Human Genetics - 1976

211 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13
Maternal and paternal origin of extra chromosome in trisomy 21
Genetics of the +p9 syndrome
A test for heterozygocity of 21-hydroxylase deficiency
Comparative studies on the specificity of anticlastogenic action in human lymphocytes in culture
Association of duffy blood groups with the suckle cell trait
Epidermolysis bullosa dystrophica dominans (Pasini)?A primary structural defect of the anchoring fibrils
Conduite antisociale et longueur du chromosome Y
Esterase D polymorphism: Description of the ?new? allele EsD4
A note on suxamethonium sensitivity and serum cholinesterase variants
Short arm deletion of an X chromosome, 46,XXp-
Does full monosomy 21 exist?
Announcement
Origin of the extra chromosome No. 21 in Down's syndrome
Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups
Partial trisomy 2q and familial translocation t(2;12)(q31;q24)
Inherited congenital normofunctional testicular hyperplasia and mental deficiency
Pyruvate kinase isozymes in man
Isochromosome X in man: Different DNA replication patterns in the long arms
Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan
Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome
Keratosis palmo-plantaris cum degeneratione granulosa
21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes
Gene dosage effect in human triploid fibroblasts
Chromosomes in old age: A six year longitudinal study
Partial trisomy 15q1
Hereditary retinoblastoma: Penetrance, expressivity and age of onset
A hormone-like action of H-Y antigen and gonadal development of XY/XX mosaic males and hermaphrodites
The human leukocyte test system
Chromosomal constitution of nucleolus-associated chromatin in man
Partial trisomy 11,46,XX,-3,-20,+der3,+der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20
First International Symposium on HLA and Disease
5-Methylcytosine in heterochromatic regions of chromosomes in Bovidae
Cytogenetic investigations in a new case of Bloom's syndrome
Four familial translocations ascertained through spontaneous abortions
Aspermia, associated with a presumably balanced X/autosomal translocation
Satellite-association frequency and rDNA content of a double-satellited chromosome
Morphologic variability of human chromosomes: Polymorphism of constitutive heterochromatin
Banding of human chromosomes with basic fuchsin
GD (-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase
Confirmation of linkage between the loci for HL-A and glyoxalase I
Tricho-rhino-phalangeal syndrome
Ein Fall von testicul�rer Feminisierung mit dem Karyotyp 47,XXY
Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote
Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p
Polymorphism of ?1-antitrypsin in a Portuguese population
The relation of sex, age, smoking status, birth rank and parental ages to pseudocholinesterase activity and phenotypes in a sample of Australian Caucasian adults
Cell selection in vivo in normal/aneuploid chromosome abnormalities
Trisomy 9p resulting from maternal 9/21 translocation
The role of trypsin in the pre-treatment of chromosomes for giemsa banding
Pyruvate kinase isozymes in man
Possible genetic consequences of relaxed selection against common disorders with complex inheritance
Is haemoglobin G? Philadelphia linked to ?-thalassaemia?
Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency
Zur Populationsgenetik der Phenylketonurie in der DDR
DNA replication patterns of the early S phase from amniotic fluid cells as revealed by a Giemsa staining technique
Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations
Chromosome measurements on an XXp+ male
Evidenz f�r eine Mosaikstruktur der Netzhaut bei Konduktorinnen f�r Dichromasie
Paracentric inversion of a human chromosome 7
Cytochemical study of pseudoisocyanine stained human chromosomes
Ss blood Group Associated PAS-staining polymorphism of glycoprotein 3 from human erythrocyte membranes
Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome
Distribution of spontaneous chromosome breaks in human chromosomes
Increased sister chromatid exchange events in the human late replicating X
Exomphalos and trisomy 18 syndrome
Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36)
Pathomorphological changes in an early spontaneous abortus with triploidy (69,XXX)
A new translocation in chronic myelogenous leukemia
Studies on the altered electrophoretic type of the factor VIII related antigen
Length of human C-bands in relation to the degree of chromosome condensation
Trisomy 6 associated with aplastic anemia
A cytogenetic study of human spontaneous abortions using banding techniques
Hereditary hemolytic anemia with erythrocyte pyrimidine 5?-nucleotidase deficiency in Spain
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells
A new genetic variant of galactose-1-phosphate uridyl transferase
Laser UV microirradiation of interphase nuclei and post-treatment with caffeine
Chromosome anomalies of infants dying during the perinatal period and premature newborn
Segmentation of human chromosomes induced by 5-ACR (5-azacytidine)
Studies on frequency of Y chromatin in human sperm
Hand dermatoglyphics in trisomy 4p
Mitosis of maternal lymphocytes in the presence of fetal cells: Possible implication in prenatal diagnosis from fetal blood samples
?Jumping? satellites in three generations: A warning for paternity tests and prenatal diagnosis
Localization of the Bf locus within the HLA region
Glutamic pyruvic transaminase and esterase D types in the Asian-Pacific area
Hautleistenverlauf bei Homo- und Heterozygotie f�r Morbus Wilson (hepatolentikul�re Degeneration)
G6PD lozere and trinacria-like
The red cell 3 phosphoglycerate kinase polymorphism
Trisomy 9 associated with an enlarged 9qh segment in a liveborn
Chromosomal and clinical findings in 110 females with Turner syndrome
Esterase D polymorphism in Chinese and Japanese
Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects
Routine G-banding in prenatal diagnosis of chromosomal disorders
Confirmation of the human thymidine kinase locus, 17q21 ? 17qter, by means of a man-mouse somatic cell hybrid, D98/AH-2 X LMTK?Cl-1D
Possible linkage of HL-A and GLO
Chromosomal damage in epileptics on monotherapy with carbamazepine and diphenylhydantoin
The distribution of esterase D variants in different ethnic groups ethnic groups
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome
Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome
Dosage effect of SOD-A gene in 21-trisomic cells
Cytogenetic and cell-surface marker studies in two non-Hodgkin's lymphomata of T-cell origin
A boy with 47,X,del(X)(p11?q13::q21?q24),del(Y)(q11)
A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique
Cytogenetic survey of a hospital for the mentally retarded
Hypoxanthine-guanine phosphoribosyl transferase deficiency
Genetic loci of components of the classical and alternate pathway of complement activation: A new dimension of the immunogenetic linkage group (HLA) on chromosome 6 in man
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm
Partial trisomy 9q- chromosomal syndrome
Stability of X chromosome differentiation in mouse embryos
Mental retardation and congenital malformations associated with a ring chromosome 9
Localization of the human GLO gene locus
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine ? threonine at position 75 (E 19) of the ? chain
C and Q bands in long arm of Y chromosomes; are they identical?
Constitutional chromosomal breakage
Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man
Effects of inhibitors of DNA, RNA and protein synthesis on frequencies and types of premature chromosome condensation from X-ray induced micronuclei
Partial trisomy 20p derived from a t(18;20) translocation
Expansion and contraction of hypomelanotic areas in human piebaldism
Comparative investigations on cytogenetic effects of X-irradiation on the germinal epithelium of male mice and Chinese hamsters
Quantitative and qualitative study of acrocentric associations in 109 normal subjects
Staining of the spindle apparatus in human lymphocyte and fibroblast cultures
Production of C and T bands in human mitotic chromosomes after heat treatment
A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9
Trisomy 4p due to a paternal t(4p-;16p+) translocation
Fusion of two apparently intact human X chromosomes
Fabry's disease: Heterozygote detection by hair root analysis
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
Possible intrachromosomal duplication in a case of trisomy 9p
The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism
