| Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome |
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| Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q) |
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| Presidential Address. Human and Medical Genetics: Past, Present, and Future |
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| Human Sex Chromosomes: Molecular Analyses Have Not Yet Provided All the Answers |
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| Functions of the Proteins Encoded in Human Mitochondrial DNA |
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| Mammalian Genes and Islands of Non-Methylated CpG-Rich DNA |
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| Androgenesis and Parthenogenesis in Humans |
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| Aneuploidy in Mouse and Man |
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| Two-Dimensional Electrophoretic Protein Analysis in Human Genetics |
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| Clinical Approach to Inherited Peroxisomal Disorders |
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| Chromosome Abnormalities and Oncogenes in Human Leukemia and Lymphoma |
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| Progress Toward an Accurate Human Linkage Map |
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| Workshop on Human Genetics Problems in the Third World |
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| HLA, Immune Response, and Disease |
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| Chromosomal Findings in Chorionic Villi: A Collaborative Study |
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| Workshop on the Prenatal Diagnosis of Cystic Fibrosis |
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| Comparative Law and Legislation on Eugenic Sterilization and Selective Abortion |
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| Homologies Between the Sex Chromosomes of Man |
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| Molecular Diagnosis of X-Linked Disorders |
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| Detection and Estimation of Linkage, Especially Multipoint Mapping |
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| X Chromosome Inactivation |
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| Workshop on Repetitive DNA in Mammalian Genomes |
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| Microdeletions and Mendelian Phenotypes |
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| Autosomal Disorders: New Frontiers of the Phenotype |
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| AB0 and HLA Systems: Effects of Maternal Incompatibilities on the Conceptus |
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| Chromosome Sorting |
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| Genetics and Molecular Biology of Lethal Genes in the Mouse T/t Complex |
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| The Genetics of Hypertension: An Unsolved Puzzle With Many Pieces |
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| The Ecumenical Future of Human Genetics |
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| Workshop: Nosology of the Inherited Disorders of Connective Tissue |
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| Summary of the Workshop on Clinical and Genetic Heterogeneity of Fanconi’s Anemia |
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| The Role of the Ph Chromosome in Chronic Myelocytic Leukemia |
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| Somatic Cell and Molecular Genetics of Growth Factor Receptors |
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| Single Gene Effects in Psychiatric Disorders |
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| Introduction to the Symposium on Pharmacogenetics |
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| Adenosine Deaminase Gene Transfer |
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| Medical In-Utero Therapy |
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| A Molecular Analysis of X-Linked Disease |
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| Mitochondrial Clans and the Age of Our Common Mother |
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| Evolutionary Implications of Mitochondrial DNA Polymorphism in Human Populations |
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| Antibodies and T-Cell Receptors: Jumping Genes and Supergene Families and New Instruments for Studying Them |
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| Our Mutation Load |
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| Molecular Human Genetics — Strategies of Gene Identification |
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| Contribution of High-Resolution Banding and In Situ Hybridization to Clinical Cytogenetic Diagnosis |
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| Phenotypic-Karyotypic Correlations of Gonadal Determinants: Current Status and Relationship to Molecular Studies |
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| Chromosome Abnormalities: Origin and Etiology in Abortions and Livebirths |
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| Cultural Evolution and Genetics |
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| Meiosis and Male Infertility |
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| β-Thalassemic Syndromes As a Model for the Study of the Molecular Basis of Human Inherited Disease |
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| Taxonomy and Inheritance of Anxiety States |
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| Genetic Risk Factors for Atherosclerotic Disease |
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| Peroxisomal Disorders |
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| Peroxisomal Disorders: Biochemical Characteristics and Genetic Relationship Between the Different Diseases |
