| Further analysis of the replication bypass model for sister chromatid exchange |
|
|
|
|
|
|
|
|
|
| Congenital scalp defects associated with postaxial polydactyly |
|
|
|
|
|
|
|
|
|
| Localisation du gene de l'α-glucosidase acide (α-GLUa) sur le segment q21→qter du chromosome 17 par l'hybridation cellulaire interspecifique |
|
|
|
|
|
|
|
|
|
| Karyotype instability with multiple 7/14 and 7/7 rearrangements |
|
|
|
|
|
|
|
|
|
| Progressive myoclonus epilepsy |
|
|
|
|
|
|
|
|
|
| Paracentric inversion in the short arm of chromosome 1 |
|
|
|
|
|
|
|
|
|
| Human lymphocyte cell cycle: Studies with the use of BrUdR |
|
|
|
|
|
|
|
|
|
| Heteromorphic X Chromosomes in 46,XX males? |
|
|
|
|
|
|
|
|
|
| Congenital glaucoma: Genetic models |
|
|
|
|
|
|
|
|
|
| Evidence for a Null allele at the Esterase D (EC 3.1.1.1) locus |
|
|
|
|
|
|
|
|
|
| Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells |
|
|
|
|
|
|
|
|
|
| Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat |
|
|
|
|
|
|
|
|
|
| ?Complete? trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p |
|
|
|
|
|
|
|
|
|
| Origin of trisomies in human spontaneous abortions |
|
|
|
|
|
|
|
|
|
| Heterozygote manifestation in recessive generalized myotonia |
|
|
|
|
|
|
|
|
|
| Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype |
|
|
|
|
|
|
|
|
|
| Clinical consequence of Xp- |
|
|
|
|
|
|
|
|
|
| ?ere?evskij-Turner's syndrome or Turner's syndrome? |
|
|
|
|
|
|
|
|
|
| Trisomy for the distal third of the long arm of chromosome 19 in brother and sister |
|
|
|
|
|
|
|
|
|
| Trisomy 6q25?6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet |
|
|
|
|
|
|
|
|
|
| Three cases of sex chromosome mosaicism with a nonfluorescent Y |
|
|
|
|
|
|
|
|
|
| Pure red cell hypoplasia associated with long-arm deletion of chromosome 5 |
|
|
|
|
|
|
|
|
|
| G-banding patterns of high-resolution human chromosomes 6?22, X, and Y |
|
|
|
|
|
|
|
|
|
| Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals |
|
|
|
|
|
|
|
|
|
| Associations between atopic diseases and the polymorphic systems ABO, kidd, inv and red cell acid phosphatase |
|
|
|
|
|
|
|
|
|
| Biochemical genetic markers in the Kadazans of Sabah, Malaysia |
|
|
|
|
|
|
|
|
|
| Partial trisomy 17q |
|
|
|
|
|
|
|
|
|
| The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y |
|
|
|
|
|
|
|
|
|
| The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y |
|
|
|
|
|
|
|
|
|
| Short rib-polydactyly syndrome, Majewski type, in two male siblings |
|
|
|
|
|
|
|
|
|
| Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation |
|
|
|
|
|
|
|
|
|
| Simultaneous staining of sister chromatid exchanges and Q-bands in human chromosomes after treatment with methyl methane sulphonate, quinacrine mustard, and quinacrine |
|
|
|
|
|
|
|
|
|
| Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21) |
|
|
|
|
|
|
|
|
|
| Genetic variation in parotid basic proteins (Pb) in the Bozo (Mali, West Africa) |
|
|
|
|
|
|
|
|
|
| The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y |
|
|
|
|
|
|
|
|
|
| Chromosome lesions in amniotic fluid cell cultures |
|
|
|
|
|
|
|
|
|
| Patial trisomy 1 due to 1/17 translocation in Ph'-Positive chronic myelocytic leukemia |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchanges in cultured peripheral lymphocytes from twins |
|
|
|
|
|
|
|
|
|
| Oligodactyly and multiple synostoses of the extremities: Two cases in sibs |
|
|
|
|
|
|
|
|
|
| The occurrence of DChi and new D and B transferrin variants among caste groups of Andhra Pradesh (S. India) |
|
|
|
|
|
|
|
|
|
| Localisation du gène phosphoglycolate phosphatase (PGP) sur le chromosome 16 par l'hybridation cellulaire interspecifique |
|
|
|
|
|
|
|
|
|
| Partial trisomy 14q |
|
|
|
|
|
|
|
|
|
| The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants |
|
|
|
|
|
|
|
|
|
