| A Burkitt-lymphoma variant translocation (2p-; 8q+) in a patient with ALL, L3 (Burkitt type) |
|
|
|
|
|
|
|
|
|
| Potter's syndrome and chromosomal anomalies |
|
|
|
|
|
|
|
|
|
| Langer-Giedion syndrome and deletion of the long arm of chromosome 8 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| An improved method for Y-body identification and confirmation of a high incidence of YY sperm nuclei |
|
|
|
|
|
|
|
|
|
| Characterization of a complex philadelphia translocation (1p-;9q+;22q-) by gene mapping |
|
|
|
|
|
|
|
|
|
| Lymphocyte chromosome survey in 42 patients with retinoblastoma: Effort to detect 13q14 deletion mosaicism |
|
|
|
|
|
|
|
|
|
| Isoelectric focusing of Gc (vitamin D binding globulin) in parentage testing |
|
|
|
|
|
|
|
|
|
| Cell culture studies on neurofibromatosis (von Recklinghausen) |
|
|
|
|
|
|
|
|
|
| Hereditary porphobilinogen synthase deficiency in human associated with acute hepatic porphyria |
|
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|
|
|
|
|
|
| Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations |
|
|
|
|
|
|
|
|
|
| The deafness, onycho-osteo-dystrophy, mental retardation syndrome |
|
|
|
|
|
|
|
|
|
| Partial 11q trisomy syndrome |
|
|
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|
|
|
|
|
|
| Fanconi's anemia: Anomaly of enzyme passage through the nuclear membrane? |
|
|
|
|
|
|
|
|
|
| Sexual development of patients with isochromosomes for the long arm of the X chromosome |
|
|
|
|
|
|
|
|
|
| Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization |
|
|
|
|
|
|
|
|
|
| Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease) |
|
|
|
|
|
|
|
|
|
| New form of adrenoleukodystrophy |
|
|
|
|
|
|
|
|
|
| Genetic polymorphism of the complement C2 in Japanese |
|
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|
|
|
|
| A metastatic malignant melanoma with 24 chromosomes |
|
|
|
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|
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|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Incomplete trisomy 22 |
|
|
|
|
|
|
|
|
|
| Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13→3q12 |
|
|
|
|
|
|
|
|
|
| Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q |
|
|
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|
|
|
|
|
|
| Detection of cystic fibrosis homozygotes and heterozygotes by serum isoelectrofocusing |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies in a selected group of mentally retarded children |
|
|
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|
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|
|
|
|
| Investigations into sister chromatid exchange in patients under cytostatic therapy |
|
|
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|
|
|
|
| Pericentric inversion of chromosome 1 in three sterile brothers |
|
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|
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|
|
| Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma |
|
|
|
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|
|
|
| Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)] |
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|
|
|
|
|
|
| A new meiotic mutation: Desynapsis of individual bivalents |
|
|
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|
|
|
|
|
|
| Duplication 15q22�15qter and its phenotypic expression |
|
|
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|
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|
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|
|
| Incomplete trisomy 22 |
|
|
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|
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|
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|
|
| Reduction of physical assignments to a standard lod table: Chromosome 1 |
|
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|
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|
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|
|
| Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote |
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|
|
| Gonadal agenesis in a phenotypically normal female with positive H-Y antigen |
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|
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|
|
| Announcement |
|
|
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|
|
| Ring chromosome 16 |
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|
|
| Sex limited ahaptoglobinaemia |
|
|
|
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|
