Volume 85; Issue 1

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Human Genetics
Volume 85; Issue 1

Human Genetics

Volume 85; Issue 1

1

Application of the polymerase chain reaction to the diagnosis of human genetic disease

Jochen Reiss, David N. Cooper

Journal:

Year:

1990

Language:

english

File:

PDF, 968 KB

english, 1990

2

Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A — mutation

Ernest Beutler, Wanda Kuhl

Journal:

Year:

1990

Language:

english

File:

PDF, 288 KB

english, 1990

3

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17

S.-M. Pulst, J. M. Graham, P. Fain, D. Barker, T. Pribyl, J. R. Korenberg

Journal:

Year:

1990

Language:

english

File:

PDF, 322 KB

english, 1990

4

Paracentric inversion inv(11) (q21q23) in the Netherlands

K. Madan, M. H. E. C. Pieters, L. P. Kuyt, C. J. Asperen, J. M. Pater, A. J. H. Hamers, K. B. J. Gerssen-Schoorl, T. W. J. Hustinx, A. S. P. M. Breed, J. O. Hemel, D. F. C. M. Smeets

Journal:

Year:

1990

Language:

english

File:

PDF, 529 KB

english, 1990

5

Constitutional deletions predisposing to retinoblastoma

Marie Janson, Erik Kock, Magnus Nordenskjöld

Journal:

Year:

1990

Language:

english

File:

PDF, 532 KB

english, 1990

6

A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes

H. -M. Yang, T. Lund, E. Niebuhr, S. Nørby, M. Schwartz, L. Shen

Journal:

Year:

1990

Language:

english

File:

PDF, 761 KB

english, 1990

7

Louis-Bar syndrome: spontaneous and induced chromosomal aberrations in lymphocytes and micronuclei in lymphocytes, oral mucosa and hair root cells

Rosella Tomanin, Franco Sarto, Daniela Mazzotti, Luciano Giacomelli, Franca Raimondi, Carlo Trevisan

Journal:

Year:

1990

Language:

english

File:

PDF, 729 KB

english, 1990

8

Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3→qter)

Tadao Arinami, Takeki Hirano, Kimiko Kobayashi, Yasuko Yamanouchi, Hideo Hamaguchi

Journal:

Year:

1990

Language:

english

File:

PDF, 246 KB

english, 1990

9

On-line sorting of human chromosomes by centromeric index, and identification of sorted populations by GTG-banding and fluorescent in situ hybridization

Gert A. Boschman, Wim Rens, Eric Manders, Carel Oven, Gerrit W. Barendsen, Jacob A. Aten

Journal:

Year:

1990

Language:

english

File:

PDF, 1.12 MB

english, 1990

10

Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature

Franck Pellestor

Journal:

Year:

1990

Language:

english

File:

PDF, 759 KB

english, 1990

11

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

David N. Cooper, Michael Krawczak

Journal:

Year:

1990

Language:

english

File:

PDF, 2.12 MB

english, 1990

12

The analysis of hypervariable DNA profiles: problems associated with the objective determination of the probability of a match

Peter Gill, Kevin Sullivan, David J. Werrett

Journal:

Year:

1990

Language:

english

File:

PDF, 661 KB

english, 1990

13

Inv(14) with distal breakpoint in 14q32.1 in three cases of T cell lymphoma

Brigitte Schlegelberger, Alfred C. Feller, Hans-Heinrich Wacker, Jürgen Lohmeyer, Werner Grote

Journal:

Year:

1990

Language:

english

File:

PDF, 1.05 MB

english, 1990

14

Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome

Durval Damiani, Ana Elisa C. Billerbeck, Anna Carla K. Goldberg, Nuvarte Setian, Marc Fellous, Jorge Kalil

Journal:

Year:

1990

Language:

english

File:

PDF, 435 KB

english, 1990

15

Albumin — vitamin D-binding protein haplotypes in Asian-Pacific populations

Liang Zhong Chen, Simon Easteal, Philip G. Board, Kim M. Summers, Kuldeep K. Bhatia, Robert L. Kirk

Journal:

Year:

1990

Language:

english

File:

PDF, 785 KB

english, 1990

16

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia

Julie Wallis, Robert Williamson, Susan Chamberlain

Journal:

Year:

1990

Language:

english

File:

PDF, 319 KB

english, 1990

17

Loss of heterozygosity of the L-myc oncogene in human breast tumors

Ivan Bieche, Marie-Helene Champeme, Giorgio Merlo, Christian-Jacques Larsen, Robert Callahan, Rosette Lidereau

Journal:

Year:

1990

Language:

english

File:

PDF, 622 KB

english, 1990

18

Fetal hemoglobin in normal adults and β-thalassemia heterozygotes

Abdullah Kutlar, Ferdane Kutlar, Li-Ghao Gu, Sylvia M. Mayson, Titus H. J. Huisman

Journal:

Year:

1990

Language:

english

File:

PDF, 559 KB

english, 1990

19

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

Thomas R. Skopek, Leslie Recio, Deborah Simpson, Louis Dallaire, Serge B. Melancon, Helene Ogier, J. Patrick O'Neill, Michael T. Falta, Janice A. Nicklas, Richard J. Albertini

Journal:

Year:

1990

Language:

english

File:

PDF, 651 KB

english, 1990

20

DXS26 (HU16) is located in Xq21.1

Eeva-Marja Sankila, Gail A. P. Bruns, Marianne Schwartz, Eeva Nikoskelainen, Erik Niebuhr, Shirley V. Hodgson, Alan F. Wright, Albert Chapelle

Journal:

Year:

1990

Language:

english

File:

PDF, 383 KB

english, 1990

21

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

Friedrich K. Trefz, M. Yoshino, A. Nishiyori, Frank Aengeneyndt, Brigitte Schmidt-Mader, Uta Lichter-Konecki, David S. Konecki

Journal:

Year:

1990

Language:

english

File:

PDF, 311 KB

english, 1990

22

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA

Hideaki Kikuchi, Satoshi Hara, Seiichi Ishiguro, Makoto Tamai, Minro Watanabe

Journal:

Year:

1990

Language:

english

File:

PDF, 291 KB

english, 1990

23

Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus

Elena Raimondi, Antonella Antonelli, Albert J. Driesel, Massimo Pandolfo

Journal:

Year:

1990

Language:

english

File:

PDF, 345 KB

english, 1990

24

Direct estimation of serological H-Y antigen by flow cytometry

Marijo Kent, Stephen Wachtel, H. Tzvi Thaler

Journal:

Year:

1990

Language:

english

File:

PDF, 293 KB

english, 1990

25

Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1

Norma Morrison, Stephen B. Harrap, Jeffrey L. Arriza, Elizabeth Boyd, J. Michael Connor

Journal:

Year:

1990

Language:

english

File:

PDF, 563 KB

english, 1990

26

Failure to document fetal cells in maternal circulation using the Selypes-Lorencz “air-culture” cytogenetic technique

Mounira Youssef, Lee P. Shulman, Avirachan T. Tharapel, Joe Leigh Simpson, Sherman Elias

Journal:

Year:

1990

Language:

english

File:

PDF, 158 KB

english, 1990

27

Mediterranean types of β-thalassemia in the German population

Marion Laig, Michael Pape, Joachim Hundrieser, Gebhard Flatz

Journal:

Year:

1990

Language:

english

File:

PDF, 278 KB

english, 1990

28

A case of ring chromosome 15 accompanied by almost normal intelligence

Mashio Kitatani, Hiroaki Takahashi, Mamoru Ozaki, Eizo Okino, Tatsuya Maruoka

Journal:

Year:

1990

Language:

english

File:

PDF, 287 KB

english, 1990

29

An informative MspI polymorphism detected at the D21S16 locus

G. Camp, A. Vandenberghe, C. Broeckhoven

Journal:

Year:

1990

Language:

english

File:

PDF, 91 KB

english, 1990

30

Recombination and the fragile X

Graeme K. Suthers, Grant R. Sutherland

Journal:

Year:

1990

Language:

english

File:

PDF, 150 KB

english, 1990

31

Unusual segregation of constitutional 11q;22q translocation may be explained by crossover in interchange segment, followed by 3∶1 segregation at meiosis I

R. H. Lindenbaum

Journal:

Year:

1990

Language:

english

File:

PDF, 103 KB

english, 1990

32

Announcements

Journal:

Year:

1990

Language:

english

File:

PDF, 118 KB

english, 1990

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