| Calculating genetic risk figures using a programmable pocket calculator |
|
|
|
|
|
|
|
|
|
| Serum zinc levels in heterozygous carriers of the gene for acrodermatitis enteropathica |
|
|
|
|
|
|
|
|
|
| Isoelectric focusing of rare transferrin (Tf) variants and common TfC subtypes |
|
|
|
|
|
|
|
|
|
| Postgraduate course in genetic red blood cell defects |
|
|
|
|
|
|
|
|
|
| Terminal long-arm deletion of chromosome 1 in a male infant |
|
|
|
|
|
|
|
|
|
| Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations |
|
|
|
|
|
|
|
|
|
| Direct duplication 2p14?2p23 |
|
|
|
|
|
|
|
|
|
| Another family with purine nucleoside phosphorylase deficiency |
|
|
|
|
|
|
|
|
|
| A chromosomal abnormality (21q-) in primary thrombocytosis |
|
|
|
|
|
|
|
|
|
| An uncommon phenotypical variant in the Shereshevsky-Turner syndrome |
|
|
|
|
|
|
|
|
|
| On the nature of sickle-cell disease in the Arabian Peninsula |
|
|
|
|
|
|
|
|
|
| Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study |
|
|
|
|
|
|
|
|
|
| A case of D13 ring chromosome |
|
|
|
|
|
|
|
|
|
| Genetic load in an isolated tribal population of south India |
|
|
|
|
|
|
|
|
|
| Hb E gene in imphal, manipur (India) |
|
|
|
|
|
|
|
|
|
| Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers |
|
|
|
|
|
|
|
|
|
| Inhibition of condensation of human Y chromosome by the fluorochrome Hoechst 33258 in a mouse-human cell hybrid |
|
|
|
|
|
|
|
|
|
| Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase |
|
|
|
|
|
|
|
|
|
| Occurrence of the ACP 1 0 allele in Czechoslovakia |
|
|
|
|
|
|
|
|
|
| The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants |
|
|
|
|
|
|
|
|
|
| Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12) |
|
|
|
|
|
|
|
|
|
| Group-specific component (Gc) and transferrin (Tf) subtypes ascertained by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Prominent acrocentric chromosome satellites in child patients with mental retardation or psychiatric disorders; No IQ-satellite size correlation |
|
|
|
|
|
|
|
|
|
| PiT: A new allele in the alpha1-antitrypsin system |
|
|
|
|
|
|
|
|
|
| Frequency of sister chromatid exchanges in cigarette smokers |
|
|
|
|
|
|
|
|
|
| Biochemistry and genetics of gangliosidoses |
|
|
|
|
|
|
|
|
|
| Inactive normal X in a female leukaemic patient with an acquired X/autosome translocation |
|
|
|
|
|
|
|
|
|
| Complete (classic) hydatidiform mole with 46,XY karyotype of paternal origin |
|
|
|
|
|
|
|
|
|
| An r(22)(p11→q13) in a moderately mentally retarded girl |
|
|
|
|
|
|
|
|
|
| 6-PGD polymorphism: A fast ?Elcho? variant found in Finland |
|
|
|
|
|
|
|
|
|
| A new chromosome anomaly in acute lymphoblastic leukemia (ALL) |
|
|
|
|
|
|
|
|
|
| Investigation of associations between ABO blood groups and coagulation, fibrinolysis, total lipids, cholesterol, and triglycerides |
|
|
|
|
|
|
|
|
|
| HLA typing in the non-X-linked muscular dystrophies |
|
|
|
|
|
|
|
|
|
| Detection of carriers and prenatal diagnosis for fucosidosis in Calabria |
|
|
|
|
|
|
|
|
|
| G6PD deficiency with Gd(-)A like variant in a Chinese family from Cambodia |
|
|
|
|
|
|
|
|
|
| Serum albumin variants from populations of Andhra Pradesh, S. India |
|
|
|
|
|
|
|
|
|
| Variability of bacterial gene-directed enzyme production in human genetically deficient cells |
|
|
|
|
|
|
|
|
|
| Position of the human X inactivation center on Xq |
|
|
|
|
|
|
|
|
|
| A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities |
|
|
|
|
|
|
|
|
|
| A third common allele in the transferrin system, Tf C3 , detected by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Interstitial deletion 13q syndromes: A report on two unrelated patients |
|
|
|
|
|
|
|
|
|
| Nucleolar organizers in human oocytes at meiotic prophase I, studied by the silver-NOR method and electron microscopy |
|
|
|
|
|
|
|
|
|
