| Mutation |
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| Human Evolution |
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| Introduction |
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| Practical Applications of Human Genetics and the Biological Future of Mankind |
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| Human Chromosomes |
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| Gene Action |
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| Population Genetics |
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| Genetics and Human Behavior |
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| History of Human Genetics |
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| Formal Genetics of Man |
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| Excess of mental retardation and/or congenital malformation in reciprocal translocations in man |
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| Assignment of the gene for carboxypeptidase A to human chromosome 7q22?qter and to mouse chromosome 6 |
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| A model for effective pairing and recombination at meiosis based on early replicating sites (R-bands) along chromosomes |
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| Lysosomal ?-galactosidase in endothelial cell cultures established from a fabry hemizygous and normal umbilical veins |
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| Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype |
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| Sister chromatid exchanges in patients with precancerous and cancerous lesions of cervix uteri |
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| Retro-and prospective evaluation of dynamics of some mutational events |
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| Restriction fragment length polymorphisms in the D7S1 region of human chromosome 7 |
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| Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to human chromosome 12q |
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| Sister chromatid exchange in immature haemopoietic cells, T-and B-lymphocytes |
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| Maternal metaphases on direct preparation from chorionic villi and in cultures of villi cells |
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| Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD) |
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| Cytogenetic replication studies with short thymidine pulses in bromodeoxyuridine-substituted chromosomes of different mouse cell lines |
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| Announcements |
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| A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication |
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| The significance of pericentric inversions of chromosome 2 |
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| Detection and partial characterization of a variant form of cytosolic aldehyde dehydrogenase isozyme |
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| New cytogenetic techniques in the study of primate genome evolution |
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| Mothers of children with Down syndrome have higher herpes simplex virus type 2 (HSV-2) antibody levels |
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| New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct (14;14) and inv(14) |
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| Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome |
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| Confirmation of the close linkage between the loci for human apolipoproteins AI and AIV by the use of a cloned cDNA probe and two restriction site polymorphisms |
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| New insights into the effects of extra nucleolus organizer regions |
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| Altered cellular response to UV irradiation in a patient affected by premature ageing |
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| Tentative assignment of piebald trait gene to chromosome band 4q12 |
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| Familial fragile site found at the cancer breakpoint (1)(q32) |
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| Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis |
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| X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22 |
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| Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1 |
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| Announcements |
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| The human ribosomal RNA genes: structure and organization of the complete repeating unit |
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| Paracentric inversions in man |
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| Juvenile Huntington disease |
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| Telomeric fusion in pre-T-cell acute lymphoblastic leukemia |
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| Increased spindle resistance to antimicrotubule agents in women of high risk for meiotic nondisjunction |
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| Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane |
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| Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism |
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| Serum haptoglobin types and leukemia |
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| Haplotypes of the human apoprotein AI-CIII-AIV gene cluster in coronary atherosclerosis |
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| Two-dimensional gel analysis of proteins from human trisomy 21 fetal liver tissue after DEAE-Sepharose chromatography |
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| The chromosome breakpoint at 14q32 in an ataxia telangiectasia t(14;14) T cell clone is different from the 14q32 breakpoint in Burkitts and an inv(14) T cell lymphoma |
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| Linkage studies of X-linked recessive spastic paraplegia using DNA probes |
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| Esterase D polymorphism in a French-Canadian population |
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| Ring chromosome 21 in healthy persons: different consequencies in females and in males |
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| Different ? globin gene deletions among Black Americans |
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| Diagnosis of genetic disease using recombinant DNA |
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| The effect of caffeine on fragile X expression |
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| Characteristics and distribution of ? thalassemia haplotypes in South China |
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| The frequency of false-positive and false-negative results in the detection of Y-chromosomes in interphase nuclei |
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| ?-Globin gene polymorphism in the Saudi Arab population |
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| Ganglioside GM1 metabolism in living human fibroblasts with ?-galactosidase deficiency |
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| Familial lethal sleep apnea |
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| The pro?2 (V) collagen gene (COL5A2) maps to 2q14?2q32, syntenic to the pro?1 (III) collagen locus (COL3A1) |
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| Adaptation-like response to the chemical induction of sister chromatid exchanges in human lymphocytes |
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| Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia |
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| Extended polymorphism of the human esterase D isozyme system: description of a ?new? allele EsD*11 |
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| Announcements |
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| Indirect immunofluorescence of inactive centromeres as indicator of centromeric function |
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| Assignment of the human ?-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33?36 |
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| Premature chromosome condensation ?studies on human metastatic carcinoma cells |
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| Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing |
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| Maternal serum alpha-fetoprotein screening for neural tube defects and other disorders using an ultramicro-ELISA |
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| A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes |
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| In situ hybridization studies on variant t(2;8) translocations in Burkitt lymphoma lines |
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| The genes for human gastrin and cholecystokinin are located on different chromosomes |
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| Length polymorphism in the pro ?2(I) collagen gene: an alternative explanation in a case of Marfan syndrome |
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| Apert syndrome and fetal hydrocephaly |
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| Localization of the LDHA gene to 11p14?11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13 |
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| The plasminogen polymorphism in South African Negro populations: genetics and anthropogenetics |
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✓ |
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Negro |
| Measurements of the frequency of human erythrocytes with gene expression loss phenotypes at the glycophorin A locus |
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| Abnormal electrophoretic mobility of spectrin tetramers in hereditary elliptocytosis |
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| An elongated segment of DNA observed between two human ? globin genes |
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| Molecular detection of a translocation (Y;15) in a 45,X male |
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| Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells |
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| Localisation of the gene for Hunter syndrome on the long arm of X chromosome |
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| Chromosome studies in 2136 couples with spontaneous abortions |
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| Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency |
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| A linkage study of Emery-Dreifuss muscular dystrophy |
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| Partial trisomy 20p resulting from a recombination of a familial pericentric inversion |
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| Localization of the gene for human erythrocyte glycophorin C to chromosome 2, q14–q21 |
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| New regional localisations for HAGH and PGP on human chromosome 16 |
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| A highly polymorphic locus on chromosome 16q revealed by a probe from a chromosome-specific cosmid library |
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| Alpha-thalassemia in Papua New Guinea |
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| Oxygen-induced cytogenetic instability in normal human lymphocytes |
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| Prematurely condensed human sperm chromosomes after in vitro fertilization (IVF) |
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| The effect of 1-?-d-arabinofuranosyl-cytosine on the expression of the common fragile site at 3p14 |
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| Aberrant breakpoints in chronic myelogenous leukaemia; oncogenes and fragile sites |
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| Choroideremia: further evidence for assignment of the locus to Xq13?Xq21 |
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| Cell culture studies on neurofibromatosis (von Recklinghausen) |
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| Origin of new mutations in Duchenne muscular dystrophy |
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| Announcements |
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| In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes |
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| Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy |
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| Congenital malformations and genetic diseases in Iranian infants |
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| Severe short-limb dwarfism resembling Grebe chondrodysplasia |
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| Mid-trimester ultrasonographic diagnosis of early manifesting ?adult? form of polycystic kidney disease |
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| Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)] |
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| Molecular characterization of HbH disease in the Cuban population |
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| G-banding of human sperm chromosomes |
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| Dicentric chromosomes and the inactivation of the centromere |
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| Assignment of the human tyrosine aminotransferase gene to chromosome 16 |
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| Assessment of small polymorphisms in defined human collagen gene segments |
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| C3 and Bf complement types in chronic renal failure |
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| The Alu I-induced bands in metaphase chromosomes of orangutan (Pongo pygmaeus) |
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| A new synaptic anomaly: irregular synaptonemal complexes |
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| Chromosomal sublocalization of the human p97 melanoma antigen |
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| Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis |
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| Cytogenetic analysis of chorionic villi: a technical assessment |
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| Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma |
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| Hereditary cerebellar ataxia and genetic linkage with HLA |
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| Chromosome studies in human in vitro fertilization |
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| Phenotypic variation in the phosphotransferase activity of human red cell acid phosphatase (ACP1) |
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| Genetic polymorphism of human complement component C81 in the Japanese population |
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| The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome |
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| Announcement |
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| Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22) |
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| Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians |
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| Different baseline sister chromatid exchange levels in density fractionated human lymphocytes |
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| Bloom's syndrome |
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Ashkenazi Jewish |
| De novo 21/21 translocation Down syndrome |
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| The centromere index and relative length of human high-resolution G-banded chromosomes |
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| Infertility associated with two accessory bisatellited chromosomes |
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| Human chromosomal polymorphism |
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| Human chromosomal polymorphism |
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| Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia |
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| Studies on three rare fragile sites |
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| Use of catalase polymorphisms in the study of sporadic aniridia |
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| Genetic polymorphism of coagulation factor XIII B subunit in the Japanese population: description of three new rare alleles |
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| DNA-diagnosis of sickle cell anemia from chorionic villi: possible influence of maternal cell contamination |
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| First trimester fetal karyotyping: one thousand diagnoses |
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| The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22?q24) by somatic cell hybrid analysis and in situ hybridization |
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| βA and βthal DNA haplotypes in Sicily |
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| X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from th |
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| Oncogenes and the mammalian X chromosome |
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| Morphology alone does not make an isochromosome |
