Human Genetics - 1983

240 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
Tandem translocation t(14;14) in isolated and clonal cells in ataxia telangiectasia are different
Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations
The chromosome constitution of 1000 human spermatozoa
Familial fragility on chromosome 16 (Fra 16q22) enhanced by both interferon and distamycin A
Sister chromatid exchange in the centromere and centromeric area
Confirmation of a de novo duplication, dup(10) (q24?q26), by GOT1 gene dosage studies
Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes
Human chromosomal polymorphism. VI. Chromosomal Q polymorphism in turkmen of the Kara-Kum desert of Central Asia
Endomitosis: A reappraisal
Proliferative kinetics and mitomycin C-induced chromosome damage in Fanconi's anemia lymphocytes
New gene assignments in the rabbit (Oryctolagus cuniculus). Comparison with other species
Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5
Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2)
High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements
The association of a lymphoreticular malignancy with an 11q deletion: A coincidence or a cancer susceptibility?
A chemical and enzymological comparison of the common major human erythrocyte carbonic anhydrase II, its minor component, and a new genetic variant, CA IIMelbourne (237 Pro?His)
Virus-induced gene mutations of eukaryotic cells
Interactions between C-bands of chromosomes 1 and 9 in recurrent reproductive loss
Loss of high frequency of sister chromatid exchanges in Epstein-Barr virus-established lymphoblastoid cell lines from two patients with Bloom's syndrome
High resolution banding and the locus of the Xq fragile site
Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions
Sister chromatid exchanges and chromosome aberrations in fibroblasts from patients with retinoblastoma
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
The distribution and interaction of haemoglobin variants and the ? thalassaemia gene in Liberia
Homologous genes for X-linked chondrodysplasia punctata in man and mouse
Human and rodent transformed cells are more sensitive to in vitro induction of SCE by N-methyl-N′-nitro-N-nitrosoguanidine (MNNG) than normal cells
G-Bands without pretreatment of slides, in chemically defined conditions
Some genetic implications of isoelectric focusing of human red cell phosphoglucomutase (PGM1) and serum protein group specific component (Gc): genetic diversity in the populations of Himachal Pradesh,
Chromosomes from the epithelium of plucked human telogen hairs
Karyotype analysis of B-Lymphocytes transformed by Epstein-Barr virus in 21 patients with B cell chronic lymphocytic leukemia
?-Globin loci in homozygous ?-thalassemia intermedia
Is there a general relationship between estimated chromosome distances in interphase and location of genes with related functions?
Human chromosomal polymorphism. VII. The distribution of chromosomal Q-polymorphic bands in different human populations
Expression of the fragile site Xq27 in fibroblasts. I. Detection of Fra(X)(q27) in fibroblast clones from males with X-linked mental retardation
Selection against chromosomally abnormal sperm?Fact or fiction?
Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history
Description of six new Gc variants
The associations of HLA and other genetic markers with glomerulonephritis
Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies subsequent to ascertainment and a study of familial translocation carriers
A new allele of α1-antitrypsin: PI*NADELAIDE
Retinoblastoma and AB0 blood groups
Dicentric chromosome 13 and centromere inactivation
Clinical heterogeneity in the tricho-dento-osseous syndrome
Induction of structural chromosome aberrations and sister chromatid exchanges in human lymphocytes in vitro by aristolochic acid
Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome
Characterization of weak alleles at the DIA1 locus (Mustapha 1, Mustapha 2, and Mustapha 3) in the Algerian population
Population screening for glucose-6-phosphate dehydrogenase deficiency on the baleares
A new single band variant of the Gc subtypes determined by isoelectric focusing
Interstitial deletion in the ?critical region? of the long arm of the X chromosome in a mentally retarded boy and his normal mother
Genetic control of adrenergic receptors on human platelets. A twin study
Origin of chromosomal abnormalities: Evidence for delayed fertilization in meiotic nondisjunction
Retinoblastoma mutation rate in New Zealand and support for the two-hit model
Suggested assignment of peptidase S (PEPS) to 4q11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts
Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism
Low incidence of deletion of the esterase D locus in retinoblastoma patients
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23
Kinship mapping of multilocus systems
Glyoxalase I ?null? allele in a new family: Identification by abnormal segregation pattern and quantitative assay
Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid
A maximum likelihood estimate of the sex ratio of mutation rates in Haemophilia A
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?
Response of lymphocytes from Fanconi's anemia patients and their heterozygous relatives to 8-methoxy-psoralene in a cloning survival test system
The C4 ?-chain: Evidence for a genetically determined polymorphism
Properdin factor B (Bf) polymorphism: Subtyping of SS phenotypes
Prenatal diagnosis of osteogenesis imperfecta type II by real-time ultrasound
A case of 21q-syndrome with half normal SOD-1 activity
Terminal rearrangement of chromosomes 21 detected in amniotic fluid, resulting in a trisomy 21
Xeroderma pigmentosum (XP)
Is the interstitial delection of 13q in retinoblastoma patients not transmissible?