| A homozygote for a serum albumin variant of the fast type |
|
|
|
|
|
|
|
|
|
| Partial trisomy 10q |
|
|
|
|
|
|
|
|
|
| Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant |
|
|
|
|
|
|
|
|
|
| Effects of various cyclophosphamide concentrations in vivo on sister chromatid exchanges (SCE) and chromosome aberrations of Chinese hamster bone marrow cells |
|
|
|
|
|
|
|
|
|
| PTC-Tasting ability in populations living in Kirghizia with special reference to hypersensitivity: Its relation to sex and age |
|
|
|
|
|
|
|
|
|
| Partial monosomy of the long arm of chromosome 16: A distinct clinical entity? |
|
|
|
|
|
|
|
|
|
| Localization of the nucleolar organizer by computer-aided analysis of a variant no. 21 in a human isolate |
|
|
|
|
|
|
|
|
|
| Inverse maternal age effect in monosomy X |
|
|
|
|
|
|
|
|
|
| The use of bone core biopsies for cytogenetic analysis |
|
|
|
|
|
|
|
|
|
| Transplacental mutagenesis: The micronucleus test on fetal mouse blood |
|
|
|
|
|
|
|
|
|
| Down's syndrome in brother and sister without evident trisomy 21 |
|
|
|
|
|
|
|
|
|
| A girl with karyotype 46,XX,del(7)(pter?q32:) |
|
|
|
|
|
|
|
|
|
| Translocation C:D involving chromosomes 11 and 14 |
|
|
|
|
|
|
|
|
|
| A woman carrier of two apparently unrelated reciprocal translocations |
|
|
|
|
|
|
|
|
|
| Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9 |
|
|
|
|
|
|
|
|
|
| Differential function of the phosphoglucomutase isozymes PGM1 and PGM2 |
|
|
|
|
|
|
|
|
|
| The C4 system |
|
|
|
|
|
|
|
|
|
| Gm, Am and Km immunoglobulin allotypes of two populations in Tunisia |
|
|
|
|
|
|
|
|
|
| Different phenotypes of the group-specific component (Gc) in chimpanzees |
|
|
|
|
|
|
|
|
|
| Mutagenic effects of isonicotinic acid hydracide in Fanconi's anemia |
|
|
|
|
|
|
|
|
|
| A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies |
|
|
|
|
|
|
|
|
|
| Cytological analyses of a 14p+variant by means of N-banding and combinations of silver staining and chromosome bandings |
|
|
|
|
|
|
|
|
|
| Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and duarte variants |
|
|
|
|
|
|
|
|
|
| Origin of the extra chromosome in trisomy 21 |
|
|
|
|
|
|
|
|
|
| Down's syndrome with 45 chromosomes |
|
|
|
|
|
|
|
|
|
| Trisomy 9p with an isochromosome of 9p |
|
|
|
|
|
|
|
|
|
| Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation |
|
|
|
|
|
|
|
|
|
| Sex-linked inheritance of cleft palate |
|
|
|
|
|
|
|
|
|
| Cytochemical analysis on a case of familial 17ps |
|
|
|
|
|
|
|
|
|
| Nucleolar organizing regions of human chromosomes |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata |
|
|
|
|
|
|
|
|
|
| Reduced frequency of sister chromatid exchanges in human lymphocytes cultured with autologous serum |
|
|
|
|
|
|
|
|
|
| Human pancreatic amylase polymorphism: Formal genetics and population genetics |
|
|
|
|
|
|
|
|
|
| A case of trisomy 3q21?qter syndrome |
|
|
|
|
|
|
|
|
|
| An azoospermic male with a Y/Autosome translocation |
|
|
|
|
|
|
|
|
|
| Incidence of major chromosome aberrations in 12,319 newborn infants in Tokyo |
|
|
|
|
|
|
|
|
|
| ?GPI Roma?, a new glucose phosphate isomerase deficient variant |
|
|
|
|
|
|
✓ |
|
Roma |
| Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype |
|
|
|
|
|
|
|
|
|
| Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11) |
|
|
|
|
|
|
|
|
|
| Dicentric Robertsonian translocations in man |
|
|
|
|
|
|
|
|
|
| Confirmation of Y/autosome translocations using recombinant DNA |
|
|
|
|
|
|
|
|
|
| Chromosomal breakage in Crohn's disease: Anticlastogenic effect of D-penicillamine and L-cysteine |
|
|
|
|
|
|
|
|
|
| Ring chromosome 6: Case report and review of literature |
|
|
|
|
|
|
|
|
|
| Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies in an acute leukemia patient following cerebellar astrocytoma |
|
|
|
|
|
|
|
|
|
