Volume 86; Issue 2

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Human Genetics
Volume 86; Issue 2

Human Genetics

Volume 86; Issue 2

1

Nuclear architecture of human pachytene spermatocytes: quantitative analysis of associations between nucleolar and XY bivalents

Soledad Berrios, Raúl Fernández-Donoso

Journal:

Year:

1990

Language:

english

File:

PDF, 4.39 MB

english, 1990

2

Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia

N. Ghanem, J. M. Lobaccaro, C. Buresi, M. Abbal, G. Halaby, C. Sultan, G. Lefranc

Journal:

Year:

1990

Language:

english

File:

PDF, 922 KB

english, 1990

3

The 60 and 63 kDa proteolytic peptides of the red cell membrane band-3 protein: their prevalence in human and non-human primates

Marcos Palatnik, Maria Lucia Marti Silva Simões, Zoraide Maia Salomão Alves, Nanci Souto Maior Laranjeira

Journal:

Year:

1990

Language:

english

File:

PDF, 769 KB

english, 1990

4

In search of a genetic basis for the Rett syndrome

Paulo S. Martinho, Priscila G. Otto, Fernando Kok, Aron Diament, Maria J. Marques-Dias, Claudette Hajaj Gonzalez

Journal:

Year:

1990

Language:

english

File:

PDF, 432 KB

english, 1990

5

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

M. Gessler, H. Hameister, I. Henry, C. Junien, T. Braun, H. H. Arnold

Journal:

Year:

1990

Language:

english

File:

PDF, 571 KB

english, 1990

6

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

F. R. Rosendaal, A. H. J. T. Bröcker-Vriends, J. C. Houwelingen, C. Smit, I. Varekamp, H. Dijck, T. P. B. M. Suurmeijer, J. P. Vandenbroucke, E. Briët

Journal:

Year:

1990

Language:

english

File:

PDF, 906 KB

english, 1990

7

Cytogenetic and molecular analysis of a Yq isochromosome

Martina Guttenbach, Ulrich Müller, Michael Schmid

Journal:

Year:

1990

Language:

english

File:

PDF, 835 KB

english, 1990

8

Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA

C. Diatloff-Zito, F. Rosselli, J. Heddle, E. Moustacchi

Journal:

Year:

1990

Language:

english

File:

PDF, 1.20 MB

english, 1990

9

Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

M. R. Guichaoua, B. Quack, R. M. Speed, B. Noel, A. C. Chandley, J. M. Luciani

Journal:

Year:

1990

Language:

english

File:

PDF, 938 KB

english, 1990

10

Assignment of human tracheobronchial mucin gene(s) to 11p15 and a tracheobronchial mucin-related sequence to chromosome 13

Nguyen Cong, J. P. Aubert, M. S. Gross, N. Porchet, P. Degand, J. Frézal

Journal:

Year:

1990

Language:

english

File:

PDF, 817 KB

english, 1990

11

Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes

Swetlana G. Vorsanova, Y. B. Yurov, M. B. Kurbatov, L. Z. Kazantzeva

Journal:

Year:

1990

Language:

english

File:

PDF, 189 KB

english, 1990

12

Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant

Ariella Oppenheim, Avi Yaari, Deborah Rund, Eliezer A. Rachmilewitz, David Nathan, Corinne Wong, Haig H. Kazazian, Barbara Miller

Journal:

Year:

1990

Language:

english

File:

PDF, 856 KB

english, 1990

13

Analysis of gene-dosage effects on the expression of CD18 by trisomy 21 lymphoblastoid cell-lines using a statistical model to fit flow cytometry profiles

W. G. Bardsley, B. P. McMurray, A. Robson, S. D'Souza, G. M. Taylor

Journal:

Year:

1990

Language:

english

File:

PDF, 570 KB

english, 1990

14

Assignment of the gene for central core disease to chromosome 19

Eric A. Haan, C. Jane Freemantle, Jill A. McCure, Katherine L. Friend, John C. Mulley

Journal:

Year:

1990

Language:

english

File:

PDF, 307 KB

english, 1990

15

Multiple levels of analysis of an IGHG4 gene deletion

Andrea Bottaro, Umberto Cariota, Gerda G. deLange, Mario DeMarchi, Roberto Gallina, Salvatore Oliviero, Arjen Vlug, Angelo O. Carbonara

Journal:

Year:

1990

Language:

english

File:

PDF, 811 KB

english, 1990

16

Changing paternal age distribution and the human mutation rate in Europe

Bernadette Modell, Anver Kuliev

Journal:

Year:

1990

Language:

english

File:

PDF, 480 KB

english, 1990

17

Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families?

Catherine Bonaïti-Pellié, Françoise Clerget-Darpoux, Marie-Claude Babron

Journal:

Year:

1990

Language:

english

File:

PDF, 789 KB

english, 1990

18

Association analysis of lipid levels and apolipoprotein restriction fragment length polymorphisms

Ola Myklebost, Sissel Rogne, Ingvar Hjermann, Bjørnar Olaisen, Hans Prydz

Journal:

Year:

1990

Language:

english

File:

PDF, 623 KB

english, 1990

19

Heterozygous expression of X-linked chondrodysplasia punctata

Doris Wöhrle, Gotthold Barbi, Wolfgang Schulz, Peter Steinbach

Journal:

Year:

1990

Language:

english

File:

PDF, 642 KB

english, 1990

20

The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

D. S. Millar, R. A. Steinbrecher, K. Wieland, C. B. Grundy, U. Martinowitz, M. Krawczak, B. Zoll, D. Whitmore, J. Stephenson, R. S. Mibashan, V. V. Kakkar, D. N. Cooper

Journal:

Year:

1990

Language:

english

File:

PDF, 1.12 MB

english, 1990

21

A recombination map of the human X-chromosome

R. G. Mastro, P. A. Farndon, Michael W. Kilpatrick

Journal:

Year:

1990

Language:

english

File:

PDF, 281 KB

english, 1990

22

Abnormal hemoglobins in the Silk Road region of China

Hou-jun Li, Xian-ning Zhao, Fan Qin, Hui-wu Li, Li Li, Xiao-jun He, Xiao-su Chang, Zhe-meng Li, Ke-xing Liang, Fa-li Xing, Wen-sun Chang, Ru-zhau Wong, Iu-li Yang, Fen-sheng Li, Tuen-tian Zhang, Ri-ju

Journal:

Year:

1990

Language:

english

File:

PDF, 517 KB

english, 1990

23

The major cystic fibrosis mutation in a British population

C. J. McMahon, S. A. Genet, H. R. Middleton-Price, P. Rutland, M. E. Pembrey, S. Malcolm

Journal:

Year:

1990

Language:

english

File:

PDF, 152 KB

english, 1990

24

The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

I. Kennerknecht, T. Suormala, G. Barbi, E. R. Baumgartner

Journal:

Year:

1990

Language:

english

File:

PDF, 211 KB

english, 1990

25

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

Mireille Claustres, Paule Kjellberg, Marie Desgeorges, Hélène Bellet, Jacques Demaille

Journal:

Year:

1990

Language:

english

File:

PDF, 216 KB

english, 1990

26

BglII restriction fragment length polymorphisms at the human p53 gene locus

Umesh Masharani, David Wolf

Journal:

Year:

1990

Language:

english

File:

PDF, 128 KB

english, 1990

27

Editorial help

Journal:

Year:

1990

Language:

english

File:

PDF, 90 KB

english, 1990

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