| Syndactylies and Polydactylies:
Embryological Overview and
Suggested Classification |
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| Opening Address |
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| DNA in Court |
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| A Five-Year Prospective Study of the Health of Children in Different Ethnic Groups, with Particular Reference to the Effect of Inbreeding |
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| 'Celtic' Phenylketonuria Chromosomes Found? Evidence in Two Regions of Quebec Province |
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Celtic |
| Author Index |
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| Subject Index |
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| Clinical and Molecular Analysis of Five(Inv) Dup(15) Patients |
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| Mapping the Down Syndrome Chromosome Region |
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| Physical Mapping of Xq24-25 around Loci Closely Linked to the X-Linked Lymphoproliférative Syndrome Locus: An Overlapping YAC Map and Linkage between DXS12, DXS42, and DXS37 |
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| Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation |
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| A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA^Lys Gene |
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| Announcements |
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| Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21 |
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| Autoimmune Polyglandular Disease Type I |
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| Reappraisal of HLA in Multiple Sclerosis: Close Linkage in Multiplex Families |
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| General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype |
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| Prospects of Carrier Screening of Aspartylglucosaminuria in Finland |
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| Efficiency of Various Strategies and Materials to Generate New Markers: Saturating the Region 5q11.2-q13.3 with 30 New Randomly Distributed Clones |
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| Announcements |
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| A PCR-Aided Transcript Titration Assay Revealing Very Low Expression of a Gene at Band 3p21 in 33 Cell Lines Derived from all Types of Lung Cancer |
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| Testing Genomic Imprinting in
Wilms'Tumor |
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| Collaborative Study of the Molecular Epidemiology of Tay-Sachs Disease in Europe |
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| Thoughts of a Geneticist |
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| Contents Vol. 1, 1993 |
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| Editorial |
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| Human Genomic Diversity in Europe: A Summary of Human Genomic Diversity in Europe: A Summary of Recent Research and Prospects for the Future |
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| Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event |
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| A Single PCR Marker in Strong Allelic Association with the Infantile Form of Neuronal Ceroid Lipofuscinosis Facilitates Reliable Prenatal Diagnostics and Disease Carrier Identification |
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| Announcements |
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| Striking Founder Effect for the Fragile X Syndrome in Finland |
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| Haemophilia B Due to a De Novo Insertion of a Human-Specific Alu Subfamily Member within the Coding Region of the Factor IX Gene |
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| Quantification of Mitochondrial DNA Carrying the tRNA(8344)^Lys Point Mutation in Myoclonus Epilepsy and Ragged-Red-Fiber Disease |
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| A Simple Method for Prenatal Diagnosis of Trisomy 21 on Uncultured Amniocytes |
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| Announcements |
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| Genetic Mapping in the Xp11.2
Region of a New Form of X-Linked
Hypophosphatemic Rickets |
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| A Pst^+ Polymorphism in the HEXA Gene with an Unusual Geographie Distribution |
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| Three Polymorphisms but No Disease-Causing Mutations in the Proximal Part of the Promoter of the Phenylalanine Hydroxylase Gene |
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| Analysis of the Primary Sex Ratio, Sex Chromosome Aneuploidy and Diploidy in Human Sperm Using Dual-Colour Fluorescence in situ Hybridisation |
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| Molecular Investigation of Familial Beckwith-Wiedemann Syndrome: A Model for Paternal Imprinting |
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| Linkage Disequilibrium Analysis of Friedreich's Ataxia in 140 Caucasian Families: Positioning of the Disease Locus and Evaluation of Allelic Heterogeneity |
✓ |
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| Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample |
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| Screening for Carriers of Cystic Fibrosis among Pregnant Women: A Pilot Study |
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| Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect? |
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