| The genetic hypothesis for susceptibility to lepromatous leprosy |
|
|
|
|
|
|
|
|
|
| Notes |
|
|
|
|
|
|
|
|
|
| Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchanges and aging |
|
|
|
|
|
|
|
|
|
| Partial trisomy 13 as a result of de novo (6p;13q) translocation |
|
|
|
|
|
|
|
|
|
| Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency |
|
|
|
|
|
|
|
|
|
| Structural differences in reciprocal translocations |
|
|
|
|
|
|
|
|
|
| Trisomy 12p syndrome |
|
|
|
|
|
|
|
|
|
| Genetic linkage relations of the sixth component of complement (C6) |
|
|
|
|
|
|
|
|
|
| Satellite association frequency and number of nucleoli depend on cell cycle duration and NOR-activity |
|
|
|
|
|
|
|
|
|
| Chromosomal marker 20q-in cases of osteomyelosclerosis and CML |
|
|
|
|
|
|
|
|
|
| The rate of sister chromatid exchange in normal human bone marrow cells |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Ring chromosome 10 Associated with multiple congenital malformations |
|
|
|
|
|
|
|
|
|
| Kartagener's syndrome and the syndrome of immotile cilia |
|
|
|
|
|
|
|
|
|
| Group-specific component |
|
|
|
|
|
|
|
|
|
| Variable substructure in the secondary constriction of the human chromosome 1 |
|
|
|
|
|
|
|
|
|
| The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants |
|
|
|
|
|
|
|
|
|
| Pure trisomy 17p in 60% of cells |
|
|
|
|
|
|
|
|
|
| Trisomy 10p due to a de novo t(10p;13p) |
|
|
|
|
|
|
|
|
|
| Advances in hereditary red cell enzyme anomalies |
|
|
|
|
|
|
|
|
|
| Biochemistry and Genetics of gangliosidoses |
|
|
|
|
|
|
|
|
|
| Familial translocation t(10;21)(q22;q22) |
|
|
|
|
|
|
|
|
|
| Cycloheximide-resistance in Chinese hamster ovary cells and human fibroblast cells |
|
|
|
|
|
|
|
|
|
| 4th International Congress of Immunology of the International Union of Immunological Societies IUIS Paris, July 21?26, 1980 |
|
|
|
|
|
|
|
|
|
| Trisomy 9p with i(9p) and t(9q18p) |
|
|
|
|
|
|
|
|
|
| Partial trisomy of 13(pter?q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat |
|
|
|
|
|
|
|
|
|
| X-linked mental retardation with macro-orchidism and marker X chromosomes |
|
|
|
|
|
|
|
|
|
| Cytogenetic and clinical studies in five cases of inv dup(15) |
|
|
|
|
|
|
|
|
|
| The influence of culture medium composition on the incidence of chromosomal breakage |
|
|
|
|
|
|
|
|
|
| Determinants of plasma uric acid |
|
|
|
|
|
|
|
|
|
| High genetic polymorphism of hemoglobin disorders in Laos |
|
|
|
|
|
|
|
|
|
| Population frequency distribution of erythrocyte glyoxylase I (EC 4.4.1.5) in the greater Detroit area |
|
|
|
|
|
|
|
|
|
| Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies |
|
|
|
|
|
|
|
|
|
| Another elliptocytosis locus on chromosome 1? |
|
|
|
|
|
|
|
|
|
| A ring chromosome 9 in an infant with malformations |
|
|
|
|
|
|
|
|
|
| Concordant congenital malformations in twins with inherited translocation: t(9p-;13q+) |
|
|
|
|
|
|
|
|
|
| Terminal 7p deletion and 1;7 translocation associated with craniosynostosis |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange in peripheral lymphocytes of subjects vaccinated against measles |
|
|
|
|
|
|
|
|
|
| On the genetics of the human serum paraoxonase (EC 3.1.1.2) |
|
|
|
|
|
|
|
|
|
| A note on the Xp- |
|
|
|
|
|
|
|
|
|
| Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23) |
|
|
|
|
|
|
|
|
|
| Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations |
|
|
|
|
|
|
|
|
|
| The likely region of overlap (LRO) method for physical assignment of loci |
|
|
|
|
|
|
|
|
|
| An automatic system for chromosomal analysis applied to prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Correlated inhibition of ribosomal RNA synthesis and silver staining by actinomycin D |
|
|
|
|
|
|
|
|
|
| Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency |
|
|
|
|
|
|
|
|
|
| Is it G banding sufficient for the localization of breakpoints in translocations? |
