Human Genetics - 1980

239 articles | Last updated: 2025-12-03 14:12:56
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Chromosomal studies of leukemic and preleukemic Fanconi's anemia patients
The delivery of genetic counseling services in Europe
The 11q;22q translocation: A European collaborative analysis of 43 cases
A survey on the formation and localization of secondary isozymes in mammalia
Chromosome studies on lymphocytes of patients under cytostatic therapy
Prevention of chromosomal breakage in Fanconi's anemia by cocultivation with normal cells
Abnormal cerebral cortical convolutions in an XYY fetus
Phenotypic conversion of human erythrocytes by H-Y antigen
Effect of malathion on nucleic acid synthesis in phytohemagglutinin-stimulated human lymphocytes
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes
Salivary peroxidase, Pm, and Ph protein polymorphisms in Malaysians
Incidence of mucopolysaccharidoses in Israel: Is hunter disease a ?Jewish disease?? Jewish
Perinatal mortality and XY/XX mosaicism
The ?happy puppet? syndrome in two siblings
Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation
H-Y antigen in X,i(Xq) gonadal dysgenesis: Evidence of X-linked genes in testicular differentiation
Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea
Substrate affinity in PGM1, PGM2, and PGM3 isozymes
Serum Gm system in liver cirrhosis and hepatoma
Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia
Trisomy 8
Chromosome studies on lymphocytes of patients under cytostatic therapy
A case of r(21) with stigmata of atypical Down syndrome
Gc X and Gc Y revealed by immunofixation electrophoresis
A new approach in the evaluation of chromosome variants in man
Cytogenetic evidence for the absence of an inactivated X chromosome in a human female (XX) breast carcinoma cell line
Anatomic and chromosomal anomalies in 639 spontaneous abortuses
Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses
A new procedure for the determination of transferrinC (TfC) subtypes by isoelectric focusing
Pi M4: An additional Pi M subtype
Venous thromboembolism and AB0 blood groups in a Brazilian population
G6PD ciudad de la habana: A new slow variant with deficiency found in a cuban family
13/14 translocation in a man with reproductive failure
Clinical consequences of Xp-
Sequence organization of animal nuclear DNA
The fragile site on chromosome 16 (q21q22)
Y-to-X chromosome translocation observed in two generations
Heart-hand syndrome
On the inadequacy of quinquennial data for analyzing the paternal age effect on Down's dyndrome rates
Dihydropteridine reductase variation in man and the characid fish ?Cheirodon axelrodi?: Evidence for a dimeric enzyme structure
Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism
G6PD deficiency in senile cataracts
Gd(-) Rennes a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France
Announcements
Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment
The effect of cyclophosphamide and isoniazid (INH) alone and in combination on the centromere separation sequence in chinese hamster bone marrow cells
H-Y antigen expression in a case of XX true hermaphroditism
An extra idic(15p)(q11) chromosome in Prader-Willi syndrome
The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31)
Announcements
Familial congenital diaphragmatic defect: Review and conclusions
Full trisomy 7 and Potter syndrome
Interstitial deletion of the long arm of chromosome 7
A new R-banding technique in clinical cytogenetics
Pattern of chromosomal replication in synchronized lymphocytes
Human cells in suspension 2
Duchenne muscular dystrophy
Telomere and centromere association tendencies in the human male metaphase complement
Is there a relationship between sex of cystic fibrosis carriers and sex ratio of their offspring?
Do numerical polymorphisms exist at the human 5 S locus?
Morquio's disease type A: Absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase
Polymorphisme �lectrophor�tique des prot�ines et enzymes s�riques et �rythrocytaires chez le chimpanz� (Pan troglodytes)
Association frequency and silver staining of nucleolus organizing regions in hyperthyroid patients
Random position of human heterochromatin-bearing chromosomes in first and third mitoses of lymphocyte cultures
Balanced transmission of centromeric fission products in man
Where is the gene for GALT?