Isolation of mammalian cell mutants deficient in glucose 6-phosphate dehydrogenase by means of a replica-plating technique
The human leukocyte test system
Evidence for an association between AB0 blood group and goitre
Prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus
Formal genetics of Fanconi's anemia
A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation
Normal meiosis in two 47,XYY men
Familial occurrence of gonadal tumors in XY females with breast development
Chromosome preparations from microplate cultures of man, dog, rat, and mouse
Translocation de l'Y sur un autosome et hypogonadisme
Human complementary component C?3
A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
The human leukocyte test system
Evidence that chromosome band 22q12 is concerned with cell proliferation in chronic myeloid leukaemia
Heterogeneity of Dyggve-Melchior-Clausen dwarfism
Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins
HMC syndrome in identical twins
A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies ?A new syndrome
Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy
Tertiary trisomy, 47,XX,+14q-, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24)
Spermatogenesis in an infertile XYY man
Familial C/D translocation t(9;13)(9p23;13q21) in a male associated with recurrent abortion
Follow-up till age 3?4 of unselected children with sex chromosome abnormalities
Fine structure of 33 258 H-treated chromosomes
Bf polymorphism: Study of a new variant (F 0.55)
Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods
Polymorphism of properdin factor B in South African Negroid, Indian and Colored populations Negroid, Indian and Colored populations
Center for barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter? p22::p22?qter)
Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund
47,+(9q-) in unrelated three children with plasma growth hormon deficiency
Banding pattern observed in human chromosomes by the modified BSG technique
CT banding of human chromosomes
Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique
A female infant with monosomy 21
Structural variability of human chromosome 9 in relation to its evolution
Q-banding of human chromosomes after BUdR and BCdR treatment
Serum immunoglobulin M, G, and A concentration levels in Turner's syndrome compared with normal women and men
Biochemical characteristics of collagen produced by long term cultivated amniotic fluid cells
Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids
The trisomy 18 syndrome with an E/G translocation
9p trisomy identified by Giemsa-11
Partial trisomy 4q syndrome: Case report and review
Nucleolus organizer and satellite association in a variant D-group chromosome
A new, high frequency variant of α1-antitrypsin
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34
Persistence of high intestinal lactase activity (lactose tolerance) in Afghanistan
ESD polymorphism in Norway
Eine weitere Chromosomenanalyse bei k�nstlichen Aborten
Leukocyte peroxidase in Spielmeyer-Vogt's disease
A case of trisomy for the short arm of chromosome No. 9(+9(p))
Down's syndrome with XYY additional aneuploidy
A case of true hermaphroditism with 45X/46XY mosaicism
Ring Y chromosome: 45,X/46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia
Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases
Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22
Assignment of a gene for human mitochondrial isocitrate dehydrogenase (ICD-M, EC 1. 1. 1. 41) to chromosome 15
Biochemical characterization of the human carbonic anhydrase variant CA ih Hiroshima
Late-replicating ring X-chromosomes identified by r-banding after BrdU pulse
Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population
Premature chromosome condensation in irradiated man
Familial 13p+ chromosome with mental retardation and dysmorphic features in two children
Deletion of the short arms of chromosome 20
A 46, XY, del(18)(pter?pl 100:) Cebocephalic child from a 46, XX, t(12;18)(18pter?18pl 100 :: 12qter?12pter) normal parent
Maternal cell contamination
Paracentric inversion in man
Investigations on the frequency of chromosome aberrations in bone marrow cells of Chinese hamsters after simultaneous application of caffeine and cyclophosphamide
Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family
The occurrence of Hb E Saskatoon in Scotland
Ring chromosome 15 in child with a minor dysmorphism of phenotype
Generalized dermal perifollicular fibromas with polyps of the colon
Standardization in human cytogenetics
On the origin of the supernumerary chromosome in autosomal trisomies ? with special reference to Down's syndrome
rDNA and acrocentric chromosomes in man
Regional mapping of human chromosome 10: Assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24 � qter
Elimination of spontaneous and chemically induced chromosome aberrations in mice during early embryogenesis
The cytogenetics of 90 patients with idiopathic mental retardation/malformation syndromes and of 90 normal subjects
Partial trisomy 4q due to familial 2/4 translocation
The red blood cell Esterase D polymorphism in Europe and Asia
CT banding of human chromosomes
Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD kirovograd and G6PD zhitomir Ashkenazi
Parental origin of a ring 13 chromosome in a female with multiple anomalies
Brachydactylia with symphalangism, probably autosomal recessive