|
|
|
|
|
|
|
|
|
| Autosomal dominant acrodysostosis |
|
|
|
|
|
|
|
|
|
| Unstable ring Y chromosome in an aspermic male |
|
|
|
|
|
|
|
|
|
| Monosomy 10 qter |
|
|
|
|
|
|
|
|
|
| Partial trisomy of the short arm of chromosome 3 (3p25→3pter) |
|
|
|
|
|
|
|
|
|
| Two cases of familial paracentric inversion in man associated with sex chromosome anomaly |
|
|
|
|
|
|
|
|
|
| XY gonadal dysgenesis and the H-Y antigen |
|
|
|
|
|
|
|
|
|
| Characterisation of the isoenzymes of phosphoglucomutase (PGM) determined by the first (PGM1) and second (PGM2) locus observed by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Combination of differential sister chromatid staining, G-banding pattern, and X-inactivation pattern |
|
|
|
|
|
|
|
|
|
| Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II) |
|
|
|
|
|
|
|
|
|
| C?3 polymorphism in Italy |
|
|
|
|
|
|
|
|
|
| European Society of Human Genetics the Wessex Symposium Southampton, 19?21 July 1979 |
|
|
|
|
|
|
|
|
|
| Partial trisomy 6p |
|
|
|
|
|
|
|
|
|
| Down's syndrome in Western Australia: Cytogenetics and incidence |
|
|
|
|
|
|
|
|
|
| Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation? |
|
|
|
|
|
|
|
|
|
| X-Linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28 |
|
|
|
|
|
|
|
|
|
| Interstitial delection of the long arm of chromosome 8 |
|
|
|
|
|
|
|
|
|
| Announcement to the contributors of Human Genetics |
|
|
|
|
|
|
|
|
|
| The Papillon-Lef�vre syndrome: Keratosis palmoplantaris with periodontopathy |
|
|
|
|
|
|
|
|
|
| Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature |
|
|
|
|
|
|
|
|
|
| Ring chromosome 15 syndrome |
|
|
|
|
|
|
|
|
|
| Presumptive long arm deletion of chromosome 8: a new syndrome? |
|
|
|
|
|
|
|
|
|
| Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation |
|
|
|
|
|
|
|
|
|
| Partial trisomy 11q as the result of sporadic translocation |
|
|
|
|
|
|
|
|
|
| Trisomy 6p22?6pter due to familial t(6;13)(p22;q34 or 33) translocation |
|
|
|
|
|
|
|
|
|
| Absence of chromosome breakage in patients with retinoblastoma |
|
|
|
|
|
|
|
|
|
| Detection of rare major genes in lipid levels |
|
|
|
|
|
|
|
|
|
| Frequency of sister chromatid exchanges in a balanced reciprocal whole-arm translocation |
|
|
|
|
|
|
|
|
|
| Condensation of all human chromosomes in phase G2 and early mitosis can be drastically inhibited by 33258-Hoechst treatment |
|
|
|
|
|
|
|
|
|
| Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase |
|
|
|
|
|
|
|
|
|
| Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11) |
|
|
|
|
|
|
|
|
|
| Chromosomal evolution in Primates: Tentative phylogeny from Microcebus murinus (Prosimian) to man |
|
|
|
|
|
|
|
|
|
| Partial trisomy 3q |
|
|
|
|
|
|
|
|
|
| A case of 21q-syndrome with normal SOD-1 activity |
|
|
|
|
|
|
|
|
|
| Properties of residual catalase in the erythrocytes of Japanese-type acatalasemia |
|
|
|
|
|
|
|
|
|
| Familial transmission of preauricular fistula in a seven generation indian pedigree |
|
|
|
|
|
|
✓ |
|
indian |
| Population genetic studies of the Aka Pygmies (Central Africa) |
|
|
|
|
|
|
|
|
|
| International Symposium on ?Trisomy 21? Rapallo (Genova), Italy, 8?10 November, 1979 |
|
|
|
|
|
|
|
|
|
| Basic findings and current developments in sphingolipidoses |
|
|
|
|
|
|
|
|
|
| The 8p- syndrome |
|
|
|
|
|
|
|
|
|
| Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome |
|
|
|
|
|
|
|
|
|
| Digital ridge counts and genetic fields |
|
|
|
|
|
|
|
|
|
| Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick disease |
|
|
|
|
|
|
|
|
|
| Satellite DNA and heterochromatin variants: The case for unequal mitotic crossing over |
|
|
|
|
|
|
|
|
|
| PEP A9, a new, unstable variant in the peptidase a system |
|
|
|
|
|
|
|
|
|
| Neuraminidase treatment reveals sialic acid differences in certain genetic variants of the Gc system (vitamin-D-binding protein) |
