| Chromosomal studies of leukemic and preleukemic Fanconi's anemia patients |
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| The delivery of genetic counseling services in Europe |
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| The 11q;22q translocation: A European collaborative analysis of 43 cases |
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| A survey on the formation and localization of secondary isozymes in mammalia |
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| Chromosome studies on lymphocytes of patients under cytostatic therapy |
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| Prevention of chromosomal breakage in Fanconi's anemia by cocultivation with normal cells |
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| Abnormal cerebral cortical convolutions in an XYY fetus |
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| Phenotypic conversion of human erythrocytes by H-Y antigen |
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| Effect of malathion on nucleic acid synthesis in phytohemagglutinin-stimulated human lymphocytes |
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| The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes |
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| Salivary peroxidase, Pm, and Ph protein polymorphisms in Malaysians |
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| Incidence of mucopolysaccharidoses in Israel: Is hunter disease a ?Jewish disease?? |
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✓ |
|
Jewish |
| Perinatal mortality and XY/XX mosaicism |
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| The ?happy puppet? syndrome in two siblings |
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| Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation |
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| H-Y antigen in X,i(Xq) gonadal dysgenesis: Evidence of X-linked genes in testicular differentiation |
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| Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea |
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| Substrate affinity in PGM1, PGM2, and PGM3 isozymes |
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| Serum Gm system in liver cirrhosis and hepatoma |
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| Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia |
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| Trisomy 8 |
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| Chromosome studies on lymphocytes of patients under cytostatic therapy |
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| A case of r(21) with stigmata of atypical Down syndrome |
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| Gc X and Gc Y revealed by immunofixation electrophoresis |
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| A new approach in the evaluation of chromosome variants in man |
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| Cytogenetic evidence for the absence of an inactivated X chromosome in a human female (XX) breast carcinoma cell line |
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| Anatomic and chromosomal anomalies in 639 spontaneous abortuses |
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| Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses |
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| A new procedure for the determination of transferrinC (TfC) subtypes by isoelectric focusing |
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| Pi M4: An additional Pi M subtype |
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| Venous thromboembolism and AB0 blood groups in a Brazilian population |
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| G6PD ciudad de la habana: A new slow variant with deficiency found in a cuban family |
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| 13/14 translocation in a man with reproductive failure |
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| Clinical consequences of Xp- |
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| Sequence organization of animal nuclear DNA |
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| The fragile site on chromosome 16 (q21q22) |
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| Y-to-X chromosome translocation observed in two generations |
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| Heart-hand syndrome |
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| On the inadequacy of quinquennial data for analyzing the paternal age effect on Down's dyndrome rates |
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| Dihydropteridine reductase variation in man and the characid fish ?Cheirodon axelrodi?: Evidence for a dimeric enzyme structure |
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| Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism |
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| G6PD deficiency in senile cataracts |
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| Gd(-) Rennes a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France |
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| Announcements |
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| Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment |
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| The effect of cyclophosphamide and isoniazid (INH) alone and in combination on the centromere separation sequence in chinese hamster bone marrow cells |
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| H-Y antigen expression in a case of XX true hermaphroditism |
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| An extra idic(15p)(q11) chromosome in Prader-Willi syndrome |
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| The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31) |
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| Announcements |
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| Familial congenital diaphragmatic defect: Review and conclusions |