Arrangement of chromosomes in the interphase nucleus of plants
Recent adoption studies of IQ
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
Aberrant testicular differentiation in 46,XY gonadal dysgenesis: Morphology, endocrinology, serology
A case of pure red cell aplasia with a high incidence of spontaneous chromosome breakage: A possible X-ray sensitive syndrome
Chromosome-breaking agent of low molecular weight in human systemic Lypus Erythematosus
Cytogenetic study of a large black kindred: Inversions, heteromorphisms, and segregation analysis 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
Individual variation of centric heterochromatin in man
Inherited erythrocyte phosphofructokinase deficiency: Molecular mechanism
Gm and Inv [Km] allotypes among Libyan and Ashkenazi Jews, and Armenians living in Israel Libyan and Ashkenazi Jews, and Armenians living in Israel
Studies on blood groups and other genetic markers in forest Nentzi: Variation among the subpopulations
Sister chromatid exchanges in protein-energy malnutrition
On procaryotic gene expression in eucaryotic systems
A new case of Y to X translocation in a female
Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation
Possible origin of a small bisatellited additional chromosome
Body measurements of patients with streak gonads and their bearing upon the karyotype
Pi Ecincinnati: A new alpha1-antitrypsin allele in three negro families negro
A linkage study of hereditary ataxias and related disorders
Studies on the influence of liquid holding in Con-A stimulated human peripheral blood lymphocytes on mitosis and X-ray induced chromosome aberrations
Ultrastructural changes of the intercellular relationship in impaired human spermatogenesis
Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants
Paracentric inversion in man: Personal experience and review of the literature
Genetic linkage between Bf S0.7 (Bf S1) and HLA-Bw50
Data on linkage relations between GLO and 21-hydroxylase
Announcements
A synopsis of the human Y chromosome
Recurrence risks for down syndrome
Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts
Activity of rRNA genes in cells of a patient with Down syndrome mosaic
Human cells in suspension 3
Regional assignment of a 2.1-kb repetitive sequence to the distal part of the human Y heterochromatin
5-Bromodeoxycytidine in the study of sister chromatid exchanges in human lymphocytes
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
Diaphragmatic defects in children of consanguineous parents
Silver-Stained accessory structures on human sex chromosomes
X-linked steroid sulfatase: Evidence for different gene-dosage in males and females
Regional assignment of the gene locus for steroid sulfatase
Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes, with a note on G-6-PD and the malaria hypothesis South African Negroes
Two reciprocal translocations t(9p+;13q?) and t(13q?;21q+)
H-Y antigen in 46,XY gonadal dysgenesis
Rare phenotypes of placental alkaline phosphatase an analysis of relationships with some neonatal and maternal variables
Detection of laser-UV microirradiation-induced DNA photolesions by immunofluorescent staining
Variants of erythrocyte glucose-6-phosphate dehydrogenase (G6PD) in Bulgarian populations
Alpha-1-protease inhibitor phenotypes and serum concentrations in Thailand
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
Cell selection in vivo
Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16
Chimerism 46,XX/46,XY in a phenotypic female
Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial clinical manifestations in female carriers
Turner syndrome patients are H-Y positive
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
Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding robertsonian translocations
Silver-stained synaptonemal complexes of human pachytene bivalents studied by light microscopy
A family with whistling-face-syndrome
Partial trisomie 5q: Three different phenotypes depending on different duplication segments
Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing
Bipolar manic-depressive psychoses: Results of a genetic investigation
Chromosome heteromorphisms in the Japanese
Old Chinese observation correlated to AB0 groups
A gene controlling H-Y antigen on the X chromosome
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
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223
Intracellular concentrations of phenylalanine, tyrosine and ?-aminobutyric acid in 13 homozybotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals
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
Cd bands and centromeric function in dicentric chromosomes
The pipette method: A new rapid technique for chromosome analysis in prenatal diagnosis