|
|
|
|
|
|
|
|
|
| Detection of mycoplasma contamination in tissue cultures by fluorescence microscopy |
|
|
|
|
|
|
|
|
|
| The length of the Y chromosome in Nubian males and its location in metaphase spreads |
|
|
|
|
|
|
✓ |
|
Nubian males |
| Chromosome deletion [46,XX,del(20)(q11)] in agnogenic myeloid metaplasia |
|
|
|
|
|
|
|
|
|
| Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother |
|
|
|
|
|
|
|
|
|
| Partial duplication of the short arm of chromosome 10 |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparentely balanced translocations |
|
|
|
|
|
|
|
|
|
| Reply to: The use of racial admixture as evidence in intelligence research |
|
|
|
|
|
|
|
|
|
| A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea |
|
|
|
|
|
|
|
|
|
| Chromosomes in acute leukemia |
|
|
|
|
|
|
|
|
|
| Heritable fragile sites on human chromosomes |
|
|
|
|
|
|
|
|
|
| H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| X-Linked dominant chondrodysplasia punctata |
|
|
|
|
|
|
|
|
|
| Qualitative and quantitative study of the growth and cell surface properties of Huntington's disease fibroblasts and age-matched controls |
|
|
|
|
|
|
|
|
|
| Characterization of alpha-1-antitrypsin by isoelectric focusing on an ultrathin polyacrylamide gel layer |
|
|
|
|
|
|
|
|
|
| Improved screening test for abnormal hemoglobins from dried blood samples |
|
|
|
|
|
|
|
|
|
| Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q |
|
|
|
|
|
|
|
|
|
| Omphalocele and partial trisomy 1q syndrome |
|
|
|
|
|
|
|
|
|
| Segregation of rat chromosomes in somatic cell hybrids between rat cells and HT 1080 human fibrosarcoma cells |
|
|
|
|
|
|
|
|
|
| Heritable fragile sites on human chromosomes |
|
|
|
|
|
|
|
|
|
| Genetic studies of complement C4 in man |
|
|
|
|
|
|
|
|
|
| Hurler-Scheie phenotype: A report of two pairs of inbred sibs |
|
|
|
|
|
|
|
|
|
| Characterization of some erythrocyte G6PD variants by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4 |
|
|
|
|
|
|
|
|
|
| H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism |
|
|
|
|
|
|
|
|
|
| Human alcohol dehydrogenase ADH2 and ADH3 polymorphisms in ethnic Chinese and Indians of West Malaysia |
|
|
|
|
|
|
|
|
|
| Gm allotypes and racial admixture in two Brazilian populations |
|
|
|
|
|
|
✓ |
|
racial admixture |
| A new translocation in Burkitt's tumor cells |
|
|
|
|
|
|
|
|
|
| Failure to demonstrate abnormal lymphocyte capping in humans, mice and hamsters with muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis |
|
|
|
|
|
|
|
|
|
| Pericentric inversion in chromosome No.2 as a de novo mutation |
|
|
|
|
|
|
|
|
|
| Familial transmission of a translocation Y/14 |
|
|
|
|
|
|
|
|
|
| Exclusion of the localization of the Gm, Pi, and C3 genes on 6q25?6qter through blood group analysis of the patients of Schmid, D'Apuzzo and rossi (Hum. Genet. 46, 279?284, 1979) |
|
|
|
|
|
|
|
|
|
| Improved technique for human leukocyte cultures |
|
|
|
|
|
|
|
|
|
| Demonstration of Y/autosomal translocations using distamycin A |
|
|
|
|
|
|
|
|
|
| Chromosome aberrations in psoriatic patients treated with arsenic |
|
|
|
|
|
|
|
|
|
| Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents |
|
|
|
|
|
|
|
|
|
| Familial XX true hermaphroditism and the H-Y antigen |
|
|
|
|
|
|
|
|
|
| Phosphofructokinase (PFK) isozymes in man |
|
|
|
|
|
|
|
|
|
| Chronic myelogenous leukemia with an unusual karyotype |
|
|
|
|
|
|
|
|
|
| Fragile site long arm chromosome 16 |
|
|
|
|
|
|
|
|
|
| Regional assignment of red cell acid phosphatase locus to band 2p25 |
|
|
|
|
|
|
|
|
|
| Relationship between ?-L-fucosidase deficiency in plasma and ?-L-fucosidase activity in leukocytes |
|
|
|
|
|
|
|
|
|
| Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Nucleolus organiser regions on mitotic and meiotic chromosomes from infertile males investigated using a specific silver stain |
