Volume 82; Issue 4

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Human Genetics
Volume 82; Issue 4

Human Genetics

Volume 82; Issue 4

1

Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia

Katriina Aalto-Setälä, Helena Gylling, Eero Helve, Petri Kovanen, Tatu A. Miettinen, Hannu Turtola, Kimmo Kontula

Journal:

Year:

1989

Language:

english

File:

PDF, 386 KB

english, 1989

2

The problem of our common mitochondrial mother

J. Krüger, F. Vogel

Journal:

Year:

1989

Language:

english

File:

PDF, 577 KB

english, 1989

3

Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome

Kyohko Abe, Tadashi Kajii, Norio Niikawa

Journal:

Year:

1989

Language:

english

File:

PDF, 370 KB

english, 1989

4

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia

Kimiko Yamakawa, Kohki Takada, Hisako Yanagi, Shigeru Tsuchiya, Koichi Kawai, Soichi Nakagawa, Goro Kajiyama, Hideo Hamaguchi

Journal:

Year:

1989

Language:

english

File:

PDF, 587 KB

english, 1989

5

Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels

Chunfang Xu, Nazeem Nanjee, Matti J. Tikkanen, Jussi K. Huttunen, Pirjo Pietinen, Rene Bütler, Franco Angelico, Maria Del Ben, B. Mazzarella, R. Antonio, Norman G. Miller, Steve Humphries, Philippa J.

Journal:

Year:

1989

Language:

english

File:

PDF, 580 KB

english, 1989

6

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome

H. -J. Lüdecke, Ruth Burdiek, Gabriele Senger, U. Claussen, E. Passarge, B. Horsthemke

Journal:

Year:

1989

Language:

english

File:

PDF, 267 KB

english, 1989

7

Fragile sites and breakpoints in constitutional rearrangements and in human sperm chromosomes

C. Fuster, R. Miró, C. Templado, L. Barrios, V. Moreno, J. Egozcue

Journal:

Year:

1989

Language:

english

File:

PDF, 431 KB

english, 1989

8

A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the β-globin cluster

G. Martinez, A. Novelletto, A. Rienzo, L. Felicetti, B. Colombo

Journal:

Year:

1989

Language:

english

File:

PDF, 257 KB

english, 1989

9

Chromosomal localization of human glutathione transferase genes of classes alpha, mu and pi

M. Quamrul Islam, Anton Platz, Josiane Szpirer, Claude Szpirer, Göran Levan, Bengt Mannervik

Journal:

Year:

1989

Language:

english

File:

PDF, 556 KB

english, 1989

10

Chromosomal characteristics of malignant lymphoma

E. W. Fleischman, E. L. Prigogina, G. W. Ilynskaya, N. A. Probatova, L. N. Konstantinova, G. V. Kruglova, M. A. Volkova, D. S. Osmanov

Journal:

Year:

1989

Language:

english

File:

PDF, 560 KB

english, 1989

11

Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq

James C. Skare, John L. Sullivan, Aubrey Milunsky

Journal:

Year:

1989

Language:

english

File:

PDF, 367 KB

english, 1989

12

Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37

James C. Skare, Helen L. Grierson, John L. Sullivan, Robert L. Nussbaum, David T. Purtilo, Bakary S. Sylla, Gilbert M. Lenon, Dorothy S. Reilly, Bradley N. White, Aubrey Milunsky

Journal:

Year:

1989

Language:

english

File:

PDF, 357 KB

english, 1989

13

Hungarian surveillance of germinal mutations

Journal:

Year:

1989

Language:

english

File:

PDF, 780 KB

english, 1989

14

MASA syndrome: further clinical delineation and chromosomal localisation

Robin M. Winter, Kay E. Davies, Martyn V. Bell, Susan M. Huson, Mark N. Patterson

Journal:

Year:

1989

Language:

english

File:

PDF, 343 KB

english, 1989

15

The gene for human interleukin 7 (IL7) is at 8q12-13

Grant R. Sutherland, Elizabeth Baker, K. E. W. Fernandez, D. F. Callen, Raymond G. Goodwin, Stephen Lupton, Anthony E. Namen, M. Frances Shannon, Matthew A. Vadas

Journal:

Year:

1989

Language:

english

File:

PDF, 137 KB

english, 1989

16

The predictive value of chorionic villus histology for identifying chromosomally normal and abnormal spontaneous abortions

Carmen Minguillon, Bernd Eiben, Susan Bähr-Porsch, Martin Vogel, Ingo Hansmann

Journal:

Year:

1989

Language:

english

File:

PDF, 416 KB

english, 1989

17

Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?

Helga Rehder, Wiltrud Coerdt, Reinhard Eggers, Franz Klink, Eberhard Schwinger

Journal:

Year:

1989

Language:

english

File:

PDF, 1.06 MB

english, 1989

18

Inactivated X chromosome fold in human leukemia and related clonal disorders

M. R. Avalos, C. Léonard, F. Mielot, G. Tchernia

Journal:

Year:

1989

Language:

english

File:

PDF, 251 KB

english, 1989

19

Detection of β-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique

Pranee Winichagoon, Jiraporn Kownkon, Pathai Yenchitsomanus, Varaporn Thonglairoam, Nopadol Siritanaratkul, Suthat Fucharoen

Journal:

Year:

1989

Language:

english

File:

PDF, 222 KB

english, 1989

20

Tissue-specific 45,X0/47,XY,+13 mosaicism in an 18-year-old woman

B. Eiben, S. Hansen, R. Goebel, W. Hammans

Journal:

Year:

1989

Language:

english

File:

PDF, 126 KB

english, 1989

21

A new polymorphic variant of human complement factor I

Ming Zhou, Bodil Larsen

Journal:

Year:

1989

Language:

english

File:

PDF, 85 KB

english, 1989

22

Gene symbols for fragile sites: a proposal

Frederick Hecht, Linda A. Cannizzaro, Barbara K. Hecht

Journal:

Year:

1989

Language:

english

File:

PDF, 98 KB

english, 1989

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