Human Genetics - 1974

162 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
A familial reciprocal translocation between three chromosomes
A phenotypically Turner-like female with karyotype 45,X/46,XY gonadoblastoma and fluorescent Y
A comment to the paper: Variations in normal human chromosomes
Pericentric inversion of ?fluorescent? segment in chromosome No. 3
�tude g�n�tique du r�tinoblastome
Cell cycles in human diploid and aneuploid strains
Labelling of human chromosomes with 3H-AMD
Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm
The quantity of viable cells at various stages of gestation
Esterase D polymorphism: Gene frequencies and family data
Studies on the location of the Y fluorescent body in human interphase nuclei
Densitometrische Untersuchung zum Polymorphismus C3
G-Band analyses of an established cell line of a human malignant glioma
Variation of several erythrocyte enzymes and serum proteins of Indonesians from North Sumatra
Familiar congenital absence of valves in the deep leg veins
A critical evaluation of HL-A phenotype and genotype frequencies in a large German population determined by platelet complement fixation and lymphocytotoxicity German population
Osteo-onychodysostosis: A new family
Satellite association and variations in length of the nucleolar constriction of normal and variant human G chromosomes
Variations of centromeric region of chromosome No. 1 and No. 9 in one family
The population distribution of genetic variants of human Esterase D
Chromosome constitution 47,XYY in relation to stature
?-Aminoadipic aciduria, a non-deleterious inborn metabolic defect
Investigation of a cell strain with trisomy 14 from a spontaneously aborted human fetus
Chromosome aberrations in full-term low birth weight neonates
Polyploidization in vitro: Formation of a predominantly triploid cell population in an originally diploid tissue culture of Microtus agrestis
Study of some serum group systems in the Mahishyas and the Muslims in 24-Parganas district, West Bengal
?1? Polymorphism of a Bantu population: Description of a mew allele PiL
On the problem of regional gene duplication in diploid fish of the orders Ostariophysi and Isospondyli
Partial trisomy 13: Karyotype 46,XY,-6,+t(13q,6q)
A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands
Genetic polymorphism of the human complement component C?3 among North Germans
Les taux des amino-acides libres dans le liquide c�r�bro-spinal chez les nourrissons trisomiques 21
Transferrin variants in the Indian subcontinent
Vergleichende Untersuchungen zum Polymorphismus des Posttransferrins (Pt) und der dritten Komponente des Humankomplements (C3)
A note on Nei's measure of gene diversity in a substructured population
Interspecific variability of soluble isocitrate dehydrogenase in primates
Interspecific variability of red cell phosphoglycerate kinase in primates
Mannose phosphate isomerase: Additional variants in primates
Down's syndrome
Autosomal reciprocal translocations in newborn children and their relatives
The clastogenic effect of azathioprine on human chromosomes in vitro
Frequency and genetic effect of 1 qh+
G-6-PD intanon
Comments in response to: Seasonal variation in the birth of children with aneuploid chromosome abnormalities
Chromosome aberrations in patients suffering acute organic phosphate insecticide intoxication
Ploidy effect on the radiation reaction of mammalian cells
Evaluation of a new round glass coverslip for cytological examination of cultured amniotic fluid cells
Serum ?2-glycoprotein 1 phenotype frequencies in an English population
Ein Beitrag zur Genese von XX-M�nnern
Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+
Ribosomal DNA sites in a metacentric chromosome fragment
On the relevance of non-histone proteins to the production of Giemsa banding patterns on chromosomes
Cross-reactions between human and animal plasma proteins
The formation of the abnormal chromosome in balanced homologous Robertsonian translocation carriers
Familial short arm deletion of chromosome No. 15
A family with congenital pulmonary valve stenosis
Fluorescence banding pattern of human and mouse chromosomes with a benzimidazol derivative (hoechst 33258)
Ein Fall von XX/XY-Chim�rismus mit normalem m�nnlichen Habitus
Down's syndrome in twins with discordant HL-A phenotypes
Comparative studies on the distribution of aberrations on human chromosomes treated with busulphan in vivo * and in vitro
The phenomenon of premature chromosome condensation: its relevance to basic and applied research
Unusual chromosome bands revealed by aging
Protective effect of reducdyn� against the chromosome damaging activity of 2,3,5-triethyleneimine-benzoquinone-1,4 on human lymphocytes in vitro
In vivo effect of ultrasound at human therapeutic doses on marrow cell chromsomes of golden hamster
Robertsonian translocation between the chromosome Y and 15
Production of C and T bands in human chromosomes after heat treatment at high pH and staining with ?Stains-All?
