| Audit of Maternal Serum Screening:
Strategies to Augment Counselling
in Response to Women's Views |
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| Integration of 30 CA-Repeat Markers into the Cytogenetic, Genetic and YAC Maps of Human Chromosome 21 |
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| Four Novel Dystrophin Point Mutations: Detection by Protein Truncation Test and Transcript Analysis in Lymphocytes from Duchenne Muscular Dystrophy Patients |
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| Evidence for a Common Origin of
Most Friedreich Ataxia
Chromosomes in the Spanish
Population |
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✓ |
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Spanish population |
| Fabry Disease: Fourteen
α-Galactosidase A Mutations in
Unrelated Families from the
United Kingdom and Other
European Countries |
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✓ |
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European countries |
| Assignment of Genes Coding for
Brown Eye Colour (BEY2) and
Brown Hair Colour (HCL3) on
Chromosome 15q |
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| Pure Familial Spastic Paraplegia:
Clinical and Genetic Analysis of
Nine Belgian Pedigrees |
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| Human Trefoil Peptides: Genomic Structure in 21q22.3 and Coordinated Expression |
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| Contents Vol. 4, 1996 |
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| Analysis of Alternative Splicing Patterns in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using mRNA Derived from Lymphoblastoid Cells of Cystic Fibrosis Patients |
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| Seven Novel Additional Small Mutations and a New Alternative Splicing in the Human Dystrophin Gene Detected by Heteroduplex Analysis and Restricted RT-PCR Heteroduplex Analysis of Illegitimate Transcr |
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| Announcement |
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| The Majority of 22 Dutch High-Risk
Breast Cancer Families Are due to
Either BRCA1 or BRCA2 |
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| Mapping by Sequence Homology |
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| Spectrum of Craniosynostosis
Phenotypes Associated with Novel
Mutations at the Fibroblast Growth
Factor Receptor 2 Locus |
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| Announcement |
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| Positional Cloning, Transcription
Mapping, and Whole Genome Gene
Identification: The Choice is Yours! |
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| A Point Mutation in the XNP Gene,
Associated with an ATR-X
Phenotype without a-Thalassemia |
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| Cystic Fibrosis Heterozygote Screening
in the Orthodox Community of
Ashkenazi Jews: The Dor Yesharim
Approach and Heterozygote Frequency |
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| Announcements |
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| Subject Index Vol. 4,1996 |
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| Abstracts of spoken presentations |
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| Unexpected Inheritance of the
(CGG)(n) Trinucleotide Expansion in a
Fragile X Syndrome Family |
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| Psychological Impact of Carrier
Screening for Cystic Fibrosis
among Pregnant Women |
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| Announcements |
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| Erratum |
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| Phenylalanine Hydroxylase Gene
Mutation R408W Is Present on
84% of Estonian Phenylketonuria
Chromosomes |
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| Adolescents' Attitude Towards
Carrier Testing for Cystic Fibrosis |
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| Comparison of Single-Strand
Conformation Polymorphism and
Heteroduplex Analysis for Detection
of Mutations in Charcot-Marie-Tooth
Type 1 Disease and Related Peripheral
Neuropathies |
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| Author Index Vol. 4,1996 |
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| Machado-Joseph Disease:
Correlation between the Clinical
Features, the CAG Repeat Length
and Homozygosity for the Mutation |
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| Gly802Asp Substitution in the
proα2(l) Collagen Chain in a Family
with Recurrent Osteogenesis
imperfecta due to Paternal
Mosaicism |
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| Announcements |
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| Population Genetic Comparisons among Eight Populations using Allele Frequency and Sequence Data from Three Microsatellite Loci |
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| A High-Resolution Radiation Hybrid
Map of the Region Surrounding the
Gorlin Syndrome Gene |
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| Prevalence and Parental Origin of