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| Full trisomy 7 and Potter syndrome |
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| Interstitial deletion of the long arm of chromosome 7 |
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| A new R-banding technique in clinical cytogenetics |
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| Pattern of chromosomal replication in synchronized lymphocytes |
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| Human cells in suspension 2 |
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| Duchenne muscular dystrophy |
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| Telomere and centromere association tendencies in the human male metaphase complement |
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| Is there a relationship between sex of cystic fibrosis carriers and sex ratio of their offspring? |
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| Do numerical polymorphisms exist at the human 5 S locus? |
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| Morquio's disease type A: Absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase |
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| Polymorphisme �lectrophor�tique des prot�ines et enzymes s�riques et �rythrocytaires chez le chimpanz� (Pan troglodytes) |
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| Association frequency and silver staining of nucleolus organizing regions in hyperthyroid patients |
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| Random position of human heterochromatin-bearing chromosomes in first and third mitoses of lymphocyte cultures |
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| Balanced transmission of centromeric fission products in man |
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| Where is the gene for GALT? |
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| Arrangement of chromosomes in the interphase nucleus of plants |
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| Recent adoption studies of IQ |
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| H-Y antigen in transsexuality, and how to explain testis differentiation in H-Y antigen-negative males and ovary differentiation in H-Y antigen-positive females |
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| Aberrant testicular differentiation in 46,XY gonadal dysgenesis: Morphology, endocrinology, serology |
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| A case of pure red cell aplasia with a high incidence of spontaneous chromosome breakage: A possible X-ray sensitive syndrome |
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| Chromosome-breaking agent of low molecular weight in human systemic Lypus Erythematosus |
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| Cytogenetic study of a large black kindred: Inversions, heteromorphisms, and segregation analysis |
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✓ |
|
black kindred |
| A new and simple technique for chromosomal preparations from peripheral blood lymphocytes, amniotic cell cultures, skin fibroblasts, bone marrow and single cell clones when the yields from harvests ar |
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| Individual variation of centric heterochromatin in man |
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| Inherited erythrocyte phosphofructokinase deficiency: Molecular mechanism |
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| Gm and Inv [Km] allotypes among Libyan and Ashkenazi Jews, and Armenians living in Israel |
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✓ |
|
Libyan and Ashkenazi Jews, and Armenians living in Israel |
| Studies on blood groups and other genetic markers in forest Nentzi: Variation among the subpopulations |
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| Sister chromatid exchanges in protein-energy malnutrition |
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| On procaryotic gene expression in eucaryotic systems |
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| A new case of Y to X translocation in a female |
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| Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation |
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| Possible origin of a small bisatellited additional chromosome |
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| Body measurements of patients with streak gonads and their bearing upon the karyotype |
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| Pi Ecincinnati: A new alpha1-antitrypsin allele in three negro families |
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✓ |
|
negro |
| A linkage study of hereditary ataxias and related disorders |
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| Studies on the influence of liquid holding in Con-A stimulated human peripheral blood lymphocytes on mitosis and X-ray induced chromosome aberrations |
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| Ultrastructural changes of the intercellular relationship in impaired human spermatogenesis |
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|
| Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants |
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|
| Paracentric inversion in man: Personal experience and review of the literature |
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|
| Genetic linkage between Bf S0.7 (Bf S1) and HLA-Bw50 |
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|
|
| Data on linkage relations between GLO and 21-hydroxylase |
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|
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| Announcements |
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|
|
| A synopsis of the human Y chromosome |
|
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|
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| Recurrence risks for down syndrome |
|
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|
|
| Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts |
|
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|