|
|
|
|
|
|
|
|
|
| The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(qh?,RHG,GAG,CBG) |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange and cell cycle in fibroblasts of Bloom's syndrome |
|
|
|
|
|
|
|
|
|
| Serum protein polymorphisms in a village community from the Gambia, West Africa (Hp, Tf, and Gc) |
|
|
|
|
|
|
|
|
|
| Single Cd band in dicentric translocations with one suppressed centromere |
|
|
|
|
|
|
|
|
|
| Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea |
|
|
|
|
|
|
|
|
|
| 18q- Syndrome resulting from a tdic(14p;18q) |
|
|
|
|
|
|
|
|
|
| Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family |
|
|
|
|
|
|
|
|
|
| Genetics and biochemistry of the phenylketonuria-present state |
|
|
|
|
|
|
|
|
|
| C-band polymorphisms of chromosomes 1, 9, and 16 in four subgroups of mentally retarded patients and a normal control population |
|
|
|
|
|
|
|
|
|
| Partial translocation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus |
|
|
|
|
|
|
|
|
|
| Populational polymorphisms in silver staining of nucleolus organizer regions (NORs) in human acrocentric chromosomes |
|
|
|
|
|
|
|
|
|
| Polymorphism of alanine aminotransferase (E.C.2.7.6.1): Common and rare alleles |
|
|
|
|
|
|
|
|
|
| Genetic polymorphism of α-L-fucosidase in brittany (France) |
|
|
|
|
|
|
|
|
|
| Haplotype analysis of the linkage group HLA-A: HLA-B: Bf in Japanese |
|
|
|
|
|
|
|
|
|
| Racial differences in alcohol sensitivity: A new hypothesis |
|
|
|
|
|
|
|
|
|
| A new case of partial trisomy 15q- |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of a 13p+ karyotype |
|
|
|
|
|
|
|
|
|
| Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations |
|
|
|
|
|
|
|
|
|
| Genetics of retinoblastoma |
|
|
|
|
|
|
|
|
|
| X pentasomy: A case and review |
|
|
|
|
|
|
|
|
|
| Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11) |
|
|
|
|
|
|
|
|
|
| 11q Aneuploidy: Partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation |
|
|
|
|
|
|
|
|
|
| Quantitative studies on the arrangment of human metaphase chromosomes |
|
|
|
|
|
|
|
|
|
| Chromosomal radiosensitivity of ataxia telangiectasia cells at different cell cycle stages |
|
|
|
|
|
|
|
|
|
| High incidence of the silent allele at cholinesterase locus I in Vysyas of Andhra Pradesh (S. India) |
|
|
|
|
|
|
|
|
|
| Demonstration of two different regions of lateral asymmetry in human Y chromosomes |
|
|
|
|
|
|
|
|
|
| Cytogenetic effects of inactivated influenza virus on male germ cells of mice |
|
|
|
|
|
|
|
|
|
| Assignment of structural β-galactosidase loci to human chromosomes 3 and 22 |
|
|
|
|
|
|
|
|
|
| Incidence and characteristics of glucose-6-phosphate dehydrogenase variants in Japan |
|
|
|
|
|
|
|
|
|
| Deficiency of arginine and lysine causes increase in the frequency of sister chromatid exchanges |
|
|
|
|
|
|
|
|
|
| Mitochondrial malic enzyme (E.C. 1.1.1.40) in human leukocytes: Formal genetics and population genetics |
|
|
|
|
|
|
|
|
|
| Common polymorphism of peptidase A: Formal genetics and population data |
|
|
|
|
|
|
|
|
|
| Human mitochondrial glutamic-oxaloacetic-transaminase, GOTM: Formal genetics |
|
|
|
|
|
|
|
|
|
| A low frequency mosaicism for monosomy 21 in a live born female |
|
|
|
|
|
|
|
|
|
| Transposition of 9q34 and 22 (q11?qter) regions has a specific role in chronic myelocytic leukemia |
|
|
|
|
|
|
|
|
|
| Lateral asymmetry of constitutive heterochromatin in human chromosomes |
|
|
|
|
|
|
|
|
|
| Partial trisomy 13q21?qter de novo due to a recombinant chromosome rec(13)dup q |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange in cell lines from malignant lymphomas (lymphoma lines) |
|
|
|
|
|
|
|
|
|
| A comparison of constitutive heterochromatin staining methods in two cases of familial heterochromatin deficiencies |
