Human Genetics - 1978

260 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
Twins and Q-banded chromosome polymorphisms
Anatomic and chromosomal anomalies in 944 induced abortuses
An extra band in human 9qh+ chromosomes
Isoelectric focusing of human red cell phosphoglucomutase
Red cell glucose 6 phosphate dehydrogenase genotypes of the population of two West African villages
Is there a pattern of gene differentiation in the Indian populations
Preferential X inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals?
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect
Trisomy 22 in a 20-year-old female
Regulation of rRNA gene expression in a human familial 14p+ marker chromosome
Chromosomal investigations in children with pyknolepsy on dipropylacetate monotherapy
Homozygosity of adenylate kinase allele 3: Two cases
Ring 10 chromosome: 46,XX,r10(p15q26)
A rare PGM1 variant in Chilean Aymara Indians
Hageman (factor XII) locus on 7q?
Recombinant chromosome as a result of pericentric inversion of X chromosome
PKU locus: Genetic linkage with human amylase (Amy) loci and assignment to linkage group I
Incidence of 47,XYY karyotype in a consecutive series of newborn males in Tokyo
Partial trisomy 18q in a newborn with typical 18 trisomy phenotype
Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro
A comment on the paper: Reciprocal translocation and the Philadelphia chromosome By Jessie L. Watt and Brenda M. Page, Hum. Genet. 42, 163?170 (1978)
A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-Giemsa bands on human chromosomes
Transferrin: Evidence for two common subtypes of the TfC allele
Distribution of C3 phenotypes in North India: A pilot study
47,X,i(Xq),Y karyotype in Klinefelter's syndrome
Isochromosome 17q in two cases of acute blast transformation in myeloproliferative disorders
Analysis of DNA replication patterns of human fibroblast chromosomes the replication map
Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome
On the peripheral location of the Y chromosome
Sister chromatid exchange in lymphocytes from patients with malignant lymphoma
Rapid identification of chromosomes carrying silver-stained nucleolus-organizing regions
Prenatal diagnosis of GM1-gangliosidosis: Biochemical manifestations in fetal tissues
Evidence for subtypic determinants in the HLA-DW3 cluster
Investigations on the PGM 1 a polymorphism (phosphoglucomutase-EC 2.7.5.1) by isoelectric focusing
15/17 Translocation in acute promyelocytic leukaemia
The relation of sex, smoking status, birth rank, and parental age to ?2-glycoprotein I levels and phenotypes in a sample of Australian Caucasian adults
Mitotic chiasmata in human diplochromosomes
The use of racial admixture as evidence in intelligence research
Concerning the linkage relationships of the Gc and MNSs loci
Refined mapping of the gene for glutathione reductase on human chromosome 8
Sister chromatid exchanges in the peripheral blood of cigarette smokers and in lung cancer patients; and the effect of chemotherapy
Suppression of the frequencies of sister chromatid exchanges in Bloom's syndrome fibroblasts by co-cultivation with Chinese hamster cells
The cri du chat syndrome
Localization of a gene for human α-galactosidase B (=N-Acetyl-α-D-Galactosaminidase) on chromosome 22
Mapping of the linkage group GLO-Bf-HLA-B,C,A-PGM3
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings
Systematic analysis of 95 reciprocal translocations of autosomes
Identity of euchromatic bands from man to Cercopithecidae
XO/XY mosaicism and non-fluorescing Y chromosome in a male
Cytogenetic examination of the NOR activity in a proband with 13/13 translocation and in her relatives
Prenatal diagnosis of Meckel syndrome
Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes
Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies
Polymorphism of human salivary amylase
Demonstration of replication patterns corresponding to G- and R-type banding of chromosomes after partial sunchronization of cell cultures with BrdU or dT surplus
The testis as a secretory organ for H-Y antigen
Three chromosomes' (7;9;22) rearrangement and the origin of the Philadelphia chromosome
Gene frequency estimates for samples of black and white twins from the Philadelphia metropolitan area
Mutation rates from rare variants of proteins in Indian tribes
Partial trisomy-5p
Geroderma osteodysplastica (Human Genetics 40, 311?324) ? What would Virchow have thought about it?!