|
|
|
|
| Quantification of C-band polymorphisms by centromeric elevations (Ce-bands) |
|
|
|
|
|
|
|
|
|
| HLA antigens in a sample of the Spanish population: Common features among Spaniards, Basques, and Sardinians |
|
|
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|
|
|
✓ |
|
Spanish population; Spaniards; Basques; Sardinians |
| X-linked mental retardation with the fragile X. A study of 15 families |
|
|
|
|
|
|
|
|
|
| Partial inversion of the secondary constriction of chromosome 9. Does it exist? |
|
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|
|
|
| Nondisjunction of a translocation-chromosome t(4;13) |
|
|
|
|
|
|
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|
|
| NORs and statellite associations in a family with 13/14 translocation |
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|
|
|
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|
|
| Cytogenetic effects of cigarette smoke condensates in vitro and in vivo |
|
|
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|
|
|
|
| Meiotic arrest at first spermatocyte level: A new inherited infertility disorder |
|
|
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|
|
|
|
|
|
| Population heteromorphisms of Ag-stained nucleolus organizer regions (NORs) in the acrocentric chromosomes of East Indians |
|
|
|
|
|
|
✓ |
|
East Indians |
| Heterozygote detection in MLD. Allelic mutations at the ARA locus |
|
|
|
|
|
|
|
|
|
| Polymorphism of the A subunit of coagulation factor XIII in the pacific region. Description of new phenotypes |
|
|
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|
|
|
|
|
| Variability of the nucleolar organizer activity in human lymphocytes via Ag-staining |
|
|
|
|
|
|
|
|
|
| A search for the indianapolis-variant of human alcohol dehydrogenase in liver autopsy samples from North Germany and Japan |
|
|
|
|
|
|
|
|
|
| Complex balanced translocation of chromosomes 2,3, and 13 |
|
|
|
|
|
|
|
|
|
| A simple method to demonstrate the fragile X chromosome in fibroblasts |
|
|
|
|
|
|
|
|
|
| Translocations involving chromosome 12 |
|
|
|
|
|
|
|
|
|
| Properdin factor B polymorphism in continental Italy and Sardinia |
|
|
|
|
|
|
|
|
|
| Pi Mheerlen, a Pi M allele resulting in very low a 1-antitrypsin serum levels |
|
|
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|
|
|
|
|
|
| pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase |
|
|
|
|
|
|
|
|
|
| Paternal age and Down's syndrome data from prenatal diagnoses (DFG) |
|
|
|
|
|
|
|
|
|
| Frequency and types of induced and spontaneous chromosome aberrations in relation to cell kinetics |
|
|
|
|
|
|
|
|
|
| Biological and cultural determinants of immunoglobulin levels in a Brazilian population with Chagas' disease |
|
|
|
|
|
|
|
|
|
| Absence of linkage between transcobalamin II and ABO |
|
|
|
|
|
|
|
|
|
| Is it always the same NOR that is more active in a pair of acrocentrics with distinct AG-stainings? |
|
|
|
|
|
|
|
|
|
| Mitotic crossing-over and segregation in man |
|
|
|
|
|
|
|
|
|
| Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population |
|
|
|
|
|
|
|
|
|
| Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach |
|
|
|
|
|
|
|
|
|
| A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique |
|
|
|
|
|
|
|
|
|
| Parental origin of chromosomes in Down's syndrome |
|
|
|
|
|
|
|
|
|
| The length of silver-stained human autosomal pachytene chromosomes |
|
|
|
|
|
|
|
|
|
| Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band |
|
|
|
|
|
|
|
|
|
| Inbreeding and the genetic control of nondisjunction |
|
|
|
|
|
|
|
|
|
| Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Human inherited marker chromosome 22 short-arm enlargement: Investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association |
|
|
|
|
|
|
|
|
|
| Fertility and haemoglobin genotypes: A population study in upper Assam (India) |
|
|
|
|
|
|
|
|
|
| An improved method of typing hair sheath cells using the PGM3 locus following starch gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Trisomy 22 mechanisms |
|
|
|
|
|
|
|
|
|
| Genetic mapping: Chromosomes 2?5 |
|
|
|
|
|
|
|
|
|
| Age-dependency of somatic selection in South African Negro G-6-PD heterozygotes |
|
|
|
|
|
|
✓ |
|
Negro |
| Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation |
|
|
|
|
|
|
|
|
|
| An unusual pedigree with retinoblastoma. Does it shed light on the delayed mutation and host resistance theories? |
|
|
|
|
|
|
|
|
|
| The occurrence of the Philadelphia chromosome in essential thrombocytosis |
|
|
|
|
|
|