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| Biogenesis of Peroxisomes: Implications for Zellweger Syndrome |
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| Nosologic Grouping in Birth Defects |
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| Human Genetics and the Responsibility of the Medical Doctor (Public Lecture held in German) |
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| Summary of the Workshop on DNA Repair Defects |
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| Summary of the Workshop on New Approaches in Twin Research: Applications in Genetic Epidemiology |
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| The Temporal Dimension of the Gene |
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| Comparative Genetic Analysis of Homeo-Box Genes in Mouse and Man |
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| Sex-Linked Mental Retardation |
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| Human Genomics 1986: Toward a Complete Gene Map and Nucleotide Sequence of the Human Genome |
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| Genetics and Schizophrenia — Current State of Negotiations |
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| Inbreeding and the Epidemiology of Schizophrenia |
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| Gene Activity in the CNS, a Tool for Understanding Brain Function and Dysfunction |
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| Genetic Variation and Basis of Alcohol Metabolism and Response |
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| Genetic Variation in the Hepatic Cytochrome P-450 System |
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| Genetic Variations in Hydrolytic Enzymes: Human Serum Cholinesterase and Paraoxonase |
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| The N-Acetyl Transferase Polymorphism and Its Clinical Relevance |
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| Workshop on the Rett Syndrome |
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| Hereditary Diseases in Asia: Chairman’s Introduction |
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| Incidence of Genetic Disease in Japan |
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| Medical Genetic Survey of Soviet Middle Asian Populations |
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| Anthropogenetic Study of Variation in the Craniospinal Joint |
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| Genetic Diseases in China — Some Epidemiological Features |
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| Workshop on Population Genetics: Field Studies |
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| Chromosome Study of Chorionic Villi After Short-Term Incubation: Diagnostic and Experimental Applications |
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| Worldwide Experience with First-Trimester Fetal Diagnosis by Molecular Analysis |
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| Workshop on Genetic Counseling |
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| Workshop on Gene Mapping and Genetic Prediction for Autosomal Dominant Disorders |
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| Workshop on the Prevention of Inherited Hemoglobinopathies |
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| Workshop on Training in Medical Genetics |
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| Open Fetal Surgery 1986 |
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| Molecular Genetics: An Approach Towards the Basic Defect Causing Cystic Fibrosis |
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| Ethics and Human Genetics: A Cross-Cultural Study in 17 Nations |
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| Ethical Issues in Reproductive Alternatives for Genetic Indications |
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| Permanent Committee for the International Congresses of Human Genetics |
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| Molecular Techniques in Mammalian Genetics: A New Era in Genetic Analysis |
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| Common Disease: From Phenotype to Genotype |
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| Apolipoprotein Gene Mutations, Dyslipoproteinemia and Coronary Heart Disease |
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| Inherited Peroxisomal Disorders: Defects in the Oxidation of Very Long Chain Fatty Acids and Phytanic Acid |
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| Transgenic Mice in the Study of Human Disease |
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| Introduction to the Symposium on Psychobiological Genetics |
|
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| Pharmacogenetic Approaches to the Study of Brain Function |
|
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| Workshop on the Epidemiology of Congenital Anomalies |
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| Workshop on the Genetic Aspects of Human Adaptation |
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| Autosomal recessive and dominant forms of polycystic kidney disease are not allelic |
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| Linkage relationships of X-linked choroideremia to DXYS1 and DXS3 |
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| Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences |
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| Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci |
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| Chromosomal insertion of human papillomavirus 18 sequences in HeLa cells detected by nonisotopic in situ hybridization and reflection contrast microscopy |
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| Genes for two homologous G-protein α subunits map to different human chromosomes |
