| Tandem translocation t(14;14) in isolated and clonal cells in ataxia telangiectasia are different |
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| Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations |
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| The chromosome constitution of 1000 human spermatozoa |
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| Familial fragility on chromosome 16 (Fra 16q22) enhanced by both interferon and distamycin A |
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| Sister chromatid exchange in the centromere and centromeric area |
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| Confirmation of a de novo duplication, dup(10) (q24?q26), by GOT1 gene dosage studies |
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| 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 |
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| Human chromosomal polymorphism. VI. Chromosomal Q polymorphism in turkmen of the Kara-Kum desert of Central Asia |
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| Endomitosis: A reappraisal |
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| Proliferative kinetics and mitomycin C-induced chromosome damage in Fanconi's anemia lymphocytes |
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| New gene assignments in the rabbit (Oryctolagus cuniculus). Comparison with other species |
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| Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5 |
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| Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2) |
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| High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements |
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| The association of a lymphoreticular malignancy with an 11q deletion: A coincidence or a cancer susceptibility? |
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| 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) |
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| Virus-induced gene mutations of eukaryotic cells |
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| Interactions between C-bands of chromosomes 1 and 9 in recurrent reproductive loss |
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| Loss of high frequency of sister chromatid exchanges in Epstein-Barr virus-established lymphoblastoid cell lines from two patients with Bloom's syndrome |
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| High resolution banding and the locus of the Xq fragile site |
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| Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions |
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| Sister chromatid exchanges and chromosome aberrations in fibroblasts from patients with retinoblastoma |
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| Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy |
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| The distribution and interaction of haemoglobin variants and the ? thalassaemia gene in Liberia |
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| Homologous genes for X-linked chondrodysplasia punctata in man and mouse |
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| 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 |
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| G-Bands without pretreatment of slides, in chemically defined conditions |
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| 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, |
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| Chromosomes from the epithelium of plucked human telogen hairs |
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| Karyotype analysis of B-Lymphocytes transformed by Epstein-Barr virus in 21 patients with B cell chronic lymphocytic leukemia |
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| ?-Globin loci in homozygous ?-thalassemia intermedia |
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| Is there a general relationship between estimated chromosome distances in interphase and location of genes with related functions? |
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| Human chromosomal polymorphism. VII. The distribution of chromosomal Q-polymorphic bands in different human populations |
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| Expression of the fragile site Xq27 in fibroblasts. I. Detection of Fra(X)(q27) in fibroblast clones from males with X-linked mental retardation |
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| Selection against chromosomally abnormal sperm?Fact or fiction? |
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| Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history |
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| Description of six new Gc variants |
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| The associations of HLA and other genetic markers with glomerulonephritis |
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| Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies subsequent to ascertainment and a study of familial translocation carriers |
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| A new allele of α1-antitrypsin: PI*NADELAIDE |
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| Retinoblastoma and AB0 blood groups |
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| Dicentric chromosome 13 and centromere inactivation |
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| Clinical heterogeneity in the tricho-dento-osseous syndrome |
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| Induction of structural chromosome aberrations and sister chromatid exchanges in human lymphocytes in vitro by aristolochic acid |
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| Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome |
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| Characterization of weak alleles at the DIA1 locus (Mustapha 1, Mustapha 2, and Mustapha 3) in the Algerian population |
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| Population screening for glucose-6-phosphate dehydrogenase deficiency on the baleares |
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| A new single band variant of the Gc subtypes determined by isoelectric focusing |
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| Interstitial deletion in the ?critical region? of the long arm of the X chromosome in a mentally retarded boy and his normal mother |
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| Genetic control of adrenergic receptors on human platelets. A twin study |
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| Origin of chromosomal abnormalities: Evidence for delayed fertilization in meiotic nondisjunction |
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| Retinoblastoma mutation rate in New Zealand and support for the two-hit model |
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| Suggested assignment of peptidase S (PEPS) to 4q11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts |
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| Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism |
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| Low incidence of deletion of the esterase D locus in retinoblastoma patients |
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| Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23 |
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| Kinship mapping of multilocus systems |
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| Glyoxalase I ?null? allele in a new family: Identification by abnormal segregation pattern and quantitative assay |
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| Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid |
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| A maximum likelihood estimate of the sex ratio of mutation rates in Haemophilia A |
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|
|
| Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? |
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| Response of lymphocytes from Fanconi's anemia patients and their heterozygous relatives to 8-methoxy-psoralene in a cloning survival test system |
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| The C4 ?-chain: Evidence for a genetically determined polymorphism |
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| Properdin factor B (Bf) polymorphism: Subtyping of SS phenotypes |
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| Prenatal diagnosis of osteogenesis imperfecta type II by real-time ultrasound |
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| A case of 21q-syndrome with half normal SOD-1 activity |
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| Terminal rearrangement of chromosomes 21 detected in amniotic fluid, resulting in a trisomy 21 |
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|