|
|
|
|
|
|
|
|
|
| A highly sensitive peroxidase-antiperoxidase method for detection of H-Y antigen on cultivated human fibroblasts |
|
|
|
|
|
|
|
|
|
| Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy |
|
|
|
|
|
|
|
|
|
| Heterozygous expression in 3-M slender-boned nanism |
|
|
|
|
|
|
|
|
|
| Computer-aided analysis of chromosomal aberrations occurring in an abnormal human karyotype |
|
|
|
|
|
|
|
|
|
| Chromosome distribution studies after inorganic lead exposure |
|
|
|
|
|
|
|
|
|
| Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q |
|
|
|
|
|
|
|
|
|
| Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p |
|
|
|
|
|
|
|
|
|
| On the incidence of blood group O and Gm(−1) phenotypes in patients with malignant melanoma |
|
|
|
|
|
|
|
|
|
| Distribution of glyoxalase I (GLO) variants in Western Europe and the Indian subcontinent |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchange in lymphocytes from patients with Acute lymphoblastic leukemia |
|
|
|
|
|
|
|
|
|
| A cytogenetic survey of an institution for the mentally retarded |
|
|
|
|
|
|
|
|
|
| De novo 13q paracentric inversion in a boy with cleft palate and mental retardation |
|
|
|
|
|
|
|
|
|
| Tandem duplication (5q13→22) in a mentally deficient girl |
|
|
|
|
|
|
|
|
|
| Complete deficiency of constitutive heterochromatin on a human chromosome 9 |
|
|
|
|
|
|
|
|
|
| Partial trisomy 4q in two unrelated cases |
|
|
|
|
|
|
|
|
|
| Partial mispairing and crossing-over between β0 and δ genes as the origin of the δ β0 thalassemia gene |
|
|
|
|
|
|
|
|
|
| Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi's anemia |
|
|
|
|
|
|
|
|
|
| Distribution of HLA A, B and C antigens in an Australian population |
|
|
|
|
|
|
|
|
|
| Urinary pepsinogen isozymes: A highly polymorphic locus in man |
|
|
|
|
|
|
|
|
|
| Linkage studies on the human Pi, Gm, GLO, and HLA genes |
|
|
|
|
|
|
|
|
|
| Quantitative studies on the arrangement of human metaphase chromosomes |
|
|
|
|
|
|
|
|
|
| Translocation between chromosome 7 and chromosome 22, t(7;22)(p22;q12), in a patient with chronic myelocytic leukemia |
|
|
|
|
|
|
|
|
|
| Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome |
|
|
|
|
|
|
|
|
|
| Expression of esterase D and other gene markers in trisomy 13 |
|
|
|
|
|
|
|
|
|
| Recurrence of Down syndrome associated with microchromosome |
|
|
|
|
|
|
|
|
|
| A pachytene chromomere map of chromosome 10 |
|
|
|
|
|
|
|
|
|
| Hemoglobin G San José
$${\text{[}}\beta _{\text{2}} {\text{(A4)Glu}} \to {\text{Gly}}\alpha _{\text{2}} {\text{],}}$$
β thalassemia, and α thalassemia in a sicilian family |
|
|
|
|
|
|
✓ |
|
Sicilian family |
| ‘De novo’ trisomy 16q11→pter |
|
|
|
|
|
|
|
|
|
| Confirmation of the assignment of the gene for arylsulfatase A to chromosome 22 using somatic cell hybrids |
|
|
|
|
|
|
|
|
|
| Cytogenetic effects of replicating and nonreplicating strains of influenza virus on male germ cells of mice |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of chromosome 13 and associated congenital anomalies |
|
|
|
|
|
|
|
|
|
| Human erythrocyte carbonic anhydrase polymorphism in Kenya |
|
|
|
|
|
|
|
|
|
| Partial duplication of 17p |
|
|
|
|
|
|
|
|
|
| Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22) |
|
|
|
|
|
|
|
|
|
| Partial trisomy 16q resulting from maternal translocation |
|
|
|
|
|
|
|
|
|
| Heteromorphic X chromosomes in 46,XX males: Evidence for the involvement of X-Y interchange |
|
|
|
|
|
|
|
|
|
| Sister chromatid exchanges in human leukocyte chromosomes: Spontaneous and induced frequencies in early- and late-proliferating cells in vitro |
|
|
|
|
|
|
|
|
|
| An estimate of genetic risk from 8-methoxypsoralen photochemotherapy |
|
|
|
|
|
|
|
|
|
| Concerning the linkage relationships of the Gc and MNSs loci |
|
|
|
|
|
|
|
|
|