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| Familial deletion in Becker type muscular dystrophy within the pXJ region |
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| Localization of the human progesterone receptor gene to chromosome 11q22–q23 |
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| Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22 |
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| A new BF F variant by polyacrylamide gel isoelectric focusing |
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| Interpretation of the heterogeneity in the linkage relationships of DNA markers around the fragile X locus |
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| The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP |
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| Development of the first meiotic prophase stages in human fetal oocytes observed by light and electron microscopy |
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| Pachytene analysis in a 17;21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility |
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| Orosomucoid (ORM) typing by isoelectric focusing: evidence for gene duplication of ORM1 and genetic polymorphism of ORM2 |
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| Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88 |
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| Loss of heterozygosity in hypotriploid cell cultures from testicular tumours |
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| Linkage relationship between the genes for adenosine deaminase and S-adenosyl-homocysteine hydrolase on human chromosome 20 |
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|
|
| Three new orosomucoid (ORM) variants revealed by isoelectric focusing and print immunofixation |
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|
|
| A case of Shwachman syndrome with increased spontaneous chromosome breakage |
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| Interstitial deletion of chromosome 13 involving the region 13q14 |
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| An azoospermic male with reciprocal translocation t(1;15)(q11;p11) |
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| Do individual allocyclic chromosomes in metaphase reflect their interphase domains? |
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| Gene-rich chromosome regions and autosomal trisomy |
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| Posttreatment with sodium arsenite is coclastogenic in log phase but not in stationary phase |
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| Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions |
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| Genetic risk and recombination fraction ?an example of non-monotonic dependency |
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| A patient with extreme variation in number and size of small marker chromosomes |
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| Assignment of the myelin basic protein gene to human chromosome 18q22-qter |
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| Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2?q12.1 |
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|
| Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies |
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| A new case of familial paracentric inversion of chromosome 2 |
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| Regional localization and characterization of a DNA segment on the long arm of chromosome 21 |
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| Different reactivity of Z-DNA antibodies with human chromosomes modified by actinomycin D and 5-bromodeoxyuridine |
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| A simple DNA diagnostic method for human genetic disorders |
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| Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis |
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| Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter |
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| Nucleolus, nucleolar chromosomes, and nucleolus-associated chromatin from early diplotene to dictyotene in the human oocyte |
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| X-Chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred |
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|
✓ |
|
Pakistani |
| Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature |
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| Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism |
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| Size variation in kinetochores of human chromosomes |
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| Does ?ring syndrome? exist? An analysis of 207 case reports on patients with a ring autosome |
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| Adenosine deaminase, adenylate kinase and acid phosphatase polymorphism in a French-Canadian population |
|
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| Announcements |
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| Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy |
|
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|
| An ?-fucosidase pseudogene on human chromosome 2 |
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| Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality |
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| Cystic fibrosis?a single locus disease? |
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| Hypothesis regarding the nature of the fragile X mutation |
|
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| Ascertainment bias and power of procedures to estimate differences between male and female mutation rates |
|
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|
| Announcements |