de novo RET Mutations in
Hirschsprung's Disease |
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| Title Page / Table of Contents |
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| Human Genetics, a Prediction |
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| Distribution of CFTR Mutations in
Cystic Fibrosis Patients of Tunisian
Origin: Identification of Two Novel
Mutations |
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| Estimation of the Mutation Frequencies
in Charcot-Marie-Tooth Disease Type 1
and Hereditary Neuropathy with
Liability to Pressure Palsies:
A European Collaborative Study |
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✓ |
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European Collaborative Study |
| Refined Genetic and Physical
Mapping of BPES Type II |
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| Non-Syndromic Deafness Associated
with a Mutation and a Polymorphism in
the Mitochondrial 12S Ribosomal RNA
Gene in a Large Zairean Pedigree |
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| Frequency Distributions of
Apolipoprotein(a) Kringle IV Repeat
Alleles and Their Effects on
Lipoprotein(a) Levels in Caucasian,
Asian, and African Populations:
The Distribution of Null Alleles Is
Non- |
✓ |
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✓ |
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Asian, African Populations |
| An Xp22.1-p22.2 YAC Contig
Encompassing the Disease Loci for
RS, KFSD, CLS, HYP and RP15:
Refined Localization of RS |
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| Autosomal Recessive Lamellar
Ichthyosis and Acute
Lymphoblastic Leukemia |
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| Experiences of Mothers
Participating in Maternal Serum
Screening for Down's Syndrome |
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| Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty |
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| Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation |
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| Isochromosome 18p Results from Maternal Meiosis II Nondisjunction |
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| Assignment of Genes Encoding
GABA(A) Receptor Subunits α(1), α(6), β(2),
and γ(2) to a YAC Contig of 5q33 |
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| Relative Frequency, Heterogeneity
and Geographic Clustering of PKU
Mutations in Norway |
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| Prenatal Prediction of Spinal
Muscular Atrophy |
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| A10-cM YAC Contig Spanning
GLC1A, the Primary Open-Angle
Glaucoma Locus at 1q23-q25 |
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| Confinement of PGL, an Imprinted
Gene Causing Hereditary
Paragangliomas, to a 2-cM Interval
on 11q22-q23 and Exclusion of
DRD2 and NCAM as Candidate
Genes |
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| A Systematic Analysis of the
Mutations of the Uroporphyrinogen
III Synthase Gene in Congenital
Erythropoietic Porphyria |
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| Fibulin-2: Genetic Mapping and
Exclusion as a Candidate Gene in
Marfan Syndrome Type 2 |
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| Arylsulfatase A Pseudodeficiency -
Incidence in Poland |
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| Exon-Scanning Mutation Analysis
of the ATM Gene in Patients with
Ataxia-T elangiectasia |
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| Mutations in the Human
Mannose-Binding Protein Gene:
Frequencies in Several Population
Groups |
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| Adolescents' Attitude towards
Carrier Testing for Cystic Fibrosis
and Its Relative Stability over Time |
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| The Molecular Basis for Disease
Variability in Cystic Fibrosis |
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| Clinical Heterogeneity in 16 Patients
with inv dup 15 Chromosome:
Cytogenetic and Molecular Studies,
Search for an Imprinting Effect |
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| A New Version of Cyrillic: Overview |
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| Delineation of a 1-cM Region on
Distal 5q Containing the Locus for
Corneal Dystrophies Groenouw
Type I and Lattice Type I and
Exclusion of the Candidate Genes
SPARC and LOX |
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| Announcements |
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| A 3-Mb Region for the Familial
Hemiplegie Migraine Locus on
19p13.1-p13.2: Exclusion of
PRKCSH as a Candidate Gene |
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| Types I and III Gaucher Disease in
Poland: Incidence of the Most
Common Mutations and
Phenotypic Manifestations |
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| Physical Map and Cosmid Contig
Encompassing a New Interstitial
Deletion of the X-Linked
Lymphoproliférative Syndrome Region |
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