Volume 101, Issue 1

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October 1997

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24 articles in this issue

Sex chromosomes and human growth
Lassi Alvesalo
Review article Pages: 1 - 5
A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11
Judith M. McKie
Helen F. Sutherland
P. J. Scambler
Original investigation Pages: 6 - 12
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes
Soraya Bardien
Rajkumar Ramesar
J. Greenberg
Original investigation Pages: 13 - 17
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients
Miguel Angel Pujana
Monica Gratacós
X. Estivill
Original investigation Pages: 18 - 21
A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE
Galia Gat-Yablonski
Liat Ries
E. Friedman
Original investigation Pages: 22 - 25
The human cornea has a high incidence of acquired chromosome abnormalities
M. J. Pettenati
Andrew J. Sweatt
Richard M. Davis
Original investigation Pages: 26 - 29
Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts
Hazel J. Clouston
Jeanette Fenwick
J. Wolstenholme
Original investigation Pages: 30 - 36
Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features
A. I. Wacey
M. Krawczak
D. N. Cooper
Original investigation Pages: 37 - 42
Codon-usage variants in the polymorphic (GGN)_n trinucleotide repeat of the human androgen receptor gene
Rose Lumbroso
Lenore K. Beitel
L. Pinsky
Original investigation Pages: 43 - 46
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
M. Tartaglia
C. Di Rocco
Piero A. Battaglia
Original investigation Pages: 47 - 50
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
P. Tannergård
T. Liu
A. Lindblom
Original investigation Pages: 51 - 55
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women
Hélène Blanché
Patrick Vexiau
Christine Bellanné-Chantelott
Original investigation Pages: 56 - 60
Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm
C. L. O’Keefe
D. K. Griffin
T. J. Hassold
Original investigation Pages: 61 - 66
The Arg₁₉₂ isoform of paraoxonase with low sarin-hydrolyzing activity is dominant in the Japanese
Y. Yamasaki
Ken’ya Sakamoto
Masatsugu Hori
Original investigation Pages: 67 - 68
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia
H. D. Campbell
Graham C. Webb
Ian G. Young
Original investigation Pages: 69 - 74
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
L. Messiaen
Tom Callens
Geert Mortier
Original investigation Pages: 75 - 80
Analysis of the transcriptional activity of amplified genes in tumour cells by fluorescence in situ hybridization
C. Jolly
Sylvie Michelland
Claire Vourc’h
Original investigation Pages: 81 - 87
Clinical and genetic heterogeneity in Meckel syndrome
Paulina Paavola
Riitta Salonen
L. Peltonen
Original investigation Pages: 88 - 92
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients
E. Richard
Lourdes R. Desviat
M. Ugarte
Original investigation Pages: 93 - 96
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA
Z. Kato
Seiji Fukuda
Naomi Kondo
Original investigation Pages: 97 - 101
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region
Pachiappan Manickam
Siradanahalli C. Guru
S. C. Chandrasekharappa
Original investigation Pages: 102 - 108
Minimum sample sizes for identifying chromosomal fragile sites from individuals: Monte Carlo estimation
I. F. Greenbaum
J. K. Fulton
P. Fred Dahm
Original investigation Pages: 109 - 112
Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency
Claudio Missarelli
Luisa Herrera
P. Carvallo
Rapid communication Pages: 113 - 117
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects
V. R. Panz
Frederick J. Raal
Barry I. Joffe
Letter to the editors Pages: 118 - 119

Volume 101, Issue 1

Sex chromosomes and human growth

A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11

Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients

A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE

The human cornea has a high incidence of acquired chromosome abnormalities

Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts

Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features

Codon-usage variants in the polymorphic (GGN)_n trinucleotide repeat of the human androgen receptor gene

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women

Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm

The Arg₁₉₂ isoform of paraoxonase with low sarin-hydrolyzing activity is dominant in the Japanese

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

Analysis of the transcriptional activity of amplified genes in tumour cells by fluorescence in situ hybridization

Clinical and genetic heterogeneity in Meckel syndrome

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region

Minimum sample sizes for identifying chromosomal fragile sites from individuals: Monte Carlo estimation

Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency

Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects

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