Autosomal deletions 46,XY,del(12)(p11) and 46,XY/46,XY,del(5)(p13) with no effect on physical or mental development
Subdivision of the human Y chromosome
Giant pigmented hairy nevus in two siblings
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy
Studies of amniotic fluid and cord blood in an infant with alpha1-antitrypsin deficiency
Ein seltener Ph�notyp im Adenosindesaminase-Polymorphismus: Hinweis auf die Existenz eines neuen Allels
Interchromosomal fibers: Human ultrastructural study by a recent technique
Placental alkaline phosphatase types in Germany
On the relationship between the frequency of association and the nucleolar constriction of individual acrocentric chromosomes
General and specific patterns of acrocentric association in parents of mongol children
Der Einflu� der ploidie auf die Strahlenreaktion von S�ugerzellen
Partial trisomy 8 (8q24) and the trisomy-8 syndrome
Esterase D-Polymorphismus: Darstellung in der hochspannungselektrophorese und mitteilung von allelh�ufigkeiten
Triploidy in man
An economic high speed electrophoretic screening system for hemoglobin S and other proteins
Antimutagens
Tertiary partial 14 trisomy 47, XX, +14q-
Chromatidaustausch und Heterochromatinver�nderungen menschlicher Chromosomen nach BUdR-Markierung
Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q?;18q+)
Participation of D-group chromosomes in satellite associations
Haemoglobin hasharon
Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome
Skeletal abnormalities in mouse embryos after irradiation of the sire
Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency
Chromosomal analysis of metastatic retinoblastoma cells
Der Einflu� der Ploidie auf die Strahlenreaktion von S�ugerzellen
Ploidy effect on the radiation reaction of mammalian cells
A case of 48,XXYY ?Paternal origin of the extra X chromosome
Quantitative studies on the arrangement of human metaphase chromosomes
A pilot scheme for a genetic clinic
Cross-reactions between human and animal plasma proteins
Studies on the mechanism of chromosome banding with trypsin
A presumptive tetrasomy for the short arm of chromosome 9
Enzyme electrophoresis on cellulose acetate gel
Breakage factor in systemic sclerosis and protector effect of L-cysteine
The behavior of ring chromosome 13
Les IgG dans les aberrations chromosomiques: �tude familiale de l'expression quantitative des allotypes du syst�me Gm et de certaines sous-classes d'IgG
Monosomy for the centromeric and juxtacentromeric region of chromosome 21
Tentative localization of a Hageman (factor XII) locus on 7q, probably the 7q35 band
The human red cell acid phosphatase activity and its statistical evaluation
Untersuchungen zum Polymorphismus der Galaktose-1-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese
Transferrin polymorphism in Central Thailand
Malformative syndrome with ring chromosome 13
Trisomy 12p due to familial t(12p-,6q+) translocation
Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency
Familial occurrence of omphalocele
Inherited (13; 14) translocation and reproduction
Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes
Serum polymorphisms in Down's syndrome
5-Ethyl-2?-deoxyuridine: Absence of effects on the chromosomes of human lymphocytes and fibroblasts in culture
Hyperkeratosis lenticularis perstans (Flegel)
Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis
Zur Problematik der Bestimmung seltener Varianten des C3-Polymorphismus
Cyclophosphamide-induced chromosomal aberrations in nontumorous patients
Automatic chromosome processing
The polymorphism of alanine aminotransferase (EC:2.6.1.2): Densitometrical assay
Tricho-rhino-phalangeal syndrome ? a seldom constitutional disorder. Case report
The Ellis-van creveld syndrome in an infant
Brother and sister with trisomy 10p: A new syndrome
Hemoglobin Siam ?2 15arg?2: A new ?-chain variant
46,XX gonadal dysgenesis and ovarian hypoplasia
Trisomy of the short arm of chromosome 17
Population genetics of soluble glutamic-pyruvic-transaminase in North Germans (L�beck)
Mucopolysaccharidosis VII: ?-Glucuronidase deficiency
Human autosomal deletion mapping and HL-A
Dermatoglyphics in trisomy 8 mosaicism
The evolution of the Phl-trisomic clone, in a case of chronic myeloid leukemia
1q+ variants in a normal adult population (one with a pericentric inversion)
Serogenetical study of Avar age populations
Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl
A triploid human abortus due to dispermy
Cytogenetic study of patients with ataxia-telangiectasia
Analyse der Koppelung zwischen dem HL-A-System und anderen Loci
3H-thymidine incorporation at the end of the S phase in cultured human lymphocytes
Erythrocyte-membrane proteins in Spielmeyer-vogt's disease and Huntington's Chorea
Inheritance of the allele Pr of the red cell acid phosphatase (EC. 3.1.3.2) in a Caucasian family
Multiple tumors of the skin: Clinical, histopathological, and genetic features
Etude d'une modification de l'expression du locus AB0 chez un sujet 47,XY,(?18q-)+
PGM3 (PGM1, PGM2) Phenotyping in human leucocytes with a simplified method
The polymorphism of alanine aminotransferase (EC: 2.6.1.2): Spectrophotometrical assay of GPT
Un cas d'allongement des bras longs d'un chromosome B4 par insertion [46XX:ins. (4;?)(q23;?)]
Genetic variation of mannose phosphate isomerase in man
Genetic variation of aconitate hydratase in man
Genetic polymorphism of hexokinase in primates
Comparison of cell cycle time in normal and trisomic cells
Chromosome constitution of 500 infants dying during the perinatal period
Trisomy for short arm of chromosome 20
Studies on the polymorphism of the soluble glutamic-pyruvic-transaminase in the population of Northern Bavaria (Germany) population of Northern Bavaria (Germany)
Studies on the polymorphism of the red cell acid phosphatase in the population of Northern Bavaria (Germany)
Verification of the previously reported t(3p-;17q+) by G banding
Genetical load in man
Identification of chromosome anomalies in the blastic phase of chronic myelocytic leukemia (CML) by Giemsa- and quinacrine-banding techniques
Colored reverse-banding of human chromosomes with acridine orange following alkaline/formalin treatment: Densitometric validation and applications
H3-Deoxycytidine incorporation into X-chromosomes differentially condensed under 5-bromodeoxyuridine tratment in cases of 49,XXXXY, 48,XXXX, 47,XXX, 46,X,i(Xq), and 45,X/46,X,i(Xq)
The effects of parental age on some phenotype frequencies in Down's syndrome
Erweiterte Mosaikhypothese als Erkl�rung f�r XX-M�nner