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|
|
| Isolation of a polymorphic genomic clone from chromosome 7 |
|
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|
|
| Gd(+)Cuiabá, a new rare glucose-6-phosphate dehydrogenase variant presenting normal activity |
|
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|
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|
|
| Appendix: A general regression model for analysis of independent maternal and paternal age effects for 47,+21 and other disorders that may arise from mutant gametes from either parent |
|
|
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|
|
| Familial retinoblastoma (mother and son) with 13q14 deletion |
|
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|
|
| The fragile site (17)(p12): induction by AT-specific DNA-ligands and population cytogenetics |
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|
|
| Two different forms of beta myosin heavy chain are expressed in human striated muscle |
|
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|
|
| Localization of the human multiple drug resistance gene, MDR1, to 7q21.1 |
|
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|
|
| A comparative mapping study of fragile sites in the human and murine genomes |
|
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|
|
| Confined chorionic mosaicism in prenatal diagnosis |
|
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|
|
| Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase |
|
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|
|
| Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) |
|
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|
|
| A hypervariable repeated sequence on human chromosome 1p36 |
|
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|
|
| Molecular cloning of a pair of human pepsinogen A genes which differ by a Glu?Lys mutation in the activation peptide |
|
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|
|
| Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7 |
|
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|
|
| A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects |
|
|
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|
|
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|
|
| Issues in analysis of data on paternal age and 47,+21: implications for genetic counseling for Down syndrome |
|
|
|
|
|
|
|
|
|
| An analysis of paternal age and 47,+21 in 35,000 new prenatal cytogenetic diagnosis data from the New York State Chromosome Registry: no significant effect |
|
|
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|
|
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|
|
| On methodological issues regarding 47,+21 paternal age data |
|
|
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|
|
| Partial structure of the human ?2(IV) collagen chain and chromosomal localization of the gene (COL4A2) |
|
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|
|
| Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family |
✓ |
|
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|
|
| Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies |
|
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|
|
| Loss of heterozygosity and the origin of meningioma |
|
|
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|
|
|
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|
|
| Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 ? q22.3 in a patient with tyrosinemia type II |
|
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|
|
|
|
| The study of a French family with two duplicated C4A haplotypes |
|
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|
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|
|
| Analysis of protein patterns from different organs and cell fractions of trisomy 19 mice |
|
|
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|
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|
|
| Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies |
|
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|
|
| The rare variant ADA 6-1. First detection in a Japanese population |
|
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|
✓ |
|
Japanese population |
| Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p |
|
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|
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|
|
| Variation in the frequency and type of sperm chromosomal abnormalities among normal men |
|
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|
|
|
|
|
|
| Mapping of a restriction fragment length polymorphism within the human aldolase B gene |
|
|
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|
|
|
|
|
|
| One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population |
|
|
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|
|
|
|
| A cytogenetic study directly from chorionic villi of 140 spontaneous abortions |
|
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|
|
|
| A Y/5 translocation in a 45,X male with cri du chat syndrome |
|
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|
|
|
| Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11 |
|
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|
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|
|
| Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY |
|
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|
|
| Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly |
|
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|
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|
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| Lack of genetic polymorphism in human skeletal muscle enzymes of the tricarboxylic acid cycle |
|
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|
|
|
| Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance |
|
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|
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|