|
| Activity of rRNA genes in cells of a patient with Down syndrome mosaic |
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|
|
| Human cells in suspension 3 |
|
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|
|
| Regional assignment of a 2.1-kb repetitive sequence to the distal part of the human Y heterochromatin |
|
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|
|
| 5-Bromodeoxycytidine in the study of sister chromatid exchanges in human lymphocytes |
|
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|
|
| A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members |
|
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|
|
| Diaphragmatic defects in children of consanguineous parents |
|
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|
|
| Silver-Stained accessory structures on human sex chromosomes |
|
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|
|
| X-linked steroid sulfatase: Evidence for different gene-dosage in males and females |
|
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|
|
| Regional assignment of the gene locus for steroid sulfatase |
|
|
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|
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|
|
| Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes, with a note on G-6-PD and the malaria hypothesis |
|
|
|
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|
|
✓ |
|
South African Negroes |
| Two reciprocal translocations t(9p+;13q?) and t(13q?;21q+) |
|
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|
|
|
|
| H-Y antigen in 46,XY gonadal dysgenesis |
|
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|
|
| Rare phenotypes of placental alkaline phosphatase an analysis of relationships with some neonatal and maternal variables |
|
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|
|
| Detection of laser-UV microirradiation-induced DNA photolesions by immunofluorescent staining |
|
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|
|
| Variants of erythrocyte glucose-6-phosphate dehydrogenase (G6PD) in Bulgarian populations |
|
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|
|
| Alpha-1-protease inhibitor phenotypes and serum concentrations in Thailand |
|
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|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Reciprocal translocation with special reference to reproductive failure |
|
|
|
|
|
|
|
|
|
| A new approach in the evaluation of chromosome variants in man |
|
|
|
|
|
|
|
|
|
| Effects of temperature on sister chromatid exchanges |
|
|
|
|
|
|
|
|
|
| Linkage relationships of biochemical markers to Q- and C-band variants in a large black kindred |
|
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|
|
| Cell selection in vivo |
|
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|
|
| Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16 |
|
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|
|
| Chimerism 46,XX/46,XY in a phenotypic female |
|
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|
|
| Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial clinical manifestations in female carriers |
|
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|
|
| Turner syndrome patients are H-Y positive |
|
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|
|
|
|
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|
|
| Cytological evidence for the location of male-determining and H-Y genes on the short arm of Y chromosome |
|
|
|
|
|
|
|
|
|
| EEG differences in neurotic as compared with normal twin pairs |
|
|
|
|
|
|
|
|
|
| Effects of X-irradiation in G1 and G2 on Bloom's syndrome and normal chromosomes |
|
|
|
|
|
|
|
|
|
| Intercalar satellites of human acrocentric chromosomes as a cytological manifestation of polymorphism in GC-rich material? |
|
|
|
|
|
|
|
|
|
| Comparison of acrocentric associations in male and female cells. Relationship to the active nucleolar organizers |
|
|
|
|
|
|
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|
|
| Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding robertsonian translocations |
|
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|
|
|
|
|
|
|
| Silver-stained synaptonemal complexes of human pachytene bivalents studied by light microscopy |
|
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|
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|
|
| A family with whistling-face-syndrome |
|
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|
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|
|
| Partial trisomie 5q: Three different phenotypes depending on different duplication segments |
|
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|
|
| Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing |
|
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|
|
|
|
|
| Bipolar manic-depressive psychoses: Results of a genetic investigation |
|
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|
|
| Chromosome heteromorphisms in the Japanese |
|
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|
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|
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|
|
| Old Chinese observation correlated to AB0 groups |
|
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|
|
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|
|
| A gene controlling H-Y antigen on the X chromosome |
|
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|
|
|
|
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|
|
| Induction of sister chromatid exchanges by hydroxylamine, hydrazine and isoniazid and their inhibition by cysteine |
|
|
|
|
|
|
|
|
|
| Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16 |
|
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|
|
|
|
|
|
| Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223 |
|
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|
|
|
|
|
|
|
| Intracellular concentrations of phenylalanine, tyrosine and ?-aminobutyric acid in 13 homozybotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals |
|