Cloning of genomic sequences from the human Y chromosome after purification by dual beam flow sorting
A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q
Assignment of the human coproporphyrinogen oxidase to chromosome 9
Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction
Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor
Decreased oxygen supply enhances growth in culture of human mid-trimester amniotic fluid cells
Use of repetitive DNA for diagnosis of chromosomal rearrangements
Prader-Willi syndrome and chromosome 15
Silver staining of nucleolus organizer regions during human spermatogenesis
Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome
Hb M Milwaukee: Direct detection of the ?-globin gene mutation in three generations of an afflicted family
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment
Red cell glyoxalase I polymorphism in Basque and Castilian populations
Reduced frequency of baseline sister chromatid exchanges in lymphocytes grown in antibiotics and serum-excluded culture medium
Genetic aspects of hemifacial microsomia
Two pericentric inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a male with absence of vas deferens
A deficiency mutant of the Gc system
Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single ?Gaucher gene?
Glutamate pyruvate transaminase null allele in seven new families
Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy
Protein A radio-assay of H-Y antigen on human leukocytes using mouse and rat antisera and monoclonal antibodies
Four new haplotypes observed in Algerian ?-thalassemia patients
Inherited pericentric inversion of human chromosome 5
Cytogenetic effects of chemotherapy with three combinations of anti-tubercular drugs involving isoniazid, thiacetazone, para-aminosalicylic acid and streptomycin on human lymphocytes: chromosome aberr
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13)
Pathogenetic mechanisms of hereditary diabetes mellitus
A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor
Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8
One gene, several messages. From multifunctional proteins to endogenous opiates
Eukaryotic DNA methylation
The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families
Genetic studies of an apoA-I lipoprotein variant
Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia
Prevalence of primary adult lactose malabsorption in Hungary
Reliability of the T�nnesen technique for the identification of Hunter carriers
De novo inversion 1, in amniotic, fluid cell cultures
Announcements
Chronic granulomatous disease, a heterogeneous syndrome
Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?
Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies
Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare TfC6 among Caucasians
Carrier detection and X-inactivation studies in the fragile X syndrome
Cytogenetic and biochemical investigations on fibroblast cultures and clones with one and two active X chromosomes of a 69,XXY triploidy
Chromosomal rearrangements with a common breakpoint at 6p23 in five cases of myeloid leukemia
Chromosome abnormalities in chronic myeloid leukemia in children
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian ?-globin gene
Persistence of high intestinal lactase activity in Pakistan
Expression of the fragile site Xq27 in fibroblasts
A deletion of heterochromatin only of the Y chromosome in an azoospermic male
A new type of familial chromosome translocation involving 3p and 6q in two unrelated families
Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B
Increased satellite association induced by 5? Bromodeoxyuridine treatment of Phytohemaglutinin-stimulated blood lymphocytes
Effect of oxygen tension on chromosomal aberrations in Fanconi anaemia
Interferon induction of (2??5?) oligoisoadenylate synthetase in diploid and trisomy 21 human fibroblasts: Relation to dosage of the interferon receptor gene (IRFC)
A dominantly inherited cytogenetic anomaly: A possible cell division mutant
Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity
Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?
Interstitial deletion for a region in the long arm of chromosome 16
The sequence of DNA replication in an iso-dicentric X-chromosome in peripheral blood lymphocytes and skin fibroblasts from the same individual
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
The genetic significance of accessory bisatellited marker chromosomes
Mating between two balanced translocation carriers in two unrelated families
The polymorphism of the vitamin D-binding protein (Gc); Isoelectric focusing in 3 M urea as additional method for identification of genetic variants
A genetic component of the variance of N-acetoxy-2-acetylaminofluorene-induced DNA damage in mononuclear leukocytes determined by a twin study
Meiotic studies in a series of 1100 infertile and sterile males
Chromosomal localization of a human myosin heavy-chain gene by in situ hybridization
Characterization of a human genomic DNA fragment coding for a myosin heavy chain
Fragile chromosome 16(q22) cause a balanced translocation at the same point
Inducible fragile site on chromosome 3
Reply to the letter of A. Markkanen, S. Knuutila, and A. de la Chapelle
Erratum
Genetic mapping: X chromosome
Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center
Frequency of fragile X chromosomes, fra(X), in lymphocytes in relation to blood storage time and culture techniques
Morquio-B disease, spondyloepiphyseal dysplasia associated with acid β-galactosidase deficiency. Report of three cases in one family
Investigation of PGM13, PGM16, and PGM17 variants by isoelectric focussing. Evidence for new subtypes of the PGM 1 3 and PGM 1 7 alleles
The metallothionein-I gene maps to mouse chromosome 8: implications for human Menkes' disease
Gene mapping of the gibbon. Its position in primate evolution
Chromosome aberrations induced in patients treated with chemotherapeutic drugs and irradiation for acute lymphatic leukemia
46,XX/46,XY chimerism in a phenotypically normal man
Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome
Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies
Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation
Unusual pericentric inversion inv(9)(p13q11) in a phenotypically normal family
Announcements
Nucleolus organizer regions and nucleoli
Complete or partial trisomy for the long arm of chromosome 1 in patients with various hematologic malignancies
Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome
Genetic linkage relations of the human plasminogen gene
Down's syndrome in the male. Reproductive pathology and meiotic studies
Reexamination of paternal age effect in Down's syndrome
Screening for fra(X)(q) in a population of mentally retarded males
Optimal use of restriction enzymes in the analysis of human DNA polymorphism
Cytologic evidence for three human X-chromosomal segments escaping inactivation
Heterochromatic regions on chromosomes 1, 9, 16, and Y in children with some disturbances occurring during embryo development
Incidence of chromosomal aberrations in patients under combined tuberculostatic chemotherapy
Familial Robertsonian translocation t13q/15q
Twenty-fourth annual short course in medical genetics and experimental mammalian genetics: August 1?12, 1983
Isoelectric focusing with immobilized pH gradients for the analysis of transferrin (Tf) subtypes and variants
In vitro expression of α-l-fucosidase activity polymorphism observed in plasma
Spontaneous abortion and subsequent Down syndrome livebirth
Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22
A new familial ?fragile site? on chromosome 16 (q23-24). Cytogenetic and clinical considerations
Assignment of the human parathyroid hormone gene to chromosome 11
A simple combined Ag-I/RHG technique for human metaphase chromosomes
Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning
Unilateral split hand in one of monozygotic twins
Endomitosis in human trophoblast?