|
|
| Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis |
|
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|
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| Unsuitability of the assay for cell-mediated lympholysis in inbred mice for H-Y antigen determination of human cells |
|
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|
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|
|
| Chromosome analysis of human sperm |
|
|
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|
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|
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|
|
| Paracentric inversion in a female with multiple miscarriages (7inv)(q2.13;q3.13) |
|
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|
|
|
|
|
|
| Variation in the expression of aphidicolin-induced fragile sites in human lymphocyte cultures |
|
|
|
|
|
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|
|
|
| Increased concentrations of various amino acids in schizophrenic patients |
|
|
|
|
|
|
|
|
|
| The gene coding for the human T-lymphocyte CD2 antigen is located on chromosome 1p |
|
|
|
|
|
|
|
|
|
| Three new G6PD variants, G6PD Adana, G6PD Samanda?, and G6PD Balcali in �ukurova, Turkey |
|
|
|
|
|
|
|
|
|
| Human cholinesterase genes localized by hybridization to chromosomes 3 and 16 |
|
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|
|
|
| Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease |
|
|
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|
|
|
|
|
| Deletions of the steroid sulphatase gene in ?classical? X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome |
|
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|
|
|
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| 47,XXX females, sex chromosomes, and tooth crown structure |
|
|
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|
|
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|
|
| Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization |
|
|
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|
|
|
| Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia |
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|
|
| Announcement |
|
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|
|
| Genetic counseling in the epilepsies |
|
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|
|
|
|
|
| Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci |
|
|
|
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|
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|
|
|
| Confirmation of assignment of the human α1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3 |
|
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|
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|
|
| Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions |
|
|
|
|
|
|
|
|
|
| Growth of large chromosomally abnormal T cell clones in ataxia telangiectasia patients is associated with translocation at 14q11 |
|
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|
|
|
|
|
|
| Constitutional Robertsonian T(15;22) in Ph-positive CML |
|
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|
|
| DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening |
|
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|
|
| Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe |
|
|
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|
|
| Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line |
|
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|
|
|
|
|
| DNA polymorphic patterns and haplotype arrangements of the apo A-1, apo C-III, apo A-IV gene cluster in different ethnic groups |
|
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|
|
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|
|
| Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene |
|
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|
|
| ?-Thalassemia haplotypes in the Algerian population |
|
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|
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|
|
| Remarks to the letter from G. J. te Meerman et al. |
|
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|
|
|
|
| Mammalian T-lymphocyte antigen receptor genes: genetic and nongenetic potential to generate variability |
|
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|
|
|
|
|
|
| Further evidence for genetic heterogeneity in the fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Chromosomal location by in situ hybridization of the human Sau3A family of DNA repeats |
|
|
|
|
|
|
|
|
|
| Pericentric inversions in man: personal experience and review of the literature |
|
|
|
|
|
|
|
|
|
| Human elongation factor 1α: a polymorphic and conserved multigene family with multiple chromosomal localizations |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis: typing 48 German families with linked DNA probes |
|
|
|
|
|
|
|
|
|
| The effect of Gc genotype on fasting insulin level in Dogrib Indians |
|
|
|
|
|
|
|
|
|
| Proposal for a scoring of the quality of the banding of chromosomes |
|
|
|
|
|
|
|
|
|
| X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization |
|
|
|
|
|
|
|
|
|
| A DNA marker closely linked to the factor IX (haemophilia B) gene |
|
|
|
|
|
|
|
|
|
| A complex balanced chromosomal rearrangement in repeated abortions |
|
|
|
|
|
|
|
|
|
| Three cases of 45,X/46,XYnf mosaicism |
|
|
|
|
|
|
|
|
|
| Ten families with fragile X syndrome: linkage relationships with four DNA probes from distal Xq |
|
|
|
|
|
|
|
|
|
| Study of human chromosome V |
|
|
|
|
|
|
|
|
|
| The clastogenic effect of 5-methoxypsoralen plus UV-A in human lymphocytes in vitro and its modification by the anticlastogen ?-aminoethylisothiouronium |
|
|
|
|
|
|
|
|
|
| Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan |
|
|
|
|
|
|
|
|
|
| A study of genetic linkage heterogeneity in adult polycystic kidney disease |
|
|
|
|
|
|
|
|
|
