Human Genetics

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Volume 89, Issue 1

April 1992

32 articles in this issue

Intrachromosomal insertions: a case report and a review
K. Madan
F. H. Menko
Review Article Pages: 1 - 9
Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8
Dunne Fong
Marion Man-Ying Chan
David C. Ward
Original Investigations Pages: 10 - 12
Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool
Han-Xiang Deng
Koh-ichiro Yoshiura
Norio Niikawa
Original Investigations Pages: 13 - 17
Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei
Darren K. Griffin
Leeanda J. Wilton
Joy D. A. Delhanty
Original Investigations Pages: 18 - 22
Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY
B. Van der Auwera
N. Van Roy
F. Speleman
Original Investigations Pages: 23 - 28
Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
Satoshi Ishii
Hitoshi Sakuraba
Yoshiyuki Suzuki
Original Investigations Pages: 29 - 32
Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis
Joëlle Boretto
Anne-Marie Jouanolle
Véronique David
Original Investigations Pages: 33 - 36
αααα^{anti-3.7 type II}: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination
M. De Angioletti
G. Lacerra
C. Carestia
Original Investigations Pages: 37 - 41
Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia
F. Rosselli
J. Sanceau
E. Moustacchi
Original Investigations Pages: 42 - 48
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis
Dietmar Lohmann
Bernhard Horsthemke
Heinz Höfler
Original Investigations Pages: 49 - 53
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
Alain Malafosse
Marion Leboyer
Jacques Mallet
Original Investigations Pages: 54 - 58
Allotype distribution of human T cell receptor β and γ chain genes in Caucasians, Asians and Australian Aborigines: Relevance to chronic hepatitis B
Purnomo Soeharso
Kim M. Summers
W. G. E. Cooksley
Original Investigations Pages: 59 - 63
Cytogenetic, oncogenetic, and histopathologic characteristics of colorectal carcinomas with 17p abnormalities
D. Rau
S. Neubauer
E. Gebhart
Original Investigations Pages: 64 - 68
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal
Catherine Caillaud
Laura Vilarinho
Arnold Munnich
Original Investigations Pages: 69 - 72
Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome
A. M. Sharkey
L. McLaren
H. J. Evans
Original Investigations Pages: 73 - 78
Assignment of casein kinase 2 alpha sequences to two different human chromosomes
Brigitte Boldyreff
Christine Klett
Olaf-Georg Issinger
Original Investigations Pages: 79 - 82
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders
M. De Braekeleer
P. Hechtman
F. Kaplan
Original Investigations Pages: 83 - 87
Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection
Alexander P. Reiner
Arthur R. Thompson
Original Investigations Pages: 88 - 94
Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency
Tsuneo Imai
Toshihiko Yanase
John J. Pratt
Original Investigations Pages: 95 - 96
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene
D. H. Llewellyn
S. J. Smyth
M. F. Smith
Original Investigations Pages: 97 - 98
β^s Haplotypes in various world populations
Cihan Öner
Aleksandar J. Dimovski
Titus H. J. Huisman
Original Investigations Pages: 99 - 104
Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15
Norma Morrison
Craig Simpson
J. Michael Connor
Short Communications Pages: 105 - 106
The gene for the human IgA Fc receptor maps to 19q13.4
E. J. Kremer
V. Kalatzis
C. R. Maliszewski
Short Communications Pages: 107 - 108
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction
David Owerbach
Martin B. Draznin
Frank Greenberg
Short Communications Pages: 109 - 110
Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in Southern African populations
Marius J. Coetzee
Sharon C. Bartleet
Trefor Jenkins
Short Communications Pages: 111 - 113
Genotype mosaicism in fragile X fetal tissues
Doris Wöhrle
Mark C. Hirst
Peter Steinbach
Short Communications Pages: 114 - 116
Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20
J. Jenderny
J. Gebauer
A. Rüger
Short Communications Pages: 117 - 119
Alport syndrome caused by a 5′ deletion within the COL4A5 gene
Alessandra Renieri
Marco Seri
Mario De Marchi
Short Communications Pages: 120 - 121
A rare MspI RFLP of the DMD probe p20 (DXS269)
S. Uhlhaas
E. Bakker
W. Friedl
OriginalPaper Pages: 122 - 122
Highly polymorphic region of the human prothrombin (F2) gene
Hiroyuki Iwahana
Katsuhiko Yoshimoto
Mitsuo Itakura
OriginalPaper Pages: 123 - 124
A comment on the paper: Ovarian dysgenesis in individuals with chromosomal abnormalities, by C. Cunniff, K. Lyons Jones, and K. Benirschke
P. H. Jongbloet
Letter to the Editors Pages: 125 - 125
Announcements

Announcement Pages: 126 - 126

Volume 89, Issue 1

Intrachromosomal insertions: a case report and a review

Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8

Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool

Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

αααα^{anti-3.7 type II}: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination

Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20

Allotype distribution of human T cell receptor β and γ chain genes in Caucasians, Asians and Australian Aborigines: Relevance to chronic hepatitis B

Cytogenetic, oncogenetic, and histopathologic characteristics of colorectal carcinomas with 17p abnormalities

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome

Assignment of casein kinase 2 alpha sequences to two different human chromosomes

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

β^s Haplotypes in various world populations

Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15

The gene for the human IgA Fc receptor maps to 19q13.4

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in Southern African populations

Genotype mosaicism in fragile X fetal tissues

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

Alport syndrome caused by a 5′ deletion within the COL4A5 gene

A rare MspI RFLP of the DMD probe p20 (DXS269)

Highly polymorphic region of the human prothrombin (F2) gene

A comment on the paper: Ovarian dysgenesis in individuals with chromosomal abnormalities, by C. Cunniff, K. Lyons Jones, and K. Benirschke

Announcements

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