Familial basal cell nevus syndrome
Isozyme variations in acetaldehyde dehydrogenase (E.C.1.2.1.3) in human tissues
Partial monosomy of the short arm of chromosome 9
Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q-;6p+)
Red cell glucose-6-phosphate dehydrogenase deficiency and haemoglobin variants among ten endogamous groups of Maharashtra and West Bengal
Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter?q2200::q3200?qter)
No elevation of exchange type aberrations in lymphocytes of children with alcohol embryopathy
Complete or almost complete analogy of chromosome banding between the baboon (Papio papio) and man
Malate dehydrogenase types in the Asian-Pacific area, and a description of new phenotypes
Balanced and unbalanced pericentric inversion of a chromosome 14
The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship
A genetic study of two French Guiana Amerindian populations
Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation
Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BUdR treatment
C-bands in chromosomes 1,9, and 16 of twins
PGM1 subtyping by means of acid starch gel electrophoresis
Cytogenetic effects of influenza virus infection on male germ cells of mice
Comparison of thymidine, fluorodeoxyuridine, hydroxyurea, and methotrexate blocking at the G1/S phase transition of the cell cycle, studied by replication patterns
Appearance of hCG-receptor after conversion of newborn ovarian cells into testicular structures by H-Y antigen in vitro
A case of trisomy 22 with a probable Robertsonian translocation 21/22
10p- Syndrome associated with multiple chromosomal abnormalities
Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids
GM1-gangliosidosis: Accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types
Identification of a new serum protein polymorphism as transferrin
Inversion of ?fluorescent? segment in chromosome 3: A polymorphic trait
Genetic studies on the Gc subtypes
Familial and sporadic porphyria cutanea
Origin of mitotic cells of the chorionic villi in direct chromosome analysis
Un cas de r�tinoblastome bilat�ral avec monosomie 13 partielle (q12?q14)
Organization in vitro of ovarian cells into testicular structures
Replication of chromosomal DNA in cultured abnormal human cells
G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability
Studies on H-Y antigen in different cell fractions of the testis during pubescence
A genetic study of two French Guiana Amerindian populations
Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10)(q32;q26)
Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element
Chromosomal and histological changes in the reproductive organs of infertile men
Familial pericentric inversion of chromosome 1 with a note on reproductive risks
Partial trisomy 2q and familial translocation t(2;18)(q31;p11)
Binding studies of H-Y antigen in rat tissues
The anticlastogenic effect of various combinations of cysteamine, AET, HCT, and amino acids on chromosome damage by Trenimon and bleomycin in human lymphocytes in vitro
Mosaicism for an additional partial chromosome 8: 46,XX/47,XX+der(8)(p21?qter)
18p- Mosaicism
A new immunochemical method for the quantitative measurement of specific gene products in man-rodent somatic cell hybrids
Mapping of the linkage group GLO-Bf-HLA-B, C, A-PGM3
Kartagener's syndrome in sibs: Clinical and immunologic investigations
Hot spots and functional organization of human chromosomes
A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia
Cytogenetic and histologic analyses of spontaneous abortions
Differential silver carbonate staining of sister chromatids in BrdU-substituted chromosomes
Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2
Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies
Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11)
Interstitial deletion of chromosome 7 detected in three unrelated patients
Cytogenetic study in spermatocytes of mice and Chinese hamsters after treatment with isoniazid (INH)
A case of ring Y chromosome
Familial occurrence of severe ulnar aplasia and lobster claw feet: A new syndrome
Regional mapping of the gene for human lysosomal acid phosphatase (ACP2) using a hybrid clone panel containing segments of human chromosome 11
Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita
A cytogenetic survey of an institution for the mentally retarded
Inversions and other unusual heteromorphisms detected by C-banding
Mosaicism in XX males
Rapidly adhering cells in two cases of anencephaly
The Aarskog syndrome
Are NORs easily translocated to deleted chromosomes?
