Volume 88; Issue 3

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Human Genetics
Volume 88; Issue 3

Human Genetics

Volume 88; Issue 3

1

Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction

Tsang-Ming Ko, Li-Hui Tseng, Fon-Jon Hsieh, Pi-Mei Hsu, Tzu-Yao Lee

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Year:

1992

Language:

english

File:

PDF, 523 KB

english, 1992

2

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Anthonie J. Essen, Stephen Abbs, Montserrat Baiget, Egbert Bakker, Catherine Boileau, Christine Broeckhoven, Kate Bushby, Angus Clarke, Mireille Claustres, Angela E. Covone, Maurizio Ferrari, Alessand

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Year:

1992

Language:

english

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PDF, 903 KB

english, 1992

3

Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands

Anthonie J. Essen, H. F. M. Busch, Gerard J. Meerman, Leo P. Kate

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Year:

1992

Language:

english

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PDF, 990 KB

english, 1992

4

Heterozygote deficiency, population substructure and their implications in DNA fingerprinting

Ranajit Chakraborty, Li Jin

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Year:

1992

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english

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PDF, 707 KB

english, 1992

5

Ewing's tumor X mouse hybrids expressing the MIC2 antigen: analyses using fluorescence CDD-banding and non-isotopic ISH

M. Dworzak, C. Stock, S. Strehl, H. Gadner, P. F. Ambros

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Year:

1992

Language:

english

File:

PDF, 1.24 MB

english, 1992

6

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Karen Stephens, Lucille Kayes, Vincent M. Riccardi, Marcia Rising, Virginia P. Sybert, Roberta A. Pagon

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Year:

1992

Language:

english

File:

PDF, 445 KB

english, 1992

7

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-ΔF508 mutations in German cystic fibrosis patients

Juliane Plieth, Frauke Rininsland, Manfred Schlösser, David N. Cooper, Jochen Reiss

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Year:

1992

Language:

english

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PDF, 797 KB

english, 1992

8

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

K. R. Held, S. Kerber, E. Kaminsky, S. Singh, P. Goetz, E. Seemanova, H. W. Goedde

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Year:

1992

Language:

english

File:

PDF, 556 KB

english, 1992

9

Chromosomal localization of the human glycoasparaginase gene to 4q32–q33

Christine Morris, Nora Heisterkamp, John Groffen, Julian C. Williams, Ilkka Mononen

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Year:

1992

Language:

english

File:

PDF, 268 KB

english, 1992

10

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

Leena Haataja, Johanna Schlentker, Martin Renlund, Aarno Palotie, Leena Peltonen, Pertti Aula

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Year:

1992

Language:

english

File:

PDF, 264 KB

english, 1992

11

Sib pair linkage analysis of renin gene haplotypes in human essential hypertension

Xavier Jeunemaitre, Brigitte Rigat, Anne Charru, Anne-Marie Houot, Florent Soubrier, Pierre Corvol

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Year:

1992

Language:

english

File:

PDF, 640 KB

english, 1992

12

Apolipoprotein E phenotypes and hyperlipidemia in patients under maintenance hemodialysis

Giso Feussner, Stephan Wey, Jürgen Bommer, Dieter Deppermann, Peter Grüitzmacher, Reinhard Ziegler

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Year:

1992

Language:

english

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PDF, 678 KB

english, 1992

13

Cloning of the human α2-macroglobulin gene and detection of mutations in two functional domains: the bait region and the thiolester site

W. Poller, J.-P. Faber, G. Klobeck, K. Olek

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Year:

1992

Language:

english

File:

PDF, 1.10 MB

english, 1992

14

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Samia Boulechfar, Vasco Silva, Jean-Charles Deybach, Yves Nordmann, Bernard Grandchamp, Hubert Verneuil

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Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

15

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

A. J. Richards, J. C. Lloyd, P. Narcisi, P. N. Ward, A. C. Nicholls, A. Paepe, F. M. Pope

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Year:

1992

Language:

english

File:

PDF, 1.08 MB

english, 1992

16

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

Dieuwke B. Dorp, Alan F. Wright, Andrew D. Carothers, Elizabeth M. Bleeker-Wagemakers

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Year:

1992

Language:

english

File:

PDF, 446 KB

english, 1992

17

Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females

Peter J. Follette, Charles D. Laird

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Year:

1992

Language:

english

File:

PDF, 922 KB

english, 1992

18

Distribution of ADH2and ALDH2 genotypes in different populations

H. W. Goedde, D. P. Agarwal, G. Fritze, D. Meier-Tackmann, S. Singh, G. Beckmann, K. Bhatia, L. Z. Chen, B. Fang, R. Lisker, Y. K. Paik, F. Rothhammer, N. Saha, B. Segal, L. M. Srivastava, A. Czeizel

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Year:

1992

Language:

english

File:

PDF, 286 KB

english, 1992

19

Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia

Akira Hirono, Hisaichi Fujii, Kazue Hirono, Hitoshi Kanno, Shiro Miwa

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Year:

1992

Language:

english

File:

PDF, 213 KB

english, 1992

20

Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp

S. Lindsay, D. L. Thiselton, J. B. Bateman, J. T. Ngo, R. S. Sparkes, M. Coleman, K. E. Davies, S. S. Bhattacharya

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Year:

1992

Language:

english

File:

PDF, 233 KB

english, 1992

21

Familial synovial chondromatosis combined with dwarfism

Jochen Felbel, Ursula Gresser, Georg Lohmöller, Nepomuk Zöllner

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Year:

1992

Language:

english

File:

PDF, 1.06 MB

english, 1992

22

A rare genetic variant of the T cell receptor gamma joining segment TRGJI

M. Weill, X. M. Zhang, F. Bernard, G. Lefranc, M.-P. Lefranc

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Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

23

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

N. Morral, E. Girbau, J. Zielenski, V. Nunes, T. Casals, L. -C. Tsui, X. Estivill

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Year:

1992

Language:

english

File:

PDF, 107 KB

english, 1992

24

A possible example of gene conversion with a common β-thalassemia mutation and Chi sequence present in the β-globin gene

Youko Matsuno, Yasuhiro Yamashiro, Kunimitsu Yamamoto, Yukio Hattori, Kiyomi Yamamoto, Yuzo Ohba, Takaoki Miyaji

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Year:

1992

Language:

english

File:

PDF, 171 KB

english, 1992

25

Germinal “mosaicism” — germline mutation or chimerism?

Regine Witkowski

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Year:

1992

Language:

english

File:

PDF, 129 KB

english, 1992

26

Prader-Willi or Angelman syndrome in familial 15q11→q13 deletion of maternal origin?

Albert Schinzel, Wendy P. Robinson, Armand Bottani, Xie Yagang, Andrea Prader

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Year:

1992

Language:

english

File:

PDF, 122 KB

english, 1992

27

Triple trisomy in a spontaneous abortion

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Year:

1992

Language:

english

File:

PDF, 105 KB

english, 1992

28

High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14

K. Stergianou, C. P. Gould, J. J. Waters, M. Hultén

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Year:

1992

Language:

english

File:

PDF, 243 KB

english, 1992

29

Chromosome 15p marker D15Z1 frequently maps to the short arm of other D-group chromosomes

Dominique F. C. M. Smeets, Gerard F. M. Merkx, Anton H. M. Hopman

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Year:

1992

Language:

english

File:

PDF, 73 KB

english, 1992

30

Announcements

Journal:

Year:

1992

Language:

english

File:

PDF, 68 KB

english, 1992

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