|
|
|
| X-linked ocular albinism |
|
|
|
|
|
|
|
|
|
| A possible association of Y chromosome heterochromatin with stature |
|
|
|
|
|
|
|
|
|
| Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts |
|
|
|
|
|
|
|
|
|
| Monosomy 1pter |
|
|
|
|
|
|
|
|
|
| Retinoblastoma, gross internal malformations, and deletion 13q14→q31 |
|
|
|
|
|
|
|
|
|
| Mid-prophase human chromosomes. The attainment of 2000 bands |
|
|
|
|
|
|
|
|
|
| Combined action of isoniazid and para-aminosalicylic acid in vivo on human chromosomes in lymphocyte cultures |
|
|
|
|
|
|
|
|
|
| Structural anomalies of the X chromosome and inactivation center |
|
|
|
|
|
|
|
|
|
| Note |
|
|
|
|
|
|
|
|
|
| Multiple molecular forms of lysosomal enzymes in mucolipidosis II |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy |
|
|
|
|
|
|
|
|
|
| Incomplete trisomy 22 |
|
|
|
|
|
|
|
|
|
| Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21) |
|
|
|
|
|
|
|
|
|
| Satellite association in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Chromosomal investigations in epileptic children during long-term therapy with phenytoin or primidone |
|
|
|
|
|
|
|
|
|
| 4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat |
|
|
|
|
|
|
|
|
|
| Satellite DNA and cytological staining patterns in heterochromatic inversions of human chromosome 9 |
|
|
|
|
|
|
|
|
|
| The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity |
|
|
|
|
|
|
|
|
|
| Mental development of unselected children with sex chromosome abnormalities |
|
|
|
|
|
|
|
|
|
| H-Y antigen in Turner's syndrome patients with different sex chromosome constitutions |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of Hurler's syndrome?Biochemical studies on the affected fetus |
|
|
|
|
|
|
|
|
|
| Transferrin (Tf) subtyping on agarose: A new technique for isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Characterization of cells of amniotic fluids by immunological identification of intermediate-sized filaments: Presence of cells of different tissue origin |
|
|
|
|
|
|
|
|
|
| Population, formal genetics, and linkage relations of the phosphoglycolate phosphatase (PGP)?E.C.3.1.3.18 |
|
|
|
|
|
|
|
|
|
| A rapid culture-harvest protocol for amniotic cell cultures |
|
|
|
|
|
|
|
|
|
| A method for the sequential study of synaptonemal complexes by light and electron microscopy |
|
|
|
|
|
|
|
|
|
| Human chromosomal heteromorphisms in american blacks |
|
|
|
|
|
|
|
|
|
| An electrophoretic study of glycolytic enzymes in a human population living at high altitude: the Aymara of northern Chile and western Bolivia |
|
|
|
|
|
|
|
|
|
| Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns |
|
|
|
|
|
|
|
|
|
| Polymorphism of 5-methylcytosine-rich DNA in human acrocentric chromosomes |
|
|
|
|
|
|
|
|
|
| Correlations between the clinical course, characteristics of blast cells, and karyotype patterns in chronic myeloid leukemia |
|
|
|
|
|
|
|
|
|
| Demonstration of sister chromatid differentiation in human amniotic fluid cells after partial synchronization with BrdU or dT surplus |
|
|
|
|
|
|
|
|
|
| Activation of cyclophosphamide using perfused rat liver system and induction of sister chromatid exchanges in vitro |
|
|
|
|
|
|
|
|
|
| Chromosomes in the Cornelia de Lange syndrome |
|
|
|
|
|
|
|
|
|
| X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter |
|
|
|
|
|
|
|
|
|
| Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids |
|
|
|
|
|
|
|
|
|
| Familial dwarfism with high IR-GH: Report of two affected sibs with genetic and epidemiologic considerations |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange in newborns |
|
|
|
|
|
|
|
|
|
| In vitro differentiation of diakinesis figures in human testis |
|
|
|
|
|
|
|
|
|
| Sister chromatid differentiation and isolabeling of chromosomes |
|
|
|
|
|
|
|
|
|
| Evidence for methylation of inactive human rRNA genes in amplified regions |
|
|
|
|
|
|
|
|
|
| Structural differences in pericentric inversions. Application to a model of risk of recombinants |
|
|
|
|
|
|
|
|
|
| The investigation of late cytogenetic effects in children with acute leukaemia in long remission and off all chemotherapy |
|
|
|
|
|
|
|
|
|
| Screening method for prolidase deficiency |
|
|
|
|
|
|
|
|
|
| Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect |
|
|
|
|
|
|
|
|
|
| Bf polymorphism. A very fast variant from Nigeria |
|
|
|
|
|
|
|
|
|
| Family studies of complement C4 and HLA in man |
|
|
|
|
|
|
|
|
|
| Translocations of chromosome 12 |
|
|
|
|
|
|
|
|
|