Cerebro-costo-mandibular syndrome
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? Amerindian
?1-antitrypsin (Pi) phenotypes in a village population from the Gambia, West Africa
Altered sensitivity to colchicine and PHA in human cultured cells
Nomarski-optical studies of human chromosomes R-banded with barium hydroxide
Determinants of blood pressure in Japanese-American families Japanese-American
Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation
The presence of androgen-binding receptors in genital and nongenital skin fibroblasts
Reply to the letter of Prieto et al. Concerning our paper on a case of 13q;18q translocation
Acrodysostosis and blue eyes
Cases observed
Announcements
XY females with enzyme deficiencies of steroid metabolism
Trisomy 13 in a 4-year-old child
Partial 4q duplication due to Inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of Factor X
Partial monosomy of long arm of chromosome 4 due to interstitial deletion
Syndrome of lymphoedema and distichiasis
Lymphocyte proliferation in Down's syndrome measured by sister chromatid differential staining
A deleted extra chromosome 22 identified by DNA replication banding
Dominant inheritance of cleft of the soft palate
The chromosome changes in non-Burkitt lymphomas
Possible mutagenicity of the psychoactive phenothiazine derivative perazine in vivo and in vitro
Relationship between measured chromosome distribution parameters and Ag-staining of the nucleolus organizer regions
The identification of human chromosomes by quinacrine fluorescence after hybridisation in situ
Deficiency of neuraminidase in the sialidoses and the mucolipidoses
Patterns of cyclic AMP phosphodiesterases during rat testis development
Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: Clinical, genetic and molecular studies in six new Spanish patients
Epidemiology of alpha1-antitrypsin deficiency in the Netherlands
Familial determinants of blood pressure in Northeastern Brazil
Formal genetics of phosphoglycolate phosphatase (PGP): Investigation on 272 mother-child pairs
Human phosphoglycolate phosphatase (PGP) E.C.3.1.3.18: Linkage analysis
Sister chromatid exchange in cigarette smokers
On the new policy for reports on chromosomal anomalies
Arrangement of chromatin in the nucleus
Reciprocal translocation t(5;6)(p13;q27) through three generations: Case report of cri du chat syndrome
Assignment of a structural gene for a fourth human diaphorase (DIA4) to chromosome 16 in man-mouse somatic cell hybrids
Banded karyotypes from bone marrow: A clinical useful approach
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk
Satellite associations and silver staining in a case of multiple G and D variants
The genetic defect in the various types of human β-galactosidase deficiency
Partial short arm deletion of the X chromosome 46,X,del(X)(qter?p21:)
The tetraphocomelia-cleft palate syndrome in identical twins
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
A 45,X male with translocation of euchromatic Y chromosome material
Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p
Etude preliminaire de stades de la méiose humaine dans les spermatocytes et les ovocytes
Meiotic studies in human semen
Parental origin of de novo chromosome rearrangements
Effect of malathion on the genetic material of human lymphocytes stimulated by phytohemagglutinin (PHA)
HLA-A, B, C, DR alleles in congenital adrenal hyperplasia
Report of nomenclature meeting for α1-antitrypsin
Announcements
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids
Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion
Methods for analysis of the mutagenicity of indirect mutagens/carcinogens in eukaryotic cells
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
Has diagnostic ultrasound mutagenic effects?
Subtypes of the phosphoglucomutase-1 (PGM 1) locus detectable in Polish populations by isoelectric focusing on cellogel Polish populations
Different sensitivity of diploid and trisomic cells from patients with Down syndrome mosaic after treatment with the trifunctional alkylating agent trenimon
Pi Zpratt : A new alpha1-antitrypsin allele in an American negro family negro
On estimating penetrance of the retinoblastoma gene
Retinoblastoma: Host resistance and 13q- chromosomal deletion
Nonrandom distribution of exchange points in patients with reciprocal translocations
Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia
Q- and C-band polymorphisms in patients with ovarian or breast carcinoma
On the structure and polymorphism of the human chromosome no. 15
Prefixation chromosome banding with heparin
Chromosome variants in children referred for cytogenetic examination from two paediatric departments during a 12-year-period