Human Genetics - 1977

242 articles | Last updated: 2025-12-03 14:12:56
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Article Title Cauc. White Euro. Other Phrases Used
T A T A T A T A
Elimination of nucleolus organizers in a case of 13/14 Robertsonian translocation
A true microculture technique for human lymphocytes
A possible association of long Y chromosomes and fetal loss
A photometric method for quantifying the polymorphisms in human acrocentric chromosomes
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger
The 11q- syndrome
Neue Befunde zur Struktur der Chromosomen
A new variety of hereditary sensory neuropathy
Somatic stability of variant C-band heterochromatin
Tentative evidence for 3?4 haematopoetic stem cells in man
Evidence for two additional common alleles at the PGM1 locus (Phosphoglucomutase-E.C.:2.7.5.1)
Duchenne muscular dystrophy
Premeiotic and early meiotic stages in the pollen mother cells of Eremurus and in human embryonic oocytes
Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease)
Karyological characterization of a human lymphoblastoid cell line resistant to 6-thioguanine
Differential chromosomal radiosensitivity within the first G1-phase of the cell cycle of early-dividing human leukocytes in vitro after stimulation with PHA
Gottron-Just-Preis
Hirschsprung's disease and congenital deafness
Inheritance of Ag-stainability of nucleolus organizer regions
Two cases of trisomy 21 and one XXY case with atypical clinical features
Genetic considerations on association between HLA and disease
Linkage between phosphoglycerate kinase and Xg in a large German kindred
No evidence for linkage disequilibrium between Bf and GLO in African Negroids Negroids
Partial 9q trisomy associated with a 9,21 translocation
Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase
Monosomy 21 in a human spontaneous abortus
Unusually long survival in a case of full triploidy of maternal origin
Inbreeding in recessive diseases
Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)
Length of human constitutive heterochromatin in relation to chromosomal contraction
Psoralen/UVA treatment and chromosomes
Size variation polymorphisms of the short arm of human acrocentric chromosomes determined by R-banding by fluorescence using acridine orange (RFA)
Genetic aspects of febrile convulsions
Glyoxalase I polymorphism in South African Bantu-speaking Negroids Bantu-speaking Negroids
A rare adenosine deaminase allele (ADA6) in an Arab Moslem village in Israel Arab Moslem
De novo trisomy 9pter?q13
Mosaic trisomy 9: Two additional cases
Four new cases of dicentric Y chromosomes
Fluorescent C bands of human chromosomes with 33 258 Hoechst stain
Comparative cytogenetic and histologic studies on early malignant transformation in mesothelial tumors of the ovary
Benzpyrene-Induced sister chromatid exchanges in lymphocytes of patients with lung cancer
Characterization of ?-galactosidase isoenzymes in normal and fabry human-Chinese hamster somatic cell hybrids
Psychophysiologic test performance in normal twins and in a pair of identical twins with essential tremor that is suppressed by alcohol
IVth International Workshop on Human Gene Mapping
Mithramycin and DIPI: A pair of fluorochromes specific for GC- and AT-rich DNA respectively
Mosaic 45,X/47,XY,+18
Clinical and cytogenetic studies of two infants with partial monosomy G
Karyotype peculiarities of malignant lymphomas
Partial deletion of the long arm of chromosome No. 13
Announcement
Genetic control of ethanol action on the central nervous system
Analysis of the frequency and distribution of sister chromatid exchanges in cultured human lymphocytes
Partial trisomy 10p and familial translocation t(7;10)(p22;p12)
The Coffin syndrome
Origin of the translocated segment of the 14q+ marker in non-Burkitt lymphomas
Serum hexosaminidase activity in I-cell disease carriers
Non-random association of trypsin-banded human acrocentric chromosomes
Comparative in vivo mutagenicity testing by SCE and micronucleus induction in mouse bone marrow
Different N-terminal amino acids in the MN-glycoprotein from MM and NN erythrocytes
Determination of prenatal sex ratio in man
Residual family resemblance for PTC taste sensitivity
Three glucose 6-phosphate dehydrogenase variants found in Japan
Variants of galactose-1-phosphate uridyl transferase in the Greek populations Greek populations
Ring 11 chromosome (46,XX,r11(p15q25))
The relationship between DNA replication and chromosome structure
A newborn child with karyotype 47,XX,+der(12) (12pter?12q12::8q24?8qter),t(8;12) (q24;q12) pat
Syndrome +12p
Cri-du-chat Syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat karyotype
Study of the human male meiosis
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)
Classification of qh regions in human chromosomes 1, 9, and 16 by C-banding
Yq deletion, aspermia, and short stature
Variable composition of X chromosomal mosaics: Due to asynchronous cell division during early embryogenesis?
