Volume 100; Issue 1

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Human Genetics
Volume 100; Issue 1

Human Genetics

Volume 100; Issue 1

1

Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

Martina Guttenbach, Wolfgang Engel, M. Schmid

Journal:

Year:

1997

Language:

english

File:

PDF, 213 KB

english, 1997

2

Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA–) individuals that result in differing biochemical and metabolic phenotypes

R. Hirschhorn, W. Borkowsky, C.-K. Jiang, D. R. Yang, T. Jenkins

Journal:

Year:

1997

Language:

english

File:

PDF, 83 KB

english, 1997

3

Genetic variations at the T cell receptor γ locus in circulating peripheral blood mononuclear cells of clinically categorised leprosy patients

Geetanjali Sachdeva, Gurvinder Kaur, L. K. Bhutani, R. Bamezai

Journal:

Year:

1997

Language:

english

File:

PDF, 110 KB

english, 1997

4

Search for the optimal fetal cell antibody: results of immunophenotyping studies using flow cytometry

Yun-Ling Zheng, Dong Kai Zhen, Mary Ann DeMaria, Stanley M. Berry, Ronald J. Wapner, Mark I. Evans, Diane Copeland, John M. Williams, D. W. Bianchi

Journal:

Year:

1997

Language:

english

File:

PDF, 99 KB

english, 1997

5

Association of polymorphism at COL3A and CTLA4 loci on chromosome 2q31-33 with the clinical phenotype and in-vitro CMI status in healthy and leprosy subjects: a preliminary study

Gurvinder Kaur, Geetanjali Sachdeva, L. K. Bhutani, R. Bamezai

Journal:

Year:

1997

Language:

english

File:

PDF, 122 KB

english, 1997

6

Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis

F. Petry, A. Izzet Berkel, Michael Loos

Journal:

Year:

1997

Language:

english

File:

PDF, 149 KB

english, 1997

7

Molecular basis of the apolipoprotein H (β2-glycoprotein I) protein polymorphism

Dharambir K. Sanghera, Torsten Kristensen, Richard F. Hamman, M. I. Kamboh

Journal:

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

8

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families

Gunnel Lundin, Jin-Sung Lee, Stig Thunell, M. Anvret

Journal:

Year:

1997

Language:

english

File:

PDF, 33 KB

english, 1997

9

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

H. Kehrer-Sawatzki, Martin Udart, Winfrid Krone, Reinhard Baden, Raimund Fahsold, Gilles Thomas, Beatrice Schmucker, Günter Assum

Journal:

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

10

Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

B. Cormand, Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, D. Grinberg

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

11

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

T. Lauteala, Nina Horelli-Kuitunen, Ellen Closs, Marja-Liisa Savontaus, Mari Lukkarinen, Olli Simell, James Cunningham, Aarno Palotie, Pertti Aula

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

12

The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes

Alfredo Brusco, Fernanda Cinque, Silvia Saviozzi, Cleide Boccazzi, Mario DeMarchi, A. O. Carbonara

Journal:

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

13

Identification of novel ‘expressed sequence tags’ within the FHIT gene locus in human chromosome region 3p14.2

Andreas Lux, Walter Bardenheuer, Dagmar Michael, Frank Bröcker, K. Jülicher, Lydia Vieten, Susanne Michaelis, Siegfried Seeber, Bertram Opalka, J. Schütte

Journal:

Year:

1997

Language:

english

File:

PDF, 99 KB

english, 1997

14

Discriminating between allelic and interlocus differences among human immunoglobulin VH4 sequences by analyzing single spermatozoa

Xiangfeng Cui, H. Li

Journal:

Year:

1997

Language:

english

File:

PDF, 52 KB

english, 1997

15

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

M. J. Kotze, J. Nico P. de Villiers, Odell Loubser, Rochelle Thiart, Charlotte L. Scholtz, Frederick J. Raal

Journal:

Year:

1997

Language:

english

File:

PDF, 39 KB

english, 1997

16

An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene

Barbara A. Fernie, M. J. Hobart

Journal:

Year:

1997

Language:

english

File:

PDF, 100 KB

english, 1997

17

Regional distribution of β-thalassemia mutations in India

I. C. Verma, R. Saxena, E. Thomas, Pawan K. Jain

Journal:

Year:

1997

Language:

english

File:

PDF, 47 KB

english, 1997

18

cDNAs with long CAG trinucleotide repeats from human brain

Russell L. Margolis, Meena R. Abraham, Shawn B. Gatchell, Shi-Hua Li, Arif S. Kidwai, Theresa S. Breschel, O. Colin Stine, Colleen Callahan, Melvin G. McInnis, Christopher A. Ross

Journal:

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

19

Mutation and haplotype analyses of the Werner’s syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population

Takehisa Matsumoto, Osamu Imamura, Yukako Yamabe, Junro Kuromitsu, Yoshiki Tokutake, Akira Shimamoto, Noriyuki Suzuki, Misako Satoh, Saori Kitao, Koji Ichikawa, Hiroshi Kataoka, Kahori Sugawara, Winst

Journal:

Year:

1997

Language:

english

File:

PDF, 75 KB

english, 1997

20

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families

R. S. Ramesar, Soraya Bardien, Peter Beighton, Alan Bryer

Journal:

Year:

1997

Language:

english

File:

PDF, 89 KB

english, 1997

21

Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping

Heather Mefford, G. van den Engh, Cynthia Friedman, B. J. Trask

Journal:

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

22

Microsatellite polymorphism in the human heme oxygenase-1 gene promoter and its application in association studies with Alzheimer and Parkinson disease

Teiko Kimpara, A. Takeda, Koichi Watanabe, Yasuto Itoyama, Shuntaro Ikawa, Minro Watanabe, Hiroyuki Arai, Hidetada Sasaki, Susumu Higuchi, Naoshi Okita, Sadao Takase, Hiroshi Saito, Kazuhiro Takahashi

Journal:

Year:

1997

Language:

english

File:

PDF, 28 KB

english, 1997