| Familial lecithin-cholesterol acyltransferase: Identification of heterozygotes with half-normal enzyme activity and mass |
|
|
|
|
|
|
|
|
|
| HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency |
|
|
|
|
|
|
|
|
|
| Expression of aromatic polycyclic hydrocarbon-induced monooxygenase (aryl hydrocarbon hydroxylase) in man x mouse hybrids is associated with human chromosome 2 |
|
|
|
|
|
|
|
|
|
| Paternal or maternal origin of human i(Xq) isochromosomes |
|
|
|
|
|
|
|
|
|
| Genetic polymorphism of the B subunit of human coagulation factor XIII: Another classification |
|
|
|
|
|
|
|
|
|
| On the significance of C2, C4, and factor B polymorphisms in disease |
|
|
|
|
|
|
|
|
|
| Human Cytogenetic Nomenclature |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange (SCE) and structural chromosome aberration in mutagenicity testing |
|
|
|
|
|
|
|
|
|
| Finger ridge-count variation in 45,X Turner's syndrome |
|
|
|
|
|
|
|
|
|
| Age, area, and acheiropody |
|
|
|
|
|
|
|
|
|
| Autosomal recessive ?uncomplicated? profound childhood deafness in an arabic family with high consanguinity |
|
|
|
|
|
|
✓ |
|
arabic |
| Genetic and biochemical studies with ataxia telangiectasia |
|
|
|
|
|
|
|
|
|
| X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers |
|
|
|
|
|
|
|
|
|
| Analysis of the red cell membrane in a family with hereditary elliptocytosis — total or partial of protein 4.1 |
|
|
|
|
|
|
|
|
|
| Frequency of human Aγ75Thr globin chain in a population from Tunisia |
|
|
|
|
|
|
|
|
|
| Variation in pattern and frequency of acrocentric association in normal and trisomy-21 individuals |
|
|
|
|
|
|
|
|
|
| Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis |
|
|
|
|
|
|
|
|
|
| Isoelectric focusing of red cell phosphoglucomutase (E.C.:2.7.5.1) at the PGM1 locus in a French-Canadian population |
|
|
|
|
|
|
✓ |
|
French-Canadian population |
| Genetic disposition to alcoholism. An EEG study in alcoholics and their relatives |
|
|
|
|
|
|
|
|
|
| Human transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia |
|
|
|
|
|
|
|
|
|
| Complex segregation analysis of the locus for beta-aminoisobutyric acid excretion (BAIB) |
|
|
|
|
|
|
|
|
|
| Group-specific component (Gc) subtypes in the Chinese population of Hong Kong |
|
|
|
|
|
|
|
|
|
| Gc subtyping in Malaysians and in Indonesians from North Sumatra |
|
|
|
|
|
|
|
|
|
| Red cell antigen, serum protein, and red cell enzyme polymorphisms in inhabitants of the Jimi Valley, Western Highlands, New Guinea |
|
|
|
|
|
|
|
|
|
| Rare phenotypes of the phosphoglucomutase locus 1 detectable by isoelectric focusing on Cellogel |
|
|
|
|
|
|
|
|
|
| Discrepancy between G and R bands |
|
|
|
|
|
|
|
|
|
| Steroid sulphatase levels in XX males, including observations on two affected cousins |
|
|
|
|
|
|
|
|
|
| Balanced reciprocal translocation t(1;16)(q12;q11) in two generations of a family |
|
|
|
|
|
|
|
|
|
| Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15, and the Y by D 287/170 |
|
|
|
|
|
|
|
|
|
| Familial factors in early deaths: Twins followed 30 years to ages 51–61 in 1978 |
|
|
|
|
|
|
|
|
|
| Polymorphisme electrophorétique de la post-albumine et de la transferrine dans les différentes sous-espèces de singes anthropoïdes |
|
|
|
|
|
|
|
|
|
| Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB |
|
|
|
|
|
|
|
|
|
| Descriptive neuropathology of chromosomal disorders in man |
|
|
|
|
|
|
|
|
|
| Prenatal detection of an accessory chromosome identified as an inversion duplication (15) |
|
|
|
|
|
|
|
|
|
| H-Y antigen expression in a case of mixed gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| The various phenotypes in Xp deletion. Observations in eleven patients |
|
|
|
|
|
|
|
|
|
| The chromosomal distribution of repetitive DNA sequences within the human ? globin gene cluster |
|
|
|
|
|
|
|
|
|
| Serum concentrations of vitamin D-binding protein (Group-specific component) in cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Christ-Siemens-Touraine syndrome. Investigations on two large brazilian kindreds with a new estimate of the manifestation rate among carriers |
|
|
|
|
|
|
|
|
|
| Ultrathin-layer isoelectrofocusing for rapid diagnosis of protein variants |
|
|
|
|
|
|
|
|
|
| Sweat pore counts in ectodermal dysplasias |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Preferential maternal derivation in inv dup(15) |
|
|
|
|
|
|
|
|
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| The ESD polymorphism: Further studies of the ESD2 and ESD5 allele products |
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| Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations |
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| The pattern of radiation-induced transmissible aberrations in a human cell culture |
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| Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT) |
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| Segregation analysis in hereditary retinoblastoma |
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| Meiotic findings in human reciprocal 1;3 translocation |
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| Genetic regulation of ? gene expression: Study of the interaction of ?-thalassemia with heterocellular HPFH |
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| Genetic variation of hexosaminidase A and arylsulfatase A activity. Correlation study in amnio-maternal paris of cultured cells |
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| The genetic structure of the kuwaiti population II: The distribution of Q-band chromosomal heteromorphisms |
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| A simple method for improving the reproductibility of the R-banding technique |
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| Prenatal monitoring for wolman's disease in a pregnancy at risk |
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| Letter to the editor |
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| Counterstain-enhanced chromosome banding |
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| Absence of H-Y antigen in an XY female with campomelic dysplasia |
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| Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding |
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| Relation between sister chromatid exchange, cell proliferation and proportion of B and T cells in human lymphocyte cultures |
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| Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome |
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| Chronic myelogenous leukemia with translocations (3q-;9q+) and (17q-;22q+). Possible crucial cytogenetic events in the genesis of CML |
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| H-Y antigen expression in different tissues from transsexuals |
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| Quantitative analysis of C bands in chromosomes 1, 9, and 16 of Brazilian Indians and Caucasoids |
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✓ |
|
Caucasoids; Brazilian Indians |
| Application of monoclonal anti-HY antibody for human H-Y typing |
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| Duplication deficiency as the result of meiotic segregation of a maternal InV (10) |
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| Cell proliferation and chromosomal damage in human leukocytes: dicentries and premature chromosome condensations in first, second, and third mitoses after X-irradiation |
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| Trisomy 18q |
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| The effect of donor sex and age on the number of sister chromatid exchanges in human lymphocytes growing in vitro |
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| Oogenesis in antenatal development in man |
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| High resolution R- and G-banding on the same preparation |
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| Growth induction in cystic fibrosis fibroblasts with low dexamethasone concentrations. Experience with application to genotyping |
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| The origin of telocentric chromosomes in man: A girl with tel(Xq) |
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| Clinical anophthalmia |
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| Announcements |
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| Erratum |
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| Genetics of Wilms' tumor |
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| Symmetrical replication patterns and sex chromatin bodies formation of an idic(X)(p22.3::p22.3) chromosome |
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| H-Y antigen negative patients with testicular tissue and 46,XY karyotype |
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| Effects of radical-scavenging enzymes and reduced oxygen exposure on growth and chromosome abnormalities of Werner syndrome cultured skin fibroblasts |