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|
|
|
|
|
|
|
| Comparison of N banding and silver staining of human NORs |
|
|
|
|
|
|
|
|
|
| Double one-dimensional electrophoresis of human serum transferrin: A new high-resolution screening method for genetically determined variation |
|
|
|
|
|
|
|
|
|
| Down's syndrome in Wallonia (South Belgium), 1971?1978: Cytogenetics and incidence |
|
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|
|
|
|
|
| Cd bands and centromeric function in dicentric chromosomes |
|
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|
|
|
|
|
|
|
| The pipette method: A new rapid technique for chromosome analysis in prenatal diagnosis |
|
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|
|
|
|
|
|
| Cerebro-costo-mandibular syndrome |
|
|
|
|
|
|
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|
|
| X chromosome constitution and the human female phenotype |
|
|
|
|
|
|
|
|
|
| A ring 14 chromosome with deleted short arm |
|
|
|
|
|
|
|
|
|
| The quantitative analysis of polymorphism on human chromosomes 1, 9, 16 and Y |
|
|
|
|
|
|
|
|
|
| Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum |
|
|
|
|
|
|
|
|
|
| The effect of caffeine posttreatment of X-ray-induced chromosomal aberrations in human blood lymphocytes in vitro |
|
|
|
|
|
|
|
|
|
| PK3: A new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance |
|
|
|
|
|
|
|
|
|
| Cold synchronization for the study of peripheral blood and bone marrow chromosomes in leukemias and other hematologic disease states |
|
|
|
|
|
|
|
|
|
| Sibling correlations and genetic estimates for selected blood variables in French Canadian children |
|
|
|
|
|
|
✓ |
|
French Canadian |
| Erratum |
|
|
|
|
|
|
|
|
|
| Heterogeneity in ?0 thalassemia from Algeria: Genetic, clinical and molecular studies |
|
|
|
|
|
|
|
|
|
| Linkage of genes for chronic granulomatous disease and Xg |
|
|
|
|
|
|
|
|
|
| Galactose-1-phosphate-uridyltransferase (E.C.2.7.7.11): A simple routine method for detecting individuals heterozygous for the silent allele Gt 0 |
|
|
|
|
|
|
|
|
|
| A duplication-deficiency X chromosome in a girl with severe mental retardation |
|
|
|
|
|
|
|
|
|
| Densitometric and visual measurements of human chromosome 21 |
|
|
|
|
|
|
|
|
|
| Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: Support for the hypothesis of allelic mutants |
|
|
|
|
|
|
|
|
|
| Incidence of chromosomal rearrangements in couples with reproductive loss |
|
|
|
|
|
|
|
|
|
| Trisomy 16q21�qter |
|
|
|
|
|
|
|
|
|
| Trisomy 20pter�q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother |
|
|
|
|
|
|
|
|
|
| Tertiary trisomy (22q11q),47,+der(22),t(11;22) |
|
|
|
|
|
|
|
|
|
| Balanced translocation (10;13) in a father, ascertained through the study of meiosis in semen, and partial trisomy 10q in his son |
|
|
|
|
|
|
|
|
|
| Structural abnormalities of the Y chromosome and abnormal external genitals |
|
|
|
|
|
|
|
|
|
| Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling |
|
|
|
|
|
|
|
|
|
| Temporary increase in chromosome breakage in an infant prenatally exposed to lead |
|
|
|
|
|
|
|
|
|
| Mechanisms of Giemsa banding |
|
|
|
|
|
|
|
|
|
| Atypical segregation of esterase D: Evidence of a rare “silent” allele EsD 0 |
|
|
|
|
|
|
|
|
|
| Glucose-6-phosphate dehydrogenase in Thailand |
|
|
|
|
|
|
|
|
|
| Is there a PGM1 4 allele specific to Amerindian populations? |
|
|
|
|
|
|
✓ |
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Amerindian |
| ?1-antitrypsin (Pi) phenotypes in a village population from the Gambia, West Africa |
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| Altered sensitivity to colchicine and PHA in human cultured cells |
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| Nomarski-optical studies of human chromosomes R-banded with barium hydroxide |
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| Determinants of blood pressure in Japanese-American families |
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✓ |
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Japanese-American |
| Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation |
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| The presence of androgen-binding receptors in genital and nongenital skin fibroblasts |
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| Reply to the letter of Prieto et al. Concerning our paper on a case of 13q;18q translocation |
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| Acrodysostosis and blue eyes |
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| Cases observed |
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| Announcements |
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| XY females with enzyme deficiencies of steroid metabolism |
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| Trisomy 13 in a 4-year-old child |
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| Partial 4q duplication due to Inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of Factor X |
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| Partial monosomy of long arm of chromosome 4 due to interstitial deletion |
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| Syndrome of lymphoedema and distichiasis |
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| Lymphocyte proliferation in Down's syndrome measured by sister chromatid differential staining |
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| A deleted extra chromosome 22 identified by DNA replication banding |
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| Dominant inheritance of cleft of the soft palate |
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| The chromosome changes in non-Burkitt lymphomas |
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| Possible mutagenicity of the psychoactive phenothiazine derivative perazine in vivo and in vitro |
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| Relationship between measured chromosome distribution parameters and Ag-staining of the nucleolus organizer regions |
