Volume 80; Issue 1

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Human Genetics
Volume 80; Issue 1

Human Genetics

Volume 80; Issue 1

1

TaqI polymorphism in the LDL receptor gene and aTaqI 1.5-kb band associated with familial hypercholesterolemia

Kimiko Yamakawa, Takaaki Okafuji, Yukio Iwamura, Kenji Yuzawa, Juichi Satoh, Naoko Hattori, Yasuko Yamanouchi, Hisako Yanagi, Koichi Kawai, Shigeru Tsuchiya, David W. Russell, Hideo Hamaguchi

Journal:

Year:

1988

Language:

english

File:

PDF, 806 KB

english, 1988

2

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

Yasuhiro Indo, Izumi Akaboshi, Yoshitaka Nobukuni, Fumio Endo, Ichiro Matsuda

Journal:

Year:

1988

Language:

english

File:

PDF, 653 KB

english, 1988

3

A substitution of cytosine for thymine in codon 110 of the human β-globin gene is a novel cause of β-thalassemia phenotypes

Yuji Naritomi, Yasushi Naito, Hitoshi Nakashima, Eisuke Yokota, Takashi Imamura

Journal:

Year:

1988

Language:

english

File:

PDF, 725 KB

english, 1988

4

X-chromosome polysomy in the male

Alice Kleczkowska, Jean-Pierre Fryns, Herman Berghe

Journal:

Year:

1988

Language:

english

File:

PDF, 761 KB

english, 1988

5

XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance

Vicki N. Meyers-Wallen, Donald F. Patterson

Journal:

Year:

1988

Language:

english

File:

PDF, 1.47 MB

english, 1988

6

Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome

N. Knoers, H. Heyden, B. A. Oost, H. H. Ropers, L. Monnens, J. Willems

Journal:

Year:

1988

Language:

english

File:

PDF, 532 KB

english, 1988

7

Kenny syndrome: description of additional abnormalities and molecular studies

I. Bergada, A. Schiffrin, H. Srair, P. Kaplan, J. Dornan, D. Goltzman, G. N. Hendy

Journal:

Year:

1988

Language:

english

File:

PDF, 617 KB

english, 1988

8

Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma

John K. Cowell, Paul Rutland, John Hungerford, Marcelle Jay

Journal:

Year:

1988

Language:

english

File:

PDF, 450 KB

english, 1988

9

Maternal levels of pregnancy-specific β1(SP-1) are elevated in pregnancies affected by Down's syndrome

Iris Bartels, Andrea Lindemann

Journal:

Year:

1988

Language:

english

File:

PDF, 307 KB

english, 1988

10

Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides

Bert Smeets, Jozef Poddighe, Han Brunner, Hans-Hilger Ropers, Bé Wieringa

Journal:

Year:

1988

Language:

english

File:

PDF, 544 KB

english, 1988

11

Myopia and intelligence:a pleiotropic relationship?

Sanford J. Cohn, Catherine M. G. Cohn, Arthur R. Jensen

Journal:

Year:

1988

Language:

english

File:

PDF, 678 KB

english, 1988

12

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees

Giovanni Romeo, Laura Roncuzzi, Simonetta Sangiorgi, Manlio Giacanelli, Michele Liguori, Daniela Tessarolo, Mariano Rocchi

Journal:

Year:

1988

Language:

english

File:

PDF, 370 KB

english, 1988

13

HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis

S. J. Cragg, C. Darke, M. Worwood

Journal:

Year:

1988

Language:

english

File:

PDF, 976 KB

english, 1988

14

Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the β globin gene complex

J. A. Donald, A. Lammi, R. J. Trent

Journal:

Year:

1988

Language:

english

File:

PDF, 689 KB

english, 1988

15

Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis

Lisa Strain, Ann Curtis, Moira Mennie, Susan Holloway, David J. H. Brock

Journal:

Year:

1988

Language:

english

File:

PDF, 332 KB

english, 1988

16

Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families

M. Krawczak, D. S. Konecki, J. Schmidtke, M. Dück, W. Engel, W. Nützenadel, F. K. Trefz

Journal:

Year:

1988

Language:

english

File:

PDF, 266 KB

english, 1988

17

The parental origin and mechanism of formation of three dicentric X chromosomes

Mary C. Phelan, Leonard A. Prouty, Roger E. Stevenson, Patricia N. Howard-Peebles, David C. Page, Charles E. Schwartz

Journal:

Year:

1988

Language:

english

File:

PDF, 743 KB

english, 1988

18

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype

G. Saint-Basile, M. C. Bohler, A. Fischer, J. Cartron, J. L. Dufier, C. Griscelli, S. H. Orkin

Journal:

Year:

1988

Language:

english

File:

PDF, 651 KB

english, 1988

19

β-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations

J. Hundrieser, T. Sanguansermsri, T. Papp, Marion Laig, G. Flatz

Journal:

Year:

1988

Language:

english

File:

PDF, 492 KB

english, 1988

20

Fluorescence in situ hybridization and Y ring chromosome

Robert Kozma, Claudine Fear, Matteo Adinolfi

Journal:

Year:

1988

Language:

english

File:

PDF, 361 KB

english, 1988

21

Further evidence for localization of the gene of erythrokeratodermia variabilis

J. G. Schroeff, I. Leeuwen-Cornelisse, A. Haeringen, L. N. Went

Journal:

Year:

1988

Language:

english

File:

PDF, 148 KB

english, 1988

22

Recurrent genomic rearrangements are not at the fragile sites on chromosomes 3 and 5 in human renal cell carcinomas

G. Kovacs, P. Brusa

Journal:

Year:

1988

Language:

english

File:

PDF, 238 KB

english, 1988

23

PI Scologne: a new variant in the alpha-1-antitrypsin system

W. Weber, S. Weidinger

Journal:

Year:

1988

Language:

english

File:

PDF, 166 KB

english, 1988

24

Miller-Dieker syndrome and monosomy 17p13:a new case

A. Selypes, A. László

Journal:

Year:

1988

Language:

english

File:

PDF, 467 KB

english, 1988

25

Chondrodysplasia punctata with X;Y translocation

Kazunaga Agematsu, Kenichi Koike, Hironori Morosawa, Yutaka Nakahori, Yasuo Nakagome, Taro Akabane

Journal:

Year:

1988

Language:

english

File:

PDF, 1.03 MB

english, 1988

26

Heterozygosity and localisation of normal allelic fragments for an alpha1-antitrypsin homologous sequence

N. A. Kalsheker, G. L. Watkins

Journal:

Year:

1988

Language:

english

File:

PDF, 314 KB

english, 1988

27

BglII RFLPs in the COL1A2 gene in the Finnish population

Hannele Ahti, Aarno Palotie, Leena Peltonen

Journal:

Year:

1988

Language:

english

File:

PDF, 137 KB

english, 1988

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