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| Defining the locus of origin of a genetically determined electrophoretic variant of a multilocus enzyme system; the calcutta-1 of human LDH system is a B-locus variant |
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| Reduced uptake and incorporation of 3H-thymidine in fanconi anemia fibroblasts |
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| Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13 |
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| Inheritance and genetic linkage of transcobalamin II |
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| Gc revisited: Six further Gc-phenotypes delineated by isoelectric focusing and by polyacrylamide gel electrophoresis |
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| Linkage of GLO with HLA in a sample of the Spanish population |
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| Chromosome-damaging action of isoniazid and thiacetazone on human lymphocyte cultures in vivo |
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| Alpha-1-antitrypsin (Pi) types in Korean and Chinese populations |
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✓ |
|
Korean and Chinese populations |
| Gd(-) Muret and Gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism |
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| Cases observed |
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| Annoucements |
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| Assignment of the glyoxalase II gene (HAGH) to human chromosome 16 |
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| Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic(Xq) |
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| Glucose 6-Phosphate dehydrogenase variants: A unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge |
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| Evidence for the derivation of individual hair roots from three progenitor cells |
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| A high incidence of mitotic chiasmata in endoreduplicated Bloom's syndrome cells |
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| The ataxia telangiectasia clastogenic factor is a low molecular weight peptide |
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| Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor |
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| Glucose-6-phosphate dehydrogenase deficiency in Iraq |
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| Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members |
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| Congenital osteogenesis imperfecta in three sibs |
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| Familial Translocation t(1;17) |
|
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| Phenotypic manifestation and pericentric inversion 6 |
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| Multiple Y-chromosomal aberrations in a patient with mixed gonadal dysgenesis of XO/XY Type |
|
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| Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp |
|
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|
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| Erratum zu: Zum praktischen Wert des Lymphozytenmodells für die pathogenetische Beurteilung einzelner Serumcholesterinfraktionen des Menschen bei der autosomal-monogenen Hypercholesterinämie |
|
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|
|
| Effect of incubation temperature on the frequency of sister chromatid exchanges in Bloom's syndrome lymphocytes |
|
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|
|
| Non random position of metaphasic chromosomes: A study of radiation induced and constitutional chromosome rearrangements |
|
|
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|
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|
|
| Ultrasonic induction of sister chromatid exchanges in human lymphocytes |
|
|
|
|
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|
|
| Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects |
|
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|
|
| Comparison of mathematical models for the maternal age dependence of Down's syndrome rates |
|
|
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|
|
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|
|
| Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: Chromosome subtype, proportion inherited, mutation rates, and sex ratio |
|