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| Prophase pairing in a mosaic 18p-;iso 18q human female foetus studied by surface spreading |
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| Assignment of the human homologue of Pim-1, a mouse gene implicated in leukemogenesis, to the pter-q12 region of chromosome 6 |
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| Improved technique for the study of meiosis in ejaculate: results of the first 50 consecutive cases |
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| Prenatal diagnosis and the Prader-Willi syndrome |
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| Two different forms of maple syrup urine disease in a single family |
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| Intensity heteromorphisms of human chromosome 15p by DA/DAPI technique |
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| Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization |
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| Ethnic variation in vitamin D-binding protein (GC): a review of isoelectric focusing studies in human populations |
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| Familial pericentric inversion of chromosome 12 |
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| High susceptibility for diploidy in ovulated oocytes from XO mice |
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| Assignment of the gene for dyskeratosis congenita to Xq28 |
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| A new allele at the human diaphorase DIA3 locus: DIA3 5 |
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| A product of the C4B locus lacking hemolytic activity |
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| Human DNA sequences isolated with an immunoglobulin switch region probe: sequence, chromosomal localization, and restriction fragment length polymorphisms |
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| Choroideremia-locus maps between DXS3 and DXS11 on Xq |
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| Chromosomes in acute nonlymphocytic leukemia |
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| Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry |
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| Maternal 3:1 disjunction in a tranlocation 9/17 |
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| Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A?T 80 Asp?Asn) |
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Japanese neonates |
| Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia |
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| The most common fragile site in man is 3p14 |
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| Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique |
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| Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chr |
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| No evidence for linkage between the loci for coagulation factor XIII-A and HLA |
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| Cutaneous manifestation of lethal genes |
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| The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19 |
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| The rate of chromosome breakage is age dependent in lymphocytes of adult controls |
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| The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene ?a useful marker for human chromosome 2 |
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| A routine method for the establishment of permanent growing lymphoblastoid cell lines |
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| A polymorphic locus on the long arm of chromosome 20 defined by two probes from a single cosmid |
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| The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12 |
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| A further improved method for identifying heteromorphism of acrocentric chromosomes |
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| Inverted neurons in agyria |
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| ?Excess of mental retardation and/or congenital malformation in reciprocal translocations in man? (Fryns et al. 1986) |
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| Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan |
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| Clustered GATA repeats (Bkm sequences) on the human Y chromosome |
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| Bkm sequences are polymorphic in humans and are clustered in pericentric regions of various acrocentric chromosomes including the Y |
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| Frequency of the fragile X syndrome in Japanese mentally retarded males |
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| Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity |
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| Studies of a DNA marker (G8) genetically linked to Huntington disease in British families |
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| A subpopulation of t(2;14)(p11;q32) cells in ataxia telangiectasia B lymphocytes |
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| Short arm dicentric Y chromosome with associated statural defects in a sterile man |
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| First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination |
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| The polymorphism of desialyzed ?2HS-glycoptein (AHS): isoelectric focusing in 2.5 M urea as a method for identification of genetic variants |
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| Announcements |
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| Yqs Resulting from a reciprocal Y;15 translocation in the father of a 46,X,i(Xq) girl |
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| DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family |
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| The single copy gene coding for human ?1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13 |
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| Assignment of a human beta-crystallin gene to 17cen-q23 |
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| Regional localisation of X chromosome short arm probes |
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| Orosomucoid (ORM) typing by isoelectric focusing: evidence for two structural loci ORM1 and ORM2 |
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| The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation |
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✓ |
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US blacks |
| Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II |
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| Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families |
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| 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I |
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| De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy |
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| Autosomal dominant macroglossia in two unrelated families |
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| Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity |
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| A 45,X male with a Yp/18 translocation |
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| Isolation of transcribed DNA sequences from chromosome 21 using mouse fetal cDNA |
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| Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature |
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| ApoA-I related DNA polymorphism in humans with coronary heart disease |
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| Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28}: further linkage data, heterogeneity testing, and risk estimation |
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| Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome) |
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| Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells |
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| Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical |
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| Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1 |
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| Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of (?1-antitrypsin) |
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| Paracentric inversions in human chromosome 7 |
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| Di George syndrome and 22q11 rearrangements |
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| Rare, polymorphic, and common fragile sites: a classification |