Erratum
A list of cloned human DNA sequences
Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man
Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander
Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect
Methyl green is a substitute for distamycin A in the formation of distamycin A/DAPI C-bands
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms
On the identity of arylsulphatase C and steroid sulphatase
Regional localization of the human factor IX gene by molecular hybridization
Sex vesicle loss: A possible explanation of the excess of XO over XXY conceptuses in mice and men
G6PD Sendagi: A new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia
Announcements
X-linked dominant inherited diseases with lethality in hemizygous males
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural
Complementation studies between Fanconi's anemia cells with different DNA repair characteristics
New lethal omphalocele-cleft palate syndrome?
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes
Basic defect in the expression of adenosine deaminase in ADA -SCID disease
The effect of chromosome constitution on growth in culture of human spontaneous abortions
Types and subtypes of haptoglobin in the Chinese population Chinese population
Effect of temperature variation on sister chromatid exchange frequency in cultured human lymphocytes
?1 (Pi) types and subtypes in the Tyrolean population
Towards an understanding of the molecular mechanisms regulating gene expression during diploidization in phylogenetically polyploid lower vertebrates
Family study of congenital limb reduction abnormalities in Hungary 1975?1977
The genetic basis of non-disjunction: Increased incidence of hyperploidy in oocytes from F1 hybrid mice
A search for linkage in families with fragile sites
Reduced NOR association frequency in a 13/18 translocation chromosome. A family study
Genetic disorders presenting as ?schizophrenia?. Karl bonhoeffer's early view of the psychoses in the light of medical genetics
Incidence at birth of different types of limb reduction abnormalities in Hungary 1975?1977
Cytogenetic investigation of 103 patients with primary or secondary amenorrhea
Chromosome anomalies in 136 couples with a history of recurrent abortions
On the genetic length of the short arm of the human X chromosome
Acrosin and the acrosome in human spermatogenesis
Evidence that the Menkes locus maps on proximal Xp
Manifestation of the fragile site Xq27 in fibroblasts
Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement
A fragile X suppressor in the normal human blood?
Balanced structural changes involving the human X: Effect on sexual phenotype
The Hellinger distance as used for the representation of serological ABO distances among earlier human populations
A cell surface abnormality in Duchenne muscular dystrophy: Intercellular adhesiveness of skin fibroblasts from patients and carriers
NOR activity and satellite association patterns in a family carrying a doubly satellited marker
Human red cell butyrylesterase, and its homologies in thirteen other mammalian species
Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers?
Evidence for the presence of ?-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique
Two-dimensional electrophoresis of soluble and structure-bound proteins from cultured human fibroblasts and hair root cells: Qualitative and quantitative variation
Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy
Genetic control of platelet glutaminase: A twin study
Letters to the Editors
A simple method for R-banding combined with in situ hybridization
Announcements
Progress in visualization of eukaryotic gene transcription
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2
Cell culture studies on neurofibromatosis (von Recklinghausen). II. Occurrence of glial cells in primary cultures of peripheral neurofibromas
Meiotic behavior of alloxan-treated diabetic and nondiabetic T(1;13) 70H/+mice
Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing
Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese
Absence of correlation between Y chromosome heterochromatin and several anthropometric measurements in a Mexican population
Cytogenetic effects of acetaldehyde in lymphocytes of Germans and Japanese: SCE, clastogenic activity, and cell cycle delay Germans; Japanese
Segregation of a 22 ring chromosome in three generations
A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes
Coincidence between fragile site expression and interstitial deletion of chromosome 11 in a case of myelofibrosis