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|
|
|
|
| BUdR-Giemsa labeling and satellite association in human leukocytes |
|
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|
|
| Homozygous haemoglobin constant spring: A need for revision of concept |
|
|
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|
|
| Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder |
|
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|
|
| The requirements for sexual reproduction |
|
|
|
|
|
|
|
|
|
| A quantitative radioimmunoassay for membranous and soluble H-Y antigen typing |
|
|
|
|
|
|
|
|
|
| Immunoprecipitation of human H-Y antigen |
|
|
|
|
|
|
|
|
|
| Conserved repeated DNA sequences in vertebrate sex chromosomes |
|
|
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|
|
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|
|
| Conservatism of the H-Y/H-W receptor |
|
|
|
|
|
|
|
|
|
| Role of gonadal hormones in development of the sexual phenotypes |
|
|
|
|
|
|
|
|
|
| XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis |
|
|
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|
|
|
|
|
|
| The etiology of maleness in XX men |
|
|
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|
|
|
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|
|
| The gonads of human true hermaphrodites |
|
|
|
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|
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|
|
|
| The biochemical basis for genotyping 21-hydroxylase deficiency |
|
|
|
|
|
|
|
|
|
| Sex-reversed XY females with campomelic dysplasia are H-Y negative |
|
|
|
|
|
|
|
|
|
| Rapid irradiation procedure for obtaining permanent differential staining of sister chromatids and aspects of its underlying mechanism |
|
|
|
|
|
|
|
|
|
| Serological evidence for H-Y antigen in XO-female mice |
|
|
|
|
|
|
|
|
|
| A family with a satellited Yq chromosome |
|
|
|
|
|
|
|
|
|
| Cytogenetic findings in 122 couples with recurrent abortions |
|
|
|
|
|
|
|
|
|
| Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency |
|
|
|
|
|
|
|
|
|
| Mitotic and meiotic analysis of a reciprocal translocation t(Y;3) in an azoospermic male |
|
|
|
|
|
|
|
|
|
| Sequence of centromere separation: Analysis of mitotic chromosomes in man |
|
|
|
|
|
|
|
|
|
| A deletion in chromosome 22 can cause digeorge syndrome |
|
|
|
|
|
|
|
|
|
| Observations on the effect of X-ray alone and in combination with ultrasound on human chromosomes |
|
|
|
|
|
|
|
|
|
| Population screening for the human adult lactase phenotypes with a multiple breaths version of the breath hydrogen test |
|
|
|
|
|
|
|
|
|
| Distribution of the lactase phenotypes in the population of the Democratic Republic of the Sudan |
|
|
|
|
|
|
|
|
|
| Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts |
|
|
|
|
|
|
|
|
|
| Zum praktischen Wert des Lymphozytenmodells f�r die pathogenetische Beurteilung einzelner Serumcholesterinfraktionen des Menschen bei der autosomal-monogenen Hypercholesterin�mie |
|
|
|
|
|
|
|
|
|
| Use of genetic markers to certify fetal origin of cultured amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Adenylate kinase deficiency and malignant hyperthermia |
|
|
|
|
|
|
|
|
|
| Acute lymphocytic and myelomonocytic leukemia associated with low platelet counts and a 21q- marker chromosome |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchanges and heterochromatin |
|
|
|
|
|
|
|
|
|
| Pericentric inversions of chromosome 12 in two families |
|
|
|
|
|
|
|
|
|
| Distribution of ?1-(PI) phenotypes in chromosome abnormalities |
|
|
|
|
|
|
|
|
|
| Distances �lectrophor�tiques entre l'Homme, le Chimpanz� (Pan troglodytes) et le Gorille (Gorilla gorilla) bas�es sur la mobilit� des enzymes �rythrocytaires |
|
|
|
|
|
|
|
|
|
| The genetic structure of the Kuwaiti population |
|
|
|
|
|
|
|
|
|
| Chromosome banding and compaction |
|
|
|
|
|
|
|
|
|
| Lack of position effect on the activity of SODCu/Zn gene in subjects with 21/D and 21/G robertsonian translocations |
|
|
|
|
|
|
|
|
|
| Heritable fragile sites on human chromosomes |
|
|
|
|
|
|
|
|
|
| Serial duplication of 10 (q21?q22) in a mentally retarded boy with congenital malformations |
|
|
|
|
|
|
|
|
|
| Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family |
|
|
|
|
|
|
✓ |
|
italian family |
| Editorial |
|
|
|
|
|
|
|
|
|
| The application of DNA recombinant technology to the analysis of the human genome and genetic disease |
|
|
|
|
|
|
|
|
|
| Further delineation of X-linked mental retardation |
|
|
|
|
|
|
|
|
|
| Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype |
|
|
|
|
|
|
|
|
|
| Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature |
|
|
|
|
|
|
|
|
|
| β-Galactosidase-neuraminidase deficiency in adults: Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts |
|
|
|
|
|
|
|
|
|
| Etiological study of omphalocele |
|
|
|
|
|
|
|
|
|
| De novo mutations producing unstable hemoglobins or hemoglobins M |
|
|
|
|
|
|
|
|
|
| Acute leukaemia and the same chromosome abnormality in monozygotic twins |
|
|
|
|
|
|
|
|
|
| A new hereditary variant of the PGM1 erythrocyte enzyme system determined by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| The inherited enzymatic defect in porphyria variegata |
|
|
|
|
|
|
|
|
|
| Gametic equilibrium of four loci on chromosome 1 |
|
|
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|
|
|
|
|
|
| De novo duplication 13q (46,XX,dup(13)(q21→q333)) |
|
|
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|
|
|
|
|
|
| Three cases of familial pericentric inversion 2 |
|
|
|
|
|
|
|
|
|
| Partial trisomy 13 (q14→qter) due to a familial translocation t(13;18)(q14;q23) |
|
|
|
|
|
|
|
|
|
| Sporadic translocation, inversion, and marker chromosome in prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| High resolution analysis and differential condensation in RBA-banded human chromosomes |
|
|
|
|
|
|
|
|
|
| Chromosome abnormalities in newborn children. Physical aspects |
|
|
|
|
|
|
|
|
|
| Baseline and sodium arsenite-induced sister chromatid exchanges in cultured lymphocytes from patients with Blackfoot disease and healthy persons |
|
|
|
|
|
|
|
|
|
| Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D |
|
|
|
|
|
|
|
|
|
| Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: |
|
|
|
|
|
|
|
|
|
| Correlations between relatives for acrocentric association frequency |
|
|
|
|
|
|
|
|
|
| Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts |
|
|
|
|
|
|
|
|
|
| NOR lateral asymmetry and its effect on satellite association in BrdU-labeled human lymphocyte cultures |
|
|
|
|
|
|
|
|
|
| 13S+. Giant satellites or de novo rearrangement? |
|
|
|
|
|
|
|
|
|
| Proceedings of the Kroc Foundation Conference on errors of sex determination |
|
|
|
|
|
|
|
|
|
| Errors of sex determination |
|
|
|
|
|
|
|
|
|
| H-Y and serendipity |
|
|
|
|
|
|
|
|
|
| The H-Y antigen and its role in natural transplantation |
|
|
|
|
|
|
|
|
|
| Serology of H-Y antigen |
|
|
|
|
|
|
|
|
|
| Genetic aspects of H-Y antigen |
|
|
|
|
|
|
|
|
|
| Immunological and functional aspects of H-Y antigen |
|
|
|
|
|
|
|
|
|
| Testis-organizing H-Y antigen as a discrete protein; Its MHC restricted immune recognition and the genomic environment in which H-Y gene operates |
|
|
|
|
|
|
|
|
|
| Early stages of testicular differentiation in the rat |
|
|
|
|
|
|
|
|
|
| Development of sexual dimorphism in the embryonic gonad |
|
|
|
|
|
|
|
|
|
| Mesenchymal-epithelial interactions in sex differentiation |
|
|
|
|
|
|
|
|
|
| Anti-M�llerian hormone: A local or long-distance morphogenetic factor? |
|
|
|
|
|
|
|
|
|
| Sex determination and phenotype in wood lemmings with XXY and related karyotypic anomalies |
|
|
|
|
|
|
|
|
|
| Detection of G-C rich heterochromatin by 5-azacytidine in mammals |
|
|
|
|
|
|
|
|
|
| The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21→qter |
|
|
|
|
|
|
|
|
|
| Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination |
|
|
|
|
|
|
|
|
|
| Arthrogryposis-like signs in trisomy 18 |
|
|
|
|
|
|
|
|
|
| The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype |
|
|
|
|
|
|
|
|
|
| The turner phenotype and the different types of human X isochromsome |
|
|
|
|
|
|
|
|
|
| Multiple cytogenetically abnormal clones in two polycythemia vera patients |
|
|
|
|
|
|
|
|
|
| A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: Comparison with erythrocyte activity |
|
|
|
|
|
|
|
|
|
| Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression |
|
|
|
|
|
|
|
|
|
| HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency |
|
|
|
|
|
|
|
|
|
| Phenotypic interaction studies of HPRT mutant and normal human fibroblasts |
|
|
|
|
|
|
|
|
|
| Further evidence against linkage between christ-siemens-touraine (CST) and XG loci |
|
|
|
|
|
|
|
|
|
| Ring (15) chromosome |
|
|
|
|
|
|
|
|
|
| Partial monosomy 7q syndrome due to distal interstitial deletion |
|
|
|
|
|
|
|
|
|
| Interstitial deletion (2)(p13p15) |
|
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|
|
|
|
|
|
| SOD-A and chromosome 21 |
|
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|