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| Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser) |
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| Polymorphism of 6-PGD in South Korea: a new genetic variant 6-PGD Korea |
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| The nuclear skeleton and the spatial arrangement of chromosomes in the interphase nucleus of vertebrate somatic cells |
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| The evolution of the ?- and ?-globin gene clusters in human populations |
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| Repeated DNA sequences in the distal long arm of the human X chromosome |
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| Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody |
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| Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen |
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| Hemoglobin abnormalities |
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| Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency |
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| The fragile site (16) (q22) |
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| Cytogenetic effects of methyl isocyanate exposure in Bhopal |
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| Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males |
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| Polysomy of chromosome 7 is correlated with overexpression of the erbB oncogene in human glioblastoma cell lines |
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| Origin of teratomas and twins |
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| Assignment of the catechol-O-methyltransferase gene to human chromosome 22 in somatic cell hybrids |
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| Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion |
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| Chromosome changes in human monocytic cell lines with in vitro spontaneous malignant transformation |
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| Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus |
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| Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
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| Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci |
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| Effect of the esterase-D phenotype on its in vitro enzyme activity |
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| Polymorphism of human red cell glyoxalase I in six ethnic groups of China |
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✓ |
|
six ethnic groups of China |
| Detection of bromodeoxyuridine-incorporation in mammalian chromosomes by a bromodeoxyuridine-antibody |
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| Unusual supernumerary chromosomes: types encountered in a referred population, and high incidence of associated maternal chromosome abnormalities |
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| Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily |
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| A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes |
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| Deletions of the esterase D locus from a survey of 200 retinoblastoma patients |
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| haplotypes identified by DNA polymorphisms at the apolipoprotein A-1 and C-III loci and hypertriglyceridaemia |
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| Identification of trophoblast in chorionic villi biopsy samples |
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| Direct estimation of the non-disjunction rate at first meiotic division in the human male |
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| Variation in the frequency of sister chromatid exchanges in repeated human lymphocyte cultures |
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| Familial sinus node disease and degenerative myopia?a new hereditary syndrome? |
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| 18p? Syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence |
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| Isochromosome 15 with behaviour disorder |
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|
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| Announcements |
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| Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and ?1-acid glycoprotein to chromosome 9 |
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| Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen |
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| Location of the X inactivation center in primates and other mammals |
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| The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation |
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| Different inducibility and possible significance of several concomitant ?fragile sites? in two brothers |
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| A Taq1 ?-globin DNA polymorphism: an African-specific marker |
|
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|
✓ |
|
African-specific |
| Fluctuation of a clone 46,XX,i(7q) in bone marrow in a Fanconi anaemia |
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| Human chromosome hot points |
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| Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria |
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| Leftward deletion ?-thalassaemia in the Saudi Arabian population |
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| The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients |
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| Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19 |
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| Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19 |
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| Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis |
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| A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia |
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| ?-Globin gene polymorphism in Saudis ? triple Hpa I fragments |
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| De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis |
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| Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13) |
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| Chromosome 7 short arm deletion, 7p21?pter |
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| Complex chromosomal rearrangement and multiple spontaneous abortions |
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| Approaches to the prenatal diagnosis of the Prader-Willi syndrome |
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| On the significance of pericentric inversions of chromosome 2 |
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| Reply to the letter from J. Wahlstr�m and M. Kyllerman |
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| Mitochondrial DNA polymorphism in Japanese |
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| Trisomy 21 Down syndrome |
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| Segregation analysis of rare autosomal fragile sites |
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| Changes in the incidence of Down syndrome in Sweden during 1968?1982 |
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| Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1 |
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| Assignment of the human tissue-type plasminogen activator gene (PLAT) to chromosome 8 |
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| Sister chromatid exchange in highly purified human B and T lymphocytes |
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| A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31 |
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| Cytogenetic analysis of early human abortuses after preparation of chromosomes directly from chorionic villi |
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| Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa |
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|
✓ |
|
Indian population |
| DNA finger printing by oligonucleotide probes specific for simple repeats |
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| A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus |
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| Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12 |
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| Partial adenosine deaminase deficiency: another family from southern Africa |
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| The most common fragile site in man is 3p14 |
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