Volume 80, Issue 1

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September 1988

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27 articles in this issue

TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia
Kimiko Yamakawa
Takaaki Okafuji
Hideo Hamaguchi
Original Investigations Pages: 1 - 5
Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity
Yasuhiro Indo
Izumi Akaboshi
Ichiro Matsuda
Original Investigations Pages: 6 - 10
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
Takashi Imamura
Original Investigations Pages: 11 - 15
X-chromosome polysomy in the male
Alice Kleczkowska
Jean-Pierre Fryns
Herman Van den Berghe
Original Investigations Pages: 16 - 22
XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance
Vicki N. Meyers-Wallen
Donald F. Patterson
Original Investigations Pages: 23 - 30
Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome
N. Knoers
H. van der Heyden
J. Willems
Original Investigations Pages: 31 - 38
Kenny syndrome: description of additional abnormalities and molecular studies
I. Bergada
A. Schiffrin
G. N. Hendy
Original Investigations Pages: 39 - 42
Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma
John K. Cowell
Paul Rutland
Marcelle Jay
Original Investigations Pages: 43 - 45
Maternal levels of pregnancy-specific β₁ (SP-1) are elevated in pregnancies affected by Down's syndrome
Iris Bartels
Andrea Lindemann
Original Investigations Pages: 46 - 48
Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides
Bert Smeets
Jozef Poddighe
Bé Wieringa
Original Investigations Pages: 49 - 52
Myopia and intelligence:a pleiotropic relationship?
Sanford J. Cohn
Catherine M. G. Cohn
Arthur R. Jensen
Original Investigations Pages: 53 - 58
Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees
Giovanni Romeo
Laura Roncuzzi
Mariano Rocchi
Original Investigations Pages: 59 - 62
HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis
S. J. Cragg
C. Darke
M. Worwood
Original Investigations Pages: 63 - 68
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
Original Investigations Pages: 69 - 74
Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis
Lisa Strain
Ann Curtis
David J. H. Brock
Original Investigations Pages: 75 - 77
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families
M. Krawczak
D. S. Konecki
F. K. Trefz
Original Investigations Pages: 78 - 80
The parental origin and mechanism of formation of three dicentric X chromosomes
Mary C. Phelan
Leonard A. Prouty
Charles E. Schwartz
Original Investigations Pages: 81 - 84
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype
G. de Saint-Basile
M. C. Bohler
S. H. Orkin
Original Investigations Pages: 85 - 89
β-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations
J. Hundrieser
T. Sanguansermsri
G. Flatz
Original Investigations Pages: 90 - 94
Fluorescence in situ hybridization and Y ring chromosome
Robert Kozma
Claudine Fear
Matteo Adinolfi
Short Communications Pages: 95 - 96
Further evidence for localization of the gene of erythrokeratodermia variabilis
J. G. van der Schroeff
I. van Leeuwen-Cornelisse
L. N. Went
Short Communications Pages: 97 - 98
Recurrent genomic rearrangements are not at the fragile sites on chromosomes 3 and 5 in human renal cell carcinomas
G. Kovacs
P. Brusa
Short Communications Pages: 99 - 101
PI Scologne: a new variant in the alpha-1-antitrypsin system
W. Weber
S. Weidinger
Short Communications Pages: 102 - 102
Miller-Dieker syndrome and monosomy 17p13:a new case
A. Selypes
A. László
Clinical Case Reports Pages: 103 - 104
Chondrodysplasia punctata with X;Y translocation
Kazunaga Agematsu
Kenichi Koike
Taro Akabane
Clinical Case Reports Pages: 105 - 107
Heterozygosity and localisation of normal allelic fragments for an alpha₁-antitrypsin homologous sequence
N. A. Kalsheker
G. L. Watkins
DNA Variants Pages: 108 - 109
BglII RFLPs in the COL1A2 gene in the Finnish population
Hannele Ahti
Aarno Palotie
Leena Peltonen
Letter to the Editors Pages: 110 - 110

Volume 80, Issue 1

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

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

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

X-chromosome polysomy in the male

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

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

Kenny syndrome: description of additional abnormalities and molecular studies

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

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

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

Myopia and intelligence:a pleiotropic relationship?

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

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

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

Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis

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

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

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

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

Fluorescence in situ hybridization and Y ring chromosome

Further evidence for localization of the gene of erythrokeratodermia variabilis

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

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

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

Chondrodysplasia punctata with X;Y translocation

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

BglII RFLPs in the COL1A2 gene in the Finnish population

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