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| The identification of human chromosomes by quinacrine fluorescence after hybridisation in situ |
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| Deficiency of neuraminidase in the sialidoses and the mucolipidoses |
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| Patterns of cyclic AMP phosphodiesterases during rat testis development |
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| Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: Clinical, genetic and molecular studies in six new Spanish patients |
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| Epidemiology of alpha1-antitrypsin deficiency in the Netherlands |
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| Familial determinants of blood pressure in Northeastern Brazil |
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| Formal genetics of phosphoglycolate phosphatase (PGP): Investigation on 272 mother-child pairs |
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| Human phosphoglycolate phosphatase (PGP) E.C.3.1.3.18: Linkage analysis |
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| Sister chromatid exchange in cigarette smokers |
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| On the new policy for reports on chromosomal anomalies |
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| Arrangement of chromatin in the nucleus |
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| Reciprocal translocation t(5;6)(p13;q27) through three generations: Case report of cri du chat syndrome |
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| Assignment of a structural gene for a fourth human diaphorase (DIA4) to chromosome 16 in man-mouse somatic cell hybrids |
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| Banded karyotypes from bone marrow: A clinical useful approach |
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| Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk |
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| Satellite associations and silver staining in a case of multiple G and D variants |
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| The genetic defect in the various types of human β-galactosidase deficiency |
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| Partial short arm deletion of the X chromosome 46,X,del(X)(qter?p21:) |
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| The tetraphocomelia-cleft palate syndrome in identical twins |
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| A comment on the paper: Recurrence of down syndrome associated with microchromosome by C. Ramos, L. Rivera, J. Benitez, E. Tejedor, and A. Sanchez-Cascos |
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| A 45,X male with translocation of euchromatic Y chromosome material |
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| Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p |
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| Etude preliminaire de stades de la méiose humaine dans les spermatocytes et les ovocytes |
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| Meiotic studies in human semen |
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| Parental origin of de novo chromosome rearrangements |
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| Effect of malathion on the genetic material of human lymphocytes stimulated by phytohemagglutinin (PHA) |
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| HLA-A, B, C, DR alleles in congenital adrenal hyperplasia |
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| Report of nomenclature meeting for α1-antitrypsin |
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| Announcements |
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| Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids |
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| Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion |
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| Methods for analysis of the mutagenicity of indirect mutagens/carcinogens in eukaryotic cells |
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| Antagonistic effect of cocultivation on mitomycin C-induced aberration rate in cells of a patient with Fanconi's anemia and in Chinese hamster ovary cells |
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| Has diagnostic ultrasound mutagenic effects? |
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| Subtypes of the phosphoglucomutase-1 (PGM
1) locus detectable in Polish populations by isoelectric focusing on cellogel |
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✓ |
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Polish populations |
| Different sensitivity of diploid and trisomic cells from patients with Down syndrome mosaic after treatment with the trifunctional alkylating agent trenimon |
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| Pi
Zpratt
: A new alpha1-antitrypsin allele in an American negro family |
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✓ |
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negro |
| On estimating penetrance of the retinoblastoma gene |
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| Retinoblastoma: Host resistance and 13q- chromosomal deletion |
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| Nonrandom distribution of exchange points in patients with reciprocal translocations |
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| Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia |
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| Q- and C-band polymorphisms in patients with ovarian or breast carcinoma |
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| On the structure and polymorphism of the human chromosome no. 15 |
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| Prefixation chromosome banding with heparin |
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| Chromosome variants in children referred for cytogenetic examination from two paediatric departments during a 12-year-period |
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