| Determination of the serological sex-specific (Sxs) antigen (?H-Y antigen?) in birds and mammals using high-titer antisera and a sensitive urease ELISA |
|
|
|
|
|
|
|
|
|
| Meiotic nondisjunction in oocytes from aged Djungarian hamsters correlates with an alteration in meiosis rate but not in univalent formation |
|
|
|
|
|
|
|
|
|
| The fragile site (16)(q22) |
|
|
|
|
|
|
|
|
|
| Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Newly characterized genetic polymorphism of uropepsinogen group A (PGA) using both isoelectric focusing and immunoblotting |
|
|
|
|
|
|
|
|
|
| Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase |
|
|
|
|
|
|
|
|
|
| Distribution of Gd- alleles in some ethnic groups of the USSR |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion |
|
|
|
|
|
|
|
|
|
| Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Liver glutathione S-transferase polymorphism in Japanese and its pharmacogenetic importance |
|
|
|
|
|
|
✓ |
|
Japanese |
| Fragile sites, chromosome evolution, and human neoplasia |
|
|
|
|
|
|
|
|
|
| Microinjection of normal cell extracts into Fanconi anemia fibroblasts corrects defective scheduled DNA synthesis recovery after 8-methoxypsoralen plus UVa treatment |
|
|
|
|
|
|
|
|
|
| Cell cycle rate and sister chromatid exchange profile in polyethylene glycol-exposed/unexposed Bloom syndrome and normal cells |
|
|
|
|
|
|
|
|
|
| Allele-specific DNA identity patterns |
|
|
|
|
|
|
|
|
|
| The origin and phenotype of XO males |
|
|
|
|
|
|
|
|
|
| Genetic polymorphism of human plasma ?1-B-glycoprotein: phenotyping by immunoblotting or by a simple method of 2-D electrophoresis |
|
|
|
|
|
|
|
|
|
| Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation |
|
|
|
|
|
|
|
|
|
| Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes |
|
|
|
|
|
|
|
|
|
| A new Hind III restriction fragment length polymorphism in the hemophilia A locus |
|
|
|
|
|
|
|
|
|
| The potential of family flow karyotyping for the detection of chromosome abnormalities |
|
|
|
|
|
|
|
|
|
| Spermatogenesis in two patients with the fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants) |
|
|
|
|
|
|
|
|
|
| Application of cloned satellite DNA sequences to molecular-cytogenetic analysis of constitutive heterochromatin heteromorphisms in man |
|
|
|
|
|
|
|
|
|
| Exclusion of the Friedreich ataxia gene from chromosome 19 |
|
|
|
|
|
|
|
|
|
| ?-Thalassemia in Saudi Arabia: deletion pattern |
|
|
|
|
|
|
|
|
|
| Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23 |
|
|
|
|
|
|
|
|
|
| Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man |
|
|
|
|
|
|
|
|
|
| Population data on benign and severe forms of X-linked muscular dystrophy |
|
|
|
|
|
|
|
|
|
| A common restriction fragment length polymorphism of the human apolipoprotein E gene and its relationship to type III hyperlipidaemia |
|
|
|
|
|
|
|
|
|
| DNA deletions in mild and severe Becker muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Identification of a male-specific (H-Y) antigen on the flagellar plasma membrane of ram epididymal spermatozoa |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies using Q-band polymorphisms in patients with AML receiving marrow from like-sex donors |
|
|
|
|
|
|
|
|
|
| De novo 10q(q21q22) interstitial deletion |
|
|
|
|
|
|
|
|
|
| Autosomal dominant inheritance of benign bilateral acromial dimples |
|
|
|
|
|
|
|
|
|
| What causes the abnormal phenotype in a 49,XXXXY male? |
|
|
|
|
|
|
|
|
|
| Hydatidiform mole: genetic origin in polyploid conceptuses |
|
|
|
|
|
|
|
|
|
| Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16 |
|
|
|
|
|
|
|
|
|
| A null allele of esterase D is a marker for genetic events in retinoblastoma formation |
|
|
|
|
|
|
|
|
|
| Sequential G- to R-banding for high resolution chromosome analysis |
|
|
|
|
|
|
|
|
|
| Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria |
|
|
|
|
|
|
|
|
|
| Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone |
|
|
|
|
|
|
|
|
|
| Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present |
|
|
|
|
|
|
|
|
|
| Phosphofructokinase activity in fibroblasts aneuploid for chromosome 21 |
|
|
|
|
|
|
|
|
|
| Electron microscopy as a means for carrier detection and genetic counselling in families at risk of tuberous sclerosis |
|
|
|
|
|
|
|
|
|
| A hypervariable region at the D19S11 locus |
|
|
|
|
|
|
|
|
|
| X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus |
|
|
|
|
|
|
|
|
|
| A new variant of chromosome 16 |
|
|
|
|
|
|
|
|
|
| De novo t(2;13)(p24.3;q14.2) and retinoblastoma |
|
|
|
|
|
|
|
|
|
| A new translocation t(1;4;11) in congenital acute nonlymphocytic leukemia (acute myeloblastic leukemia) |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Comments |
|
|
|
|
|
|
|
|
|
| Of testis and H-Y antigen |
|
|
|
|
|
|
|
|
|
| Immunologic comments |
|
|
|
|
|
|
|
|
|
| Sxs antigen and the heterogametic gonad |
|
|
|
|
|
|
|
|
|
| Short reply to the comments by Dr. Simpson |
|
|
|
|
|
|
|
|
|
| Gene organization of haplotypes expressing two different C4A allotypes |
|
|
|
|
|
|
|
|
|
| Human ?-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization |
|
|
|
|
|
|
|
|
|
| Isoacentric and isocentric chromosomes originating after deletions of human chromosomes |
|
|
|
|
|
|
|
|
|
| Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment |
|
|
|
|
|
|
|
|
|
| Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus |
|
|
|
|
|
|
|
|
|
| Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Assignment of the human gamma-glutamyl transferase gene to the long arm of chromosome 22 |
|
|
|
|
|
|
|
|
|
| Human ?-globin maps to pter-p13.3 in chromosome 16 distal to PGP |
|
|
|
|
|
|
|
|
|
| A method for nucleic acid hybridization to isolated chromosomes in suspension |
|
|
|
|
|
|
|
|
|
| Detection of BrdUrd incorporation in mammalian chromosomes by a BrdUrd antibody |
|
|
|
|
|
|
|
|
|
| Ring chromosome 15 in a mother and her children |
|
|
|
|
|
|
|
|
|
| Steroid sulphatase levels are higher in males than in females of the root vole (Microtus oeconomus) |