Serum Gc system in liver cirrhosis and hepatoma
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)
Ring chromosome 4 and wolf syndrome
Dispermic origin of a 69,XXY triploid
Isochromosome Yq in a woman with atypical Turner's syndrome
A case of 9p- syndrome
Nonrandom chromsome rearrangements in 27 cases of human myeloid leukemia
Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women
Direct assignment of citrate synthase (CS) gene to human chromosome 12 in man-mouse somatic cell hybrids
Effect of nitrofurantoin on meiosis of the male mouse
?Gd(-) H�tel Dieu?: A new G-6PD variant with chronic hemolysis in a Negro patient from Senegal Negro
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation
Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile
On the population genetics of the red cell glyoxalase I (GLO)
Inhibition of the development of Q-bands on human chromosomes by netropsin
The effect of cyclophosphamide on the centromere separation sequence in Chinese hamster spermatogonia
Analytical review enzymatic defects of hereditary porphyrias: An explanation of dominance at the molecular level
Duffy blood group and hemoglobin variants
Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids Chinese (appears in 'Chinese hamster' as part of the animal species name)
Studies on steroid hormone refeptors (5 ?=dihidrotestosterone, estradiol, and dexamethasone) in cultured human fibroblasts and amniotic fluid cells
Absence of a relationship between degree of white ancestry and intellectual skills within a black population black population
A new case of XX-male (XX/XXY mosaic)
Red cell adenylate kinase phenotypes in the affective disorders
Incidence of seizures and EEG abnormalities among offspring of epileptic patients
UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes
12pter ? 12p 12.2: Possible assignment of human triose phosphate isomerase
Autosomal recessive microcephaly associated with chorioretinopathy
Replication bypass model of sister chromatid exchanges and implications for Bloom's Syndrome and Fanconi's anemia
Three rare G-6-PD variants from Porto Alegre, Brazil
Pericentric inversion and partial monosomy 4q associated with congenital anomalies
A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter?p22::p22?qter))
Genetic variants of cytoplasmic malate dehydrogenase (MDH:EC:1.1.1.37) in populations in England and the Indian subcontinent
Variation in the Philadelphia chromosome
Full monosomy 21: A clinically recognizable syndrome?
Pitfalls in the use of chromosome variants for paternity dispute cases
Population genetics of ?1-Antitrypsin in the Netherlands
Meiosis I non-disjunction as the main cause of trisomy 21
Alpha-1-Antitrypsin phenotypes in Lyon, France
Chromosome banding study of the Cornelia de Lange syndrome
18p- Syndrome resulting from 14q/18q ?dicentric? fusion translocation
Karyotyping of bone-marrow cells in hematologic diseases
The localization of rDNA in small, nucleolus-like structures in human diplotene oocyte nuclei
Rapid determination of polyploidy in human chrorionic tissue sections
Phosphoglucose isomerase (PGI) variants in the Netherlands
Deletion long arm 13
Three cases of hereditary hemolytic anemia with pyrimidine 5?-nucleotidase deficiency in a Japanese family Japanese family
Pachytene mapping of the C 9 and acrocentric bivalents in the human oocyte
Likely linkage: Inv with Jk
Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1
Role of clozapine in the occurrence of chromosomal abnormalities in human bone-marrow cells in vivo and in cultured lymphocytes in vitro
Dermatoglyphic differences between 45,X and other chromosomal abnormalities of Turner syndrome
Genetic studies of the Macushi and Wapishana Indians
Localization of HLA on the short arm of chromosome 6
Clozapine-induced agranulocytosis
Genetic studies of the Macushi and Wapishana Indians
Split hand and foot deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC)
LBA technique in the detection of chromosome variants
Cell division and sister chromatid exchanges in 45,X/46,X,i(Xq) mosaicism
Lymphedema ? Distichiasis
A sibship with hypervalinemia
Familial incidence of L-Xylulosuria
Y to X translocation in man
DIPI and DAPI: Fluorescence banding with only negligible fading
Haplotype analysis of the linkage group HLA-A:HLA-B:Bf and its bearing on the interpretation of the linkage disequilibrium
Erythrocyte superoxide dismutase in different racial groups in Malaysia racial groups
Human triploid embryo
Scientific method and the Philadelphia chromosome
Human DNA replication: Fiber autoradiographic analysis of diploid cells from normal adults and from Fanconi's anemia and ataxia telangiectasia
Frequency of Ag-stained nucleolus organizer regions in the acrocentric chromosomes of man
Recurrent abortion associated with a balanced 22;22 translocation, or isochromosome 22q in a monozygous twin
Partial trisomy 14q due to familial t(14q-, 11q+) translocation
47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat
Pure gonadal dysgenesis (Type XX)
Investigations on the polymorphism of glyoxalase I (EC 4.4.1.5) in the population of Hessen, Germany
Small structural changes of chromosome 8
Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
N-Band polymorphism of human acrocentric chromosomes and its relevance to satellite association
Bf polymorphism: Another variant (S0.8)
Translocation D/D involving two homologous chromosomes of the pair 15
Nonlinkage between C6 and chromosome 6 markers
Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods
A survey on maternal age and karyotype in Down's syndrome in Japan, 1947?1975
Plasma noradrenalin and dopamine-beta-hydroxylase during behavioral testing of sexually deviant XYY and XXY males
The Chicago variant of clinical galactosemia
Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase
Linkage relationships of Lp and Ag serum lipoproteins with 25 polymorphic markers
A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls
Risk for short arm 10 trisomy
Distribution of human chromosomes on the metaphase plate using banding techniques
Polymorphism of red cell glyoxalase 1
Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21
Studies of the meiotic behavior of a translocation t(10;13)(q25;q11) in an oligospermic man
Unusual translocation (10;22) in chronic myelogenous leukemia
Anomalous cellular proliferation in vitro associated with Huntington's disease
Banding and spiralization of human metaphase chromosomes
The 11q- syndrome: Another case report
Grandmaternal age at birth of parents of children with trisomy 21
A case of chronic myeloid leukemia with a translocation (12;22)(p13;q11)
Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome
Sister chromatid exchanges in balanced translocation carriers and in patients with unbalanced karyotypes
The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsD 0 allele
Localization of chromatid breaks in Fanconi's anemia, using three consecutive stains
Combined silver staining of the nucleolus organizing regions and Giemsa banding in human chromosomes
Partial trisomy 21
Activation of mouse ribosomal RNA genes at the 2-cell stage
Announcement
Partial trisomy 12p due to t(12;21)pat translocation
An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age
On consanguineous marriages and the genetic load
Elevated sister chromatid exchange rate in lymphocytes of subjects treated with arsenic
“de novo” trisomy 1q32→1qter and monosomy 3p25→3pter
A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9
The consequences of the Philadelphia chromosome rearrangement in chronic myeloid leukemia
De novo trisomy 9pter?q13
Psoriasis vulgaris and genetic markers
Confirmation of the assignment of the chimpanzee thymidine kinase and galactokinase genes to chromosome 19
The human PGM-2 and its chromosomal localization in man-mouse hybrids
Ring chromosome 9
The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy
Localisation régionale des gènes humains IDHS, MDHS, PGK, α-GAL, G6PD par l'hybridation cellulaire interspécifique
?-Galactosidase deficiency in juvenile and adult patients
Quantitative analysis of C-bands based on optical density profiles in human chromosomes
Gm and Km(Inv) frequencies in two Roumanian populations
Parental origin of the extra chromosome in Down's syndrome
HLA-A, B, C gene and haplotype frequencies in Vienna
Short-arm deletion of an X chromosome (45,XO/46,XX p-)
Chromosomes 1 in 14 ovarian cancers
Fetal cells in the maternal blood
Malaria and hereditary ovalocytosis
Flow microfluorometric DNA content measurements of tissue culture cells and peripheral lymphocytes
A 3/4 reciprocal translocation in two unrelated families
A case of 46,XY,t(1;13) (q24;q32) with mental retardation
Meiotic chromosomes in an infertile male with an unbalanced Y/13 translocation
Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes
Genetic markers in Libyan Jews
Inversion 19 and isochromosome short arm 17 or 18
The length of the Y-chromosomes in men examined by forensic psychiatrists
Risk for recombinants in pericentric inversions of the (p11?q21) region of chromosome 18
Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15
Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter?cen?p22:: p11?qte)
Reciprocal or nonreciprocal human chromosome translocations?
New phenotypes of serum ? 1-antitrypsin in Japanese detected by gel slab isoelectric focusing
A casuistic report on the Gruber or Meckel syndrome
X-Chromosome replication in parthenogenic benign ovarian teratomas
Bloom's syndrome: DNA replication in cultured fibroblasts and lymphocytes
Classification of ? 1-antitrypsin (Pi) phenotypes by isoelectrofocusing
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)
?ere?evskij-Turner's syndrome or Turner's syndrome
The frequency and distribution of sister chromatid exchanges in human chromosomes
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU)
LBA technique in the detection of chromosome variants
Improved detection of ?-thalassaemia carriers by a two-test method
A case of (13q;18q) translocation with proximal 13q monosomy
Partial trisomy 16q-
Ring 13 or ring 14: distinction by banding analysis of a culture derived from tissue frozen for 10 years
Alpha-1-antitrypsin phenotypes in a group of newborn infants in Somalia
Evidence for postmeiotic expression of ribosomal RNA genes during male gametogenesis
The vitamin D binding of the common and rare variants of the group-specific component (Gc)
Nonmosaic 46,X,r(Y) karyotype with female phenotype
Molecular cloning of DNA
Investigations on the polymorphism of sperm diaphorase in man
Comparative investigations with Trypaflavin in metaphase-II oocytes and in dominant lethal assay
Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)
Parallel occurrence of oxidant-sensitivity and decreased inhibition by NADPH in G-6-PD Lublin and G-6-PD Poznań
Y to X chromosome translocations
Announcement
Origin of acrocentric trisomies in spontaneous abortuses
Gene diversity in Indian populations