yukihiko Mashima, Yoshiki Hiida, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu

Journal:

Year:

1993

Language:

english

File:

PDF, 127 KB

english, 1993

22

Identification of a novel T-insertion polymorphism at the DMD locus

F. Muntoni, M. Cau, R. Congiu, M. Congia, A. Cao, M. A. Melis

Journal:

Year:

1993

Language:

english

File:

PDF, 145 KB

english, 1993

23

Prothymosin α gene in humans: organization of its promoter region and localization to chromosome 2

P. Szabo, C. Panneerselvam, M. Clinton, M. Frangou-Lazaridis, D. Weksler, E. Whittington, M. J. Macera, K. -H. Grzeschik, A. Selvakumar, B. L. Horecker

Journal:

Year:

1993

Language:

english

File:

PDF, 31 KB

english, 1993

24

The immunoglobulin κ locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals

Gudrun Schaible, Gudrun A. Rappold, Walter Pargent, Hans G. Zachau

Journal:

Year:

1993

File:

PDF, 18 KB

1993

25

Announcements

Journal:

Year:

1993

Language:

english

File:

PDF, 96 KB

english, 1993

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