|
|
|
|
|
|
|
|
|
| An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region |
|
|
|
|
|
|
|
|
|
| Antioxidant status of Fanconi anemia fibroblasts |
|
|
|
|
|
|
|
|
|
| Lack of association and linkage between HLA and familial polyposis coli |
|
|
|
|
|
|
|
|
|
| Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya |
|
|
|
|
|
|
|
|
|
| p82H identifies sequences at every human centromere |
|
|
|
|
|
|
|
|
|
| De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma |
|
|
|
|
|
|
|
|
|
| Genetic hemochromatosis and HLA linkage |
|
|
|
|
|
|
|
|
|
| The human inactivated X chromosome folds in early metaphase, prometaphase, and prophase |
|
|
|
|
|
|
|
|
|
| Prevalence of the fragile X syndrome in four birth cohorts of children of school age |
|
|
|
|
|
|
|
|
|
| A small deletion in the Duchenne/Becker muscular dystrophy locus ?a functionally important region? |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis |
|
|
|
|
|
|
|
|
|
| Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia |
|
|
|
|
|
|
|
|
|
| The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10 |
|
|
|
|
|
|
|
|
|
| Human ferritin H and L sequences lie on ten different chromosomes |
|
|
|
|
|
|
|
|
|
| Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42) |
|
|
|
|
|
|
|
|
|
| First trimester abortions associated with a translocation t(1;20)(p36;p11) |
|
|
|
|
|
|
|
|
|
| Facts and considerations about sex-specific antigens |
|
|
|
|
|
|
|
|
|
| Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome) |
|
|
|
|
|
|
|
|
|
| Sporadic cases in Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| An improved method for detecting Y chromosomal DNA |
|
|
|
|
|
|
|
|
|
| RFLP analysis in families with sporadic hemophilia A |
|
|
|
|
|
|
|
|
|
| MspI polymorphic site within the Factor IX gene |
|
|
|
|
|
|
|
|
|
| Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations |
|
|
|
|
|
|
|
|
|
| Rapid RFLP screening procedure identifies new polymorphisms at albumin and alcohol dehydrogenase loci |
|
|
|
|
|
|
|
|
|
| Different severity of homozygous ?-thalassemia among siblings |
|
|
|
|
|
|
|
|
|
| Trisomy 22 in a newborn with multiple malformations |
|
|
|
|
|
|
|
|
|
| C-band polymorphisms of chromosome 9: quantification by Ce-bands |
|
|
|
|
|
|
|
|
|
| Genesis and systematization of cardiovascular anomalies and analysis of skeletal malformations in murine trisomy 16 and 19 |
|
|
|
|
|
|
|
|
|
| Familial hypercholesterolemia in South African Afrikaners |
|
|
|
|
|
|
✓ |
|
Afrikaners |
| Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26?q27 |
|
|
|
|
|
|
|
|
|
| Diagnosis of genetic disease using recombinant DNA. Supplement |
|
|
|
|
|
|
|
|
|
| PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system |
|
|
|
|
|
|
|
|
|
| Congenital thyroxine binding globulin deficiency: incidence and inheritance |
|
|
|
|
|
|
|
|
|
| A fragile X female with Down syndrome |
|
|
|
|
|
|
|
|
|
| Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers |
|
|
|
|
|
|
|
|
|
| An apparent discrepancy between chain length and electrophoretic mobility of restriction fragments: a case of human mitochondrial DNA |
|
|
|
|
|
|
|
|
|
| Synergistic effect of aphidicolin and ethanol on the induction of common fragile sites |
|
|
|
|
|
|
|
|
|
| A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome |
|
|
|
|
|
|
|
|
|
| Deficiency of AMP deaminase in erythrocytes |
|
|
|
|
|
|
|
|
|
| The gene encoding vasoactive intestinal peptide is located on human chromosome 6p21→6qter |
|
|
|
|
|
|
|
|
|
| Sequences which flank an 11p deletion observed in an hepatocellular carcinoma map to 11p13 |
|
|
|
|
|
|
|
|
|
| Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities |
|
|
|
|
|
|
|
|
|
| Tentative assignment of hypomelanosis of Ito to 9q33→qter |
|
|
|
|
|
|
|
|
|
| Single cell translocations in couples with multiple spontaneous abortions |
|
|
|
|
|
|
|
|
|
| Nineteen of 26 cellular oncogenes precisely localized in the human genome map to one of the 83 bands involved in primary cancer-specific rearrangements |
|
|
|
|
|
|
|
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| Characterization of a series of electrophoretic and enzyme activity variants of human glucose-phosphate isomerase |
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| Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment |
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| Alpha-interferon and fragility at 16q22 |
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| C-band length variability and reproductive wastage |
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| Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes |
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| A monozygotic twin pair with Rett syndrome |
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| The patient with combined deficiency of neuraminidase and 21-hydroxylase |
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| Monosomy 21: a new case confirmed by in situ hybridization |
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| Genetic analysis of febrile convulsions: twin and family studies |
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| Hemoglobin M Iwate is caused by a C→T transition in codon 87 of the human α1-globin gene |
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| Population structure of Sicily: beta-thalassemia and HbS |
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| Prenatal diagnosis of a 46,XX,inv(12)pat/47,XX,i(Xq),inv(12)pat |
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| Detection of duchenne muscular dystrophy carriers: quantitative echography and creatine kinasemia |
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| DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated finnish population |
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✓ |
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Finnish population |