Cytologic observations in 35 individuals with a 5p- karyotype
Mitotic cycles in human cell strains with sex chromosomes aneuploidy
Genetic and biosynthetic studies of families carrying hemoglobin J ? Mexico: Association of ?-thalassemia with Hb J
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings
Chromosome analysis of bone marrow in mammals after treatment with isoniazid
Analysis of chromosome aberrations in bone marrow cells of rats after treatment with isoniazid
Chromosome analyses in man in the course of chemoprophylaxis against tuberculosis and of antituberculosis chemotherapy with isoniazid
The effect of isoniazid (INH) on Chinese hamster and mouse spermatogonia
Effects of isoniazid (INH) on the oogenesis of mice
Concluding remarks
Timing of meiotic stages in oocytes of the Syrian hamster (Mesocricetus auratus) and analysis of induced chromosome aberrations
Silver staining studies on the short arm variant of human chromosome 17
The effect of SH-SS transition in the structural organization of mitotic chromosomes
A nine-year cytogenetic follow-up of a patient injected with thorotrast
Hereditary sensory neuropathy, a new type
Differential staining in the secondary constriction regions of human chromosomes A1, C9, and E16 by a heat-hypotonic treatment technique
Deficiency of DNA ligase activity in Fanconi's anemia
The problem of partial endoreduplication
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p
Brother and sister with trisomy 10p
GLO polymorphism in two Polish population samples
A new rare phenotype of glycine-rich ?-glycoprotein
Anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid
The problem of partial trisomy 22 reconsidered
Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y
Reciprocal translocation and the Philadelphia chromosome
Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease. Familial and biochemical studies of a case found in Spain
Localisation r�gionale des g�nes humains LDHB, TPI, ENO2, PepB, PGK, ?GALA, G6PD et HGPRT par l'hybridation cellulaire intersp�cifique
The HLA system and leprosy in Thailand
Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection Negroids
Silver stain reveals nucleolus organizer regions on a satellited Yq chromosome
10q(q23?qter) duplication: GOTs, HK1, and other gene markers
Genetic polymorphism of the second component of human complement (C2)
Introductory remarks
List of participants
Nucleus anomaly test in Chinese hamster and in rat after treatment with isoniazid
Mutagenicity of isoniazid: Testing for somatic chromosome aberrations in mouse embryos
A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization
Trisomy 9p with an isochromosome of 9p
Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22
Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11)
Nucleoli of cultured human lymphocytes
Study of human male meiosis II-Q-banding in pachytene bivalents
Comparison of silver staining of nucleolus organizer regions in human lymphocytes and fibroblasts
Furrows and dermal ridges of the hand in patients with alcohol embryopathy
Evidence for a ?silent allele? GLO 0 at the glyoxalase I locus
Patau's syndrome and 13q21q translocation
Terminal deletion of the long arm of chromosome 1 in a malformed newborn
Balanced reciprocal whole-arm translocation t(1;19) in three generations
Centromeric banding (C) of sequentially Q- and R-banded human chromosomes
Lysosomal enzyme activities in different types of amniotic fluid cells measured by microchemical methods, combined with interference microscopy
Double translocation t(7;12),t(2;6) heterozygosity in one family
Quantitative studies on the arrangement of human metaphase chromosomes
Quinacrine and acridine-R banding without a fluorescence microscope
Human liver alcohol dehydrogenase isoenzyme variations
The transition in frequency of Y chromatin in males during the neonatal period
Variability and familial transmission of constitutive heterochromatin of human chromosomes evaluated by the method of linear measurement
Time and cell systems as variables in fusion experiments with polyethylene glycol
Trisomy-8 mosaicism: Report of a case
Partial deletion 10q
Ring chromosome 3 in a retarded boy
A fetus with recombinant of chromosome 8 inherited from her carrier father
Molecular and functional anomalies in two new mutant glucose-phosphate-isomerase variants with enzyme deficiency and chronic hemolysis
A new variant of human erythrocyte G6PD occurring at a high frequency amongst the population of two villages in The Gambia, West Africa
Geroderma osteodysplastica
The Roberts' syndrome
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils
Silver-staining specificity in metaphases after incorporation of 5-bromodeoxyuridine (BUDR)
Monogene inheritance of learning speed in DBA and C3H mice
Isochromosome for the long arm of the Y in an infertile male
A new cytogenetic aspect of polycythemia vera
Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15
Analysis of the HLA-ABC linkage disequilibrium: Decreasing strength of gametic association with increasing map distance
Juvenile sandhoff disease: Complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion
Inherited congenital normofunctional testicular hyperplasia and mental deficiency
The two human lactosylceramidases and their respective enzyme activity deficiency diseases: Inhibition studies using p-nitrophenyl-?-D-galactoside
X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations
Reexamination of paternal age effect in Down's syndrome
Multiple keukemic clones in acute leukemia of childhood
t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring
Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata
Familial translocation t(1p-;21q+) associated with Down's syndrome
Effect of phospholipases on Factor-VIII activity
Effects of caffeine on sister chromatid exchange (SCE) after exposure to UV light or triaziquone studied with a fluorescence plus Giemsa (FPG) technique
Models and assumptions in calculating the probabilities of detecting chromosomal mosaicism
Partial monosomy 13 and 21 due to a familial 13/21 translocation
Chromosomal aberrations in heavy smokers
Four cases of chromosome changes detected in course of prenatal diagnosis and probably originating in vitro
Structural aberrations of the X chromosome in man
On the incidence of unilateral and bilateral colour blindness in heterozygous females
Genetic markers in Malaysians: Variants of soluble and mitochondrial glutamic oxaloacetic transaminase and salivary and pancreatic amylase, phosphoglucomutase III and saliva esterase polymorphisms
No association of red cell adenylate kinase phenotypes with affective disorders
A further case of a 22;22 Robertsonian translocation associated with recurrent abortions
Karyotype-phenotype correlation: Mosaic trisomy 8 and partial trisomies of different segments of chromosome 8
Announcement
Dyslexia revisited
Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria
Announcement
A dynamic study in two new cases of X chromosome translocations
Patterns of association in the human metaphase complement: Ring analysis and estimation of associativity of specific chromosome regions
Reduced frequencies of Mitomycin-C induced sister chromatid exchanges in AKR Mice
An increased frequency of chromosomal changes and SCE's in cultured blood lymphocytes of 12 subjects vaccinated against smallpox
Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7
The fate of DNA statellites I, II, III and ribosomal DNA in a familial dicentric chromosome 13:14
Chromosome abnormalities and clinical and morphologic manifestations of chronic myeloid leukemia
Kinetics of 21-trisomic lymphocytes
Reliable detection of cystic fibrosis in skin-derived fibroblast cultures
Common and uncommon immunoglobulin haplotypes among Lebanese communities
De novo trisomy 4pter→q21
Structure and variability of human chromosomes analyzed by recent techniques
Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship
Identification of the origin of triploidy by HLA markers
Analysis of the Gc polymorphism in human populations by isoelectrofocusing on polyacrylamide gels. Demonstration of subtypes of the Gc1 allele and of additional Gc variants
HLA antigen, gene, and haplotype frequencies in Thailand
Variant chromosome 3 (inv3) in normal newborns and their parents, and in children with mental retardation
Terminal deletion of (1)(q42) and its phenotypical manifestations
Small metacentric nonsatellited extra chromosome
Ag staining of the nucleolus organizer (NO) and its relationship to satellite association
Lysosomal acid hydrolases in established lymphoblastoid cell lines, transformed by Epstein-Barr virus, from patients with genetic lysosomal storage diseases
Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation
Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls
Lack of association between psoriasis vulgaris and red cell acid phosphatase polymorphism
Evidence for the inheritance of silver-stained nucleolus organizer regions
Evaluation of Genetic Consultations in the public health service
Longueur du chromosome Y, intelligence et comportement dans une population de m�dico-l�gaux
Centromere inactivation in a case of turner variant with two dicentric iso-long arm Y chromosomes
45,X/47,XYY mosaicism in a patient with Turner's syndrome
Partial trisomy 10p in two generations
Human erythrocyte pyruvate kinase deficiency: The use of a kinetic study of mutant enzymes for the detection of heterozygotes
Occurrence of 1st division metaphases in human lymphocyte cultures
Male pseudohermaphroditism: Genetics and Clinical delineation
Chromosome 7 short-arm interstitial deletion (p14)
Types and frequencies of Q-variant chromosomes in a Japanese population
Partial deletion of 4p16 band in a ring chromosome and wolf syndrome