| Xeroderma pigmentosum (XP) |
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|
| Is the interstitial delection of 13q in retinoblastoma patients not transmissible? |
|
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|
| Cloning of genomic sequences from the human Y chromosome after purification by dual beam flow sorting |
|
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|
|
| A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q |
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|
|
| Assignment of the human coproporphyrinogen oxidase to chromosome 9 |
|
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|
|
| Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction |
|
|
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|
|
| Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor |
|
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|
|
| Decreased oxygen supply enhances growth in culture of human mid-trimester amniotic fluid cells |
|
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|
|
| Use of repetitive DNA for diagnosis of chromosomal rearrangements |
|
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|
|
| Prader-Willi syndrome and chromosome 15 |
|
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|
|
| Silver staining of nucleolus organizer regions during human spermatogenesis |
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|
| Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome |
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|
|
| Hb M Milwaukee: Direct detection of the ?-globin gene mutation in three generations of an afflicted family |
|
|
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|
|
| 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 |
|
|
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|
|
|
|
|
|
| Red cell glyoxalase I polymorphism in Basque and Castilian populations |
|
|
|
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|
|
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|
|
| Reduced frequency of baseline sister chromatid exchanges in lymphocytes grown in antibiotics and serum-excluded culture medium |
|
|
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|
|
|
|
|
|
| Genetic aspects of hemifacial microsomia |
|
|
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|
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|
| Two pericentric inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a male with absence of vas deferens |
|
|
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|
|
|
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|
|
| A deficiency mutant of the Gc system |
|
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|
|
|
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|
|
| Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single ?Gaucher gene? |
|
|
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|
|
|
|
|
| Glutamate pyruvate transaminase null allele in seven new families |
|
|
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|
|
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|
|
| Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy |
|
|
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|
|
|
|
|
| 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 |
|
|
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|
|
|
|
|
|
| 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 |
|
|
|
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|
|
|
|
|
| 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 |
|
|
|
|
|
|
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|
|
| 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 |
|
|
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|
|
|
|
|
|
| Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare TfC6 among Caucasians |
✓ |
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|
|
| 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 |
|
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|
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|
|
| Chromosome abnormalities in chronic myeloid leukemia in children |
|
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|
|
|
|
|
|
|
| DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian ?-globin gene |
|
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|
|
|
|
|
|
|
| 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 |
|
|
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|
|
|
|
| Increased satellite association induced by 5? Bromodeoxyuridine treatment of Phytohemaglutinin-stimulated blood lymphocytes |
|
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|
|
|
|
|
|
| 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 |
|
|
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|
|
|
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|
|
| 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 |
|
|
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|
|
|
|
|
| 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 |
|
|
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|
|
|
|
|
|
| Inducible fragile site on chromosome 3 |
|
|
|
|
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|
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|
|
| Reply to the letter of A. Markkanen, S. Knuutila, and A. de la Chapelle |
|
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|
| Erratum |
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|
|
| Genetic mapping: X chromosome |
|
|
|
|
|
|
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|
|
| 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 |
|
|
|
|
|
|
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|
|
| 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 |
|
|
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|
|
|
|
|
|
| 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 |
|
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| Cytologic evidence for three human X-chromosomal segments escaping inactivation |
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| Heterochromatic regions on chromosomes 1, 9, 16, and Y in children with some disturbances occurring during embryo development |
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| Incidence of chromosomal aberrations in patients under combined tuberculostatic chemotherapy |
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| Familial Robertsonian translocation t13q/15q |
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| Twenty-fourth annual short course in medical genetics and experimental mammalian genetics: August 1?12, 1983 |
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| Isoelectric focusing with immobilized pH gradients for the analysis of transferrin (Tf) subtypes and variants |
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| In vitro expression of α-l-fucosidase activity polymorphism observed in plasma |
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| Spontaneous abortion and subsequent Down syndrome livebirth |
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| Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22 |
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| A new familial ?fragile site? on chromosome 16 (q23-24). Cytogenetic and clinical considerations |
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| Assignment of the human parathyroid hormone gene to chromosome 11 |
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| A simple combined Ag-I/RHG technique for human metaphase chromosomes |
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| Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning |
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| Unilateral split hand in one of monozygotic twins |
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| Endomitosis in human trophoblast? |
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| Erratum |
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| A list of cloned human DNA sequences |
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| Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man |
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| Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander |
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| Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect |
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| Methyl green is a substitute for distamycin A in the formation of distamycin A/DAPI C-bands |
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| Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms |
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| On the identity of arylsulphatase C and steroid sulphatase |
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| Regional localization of the human factor IX gene by molecular hybridization |
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| Sex vesicle loss: A possible explanation of the excess of XO over XXY conceptuses in mice and men |
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| G6PD Sendagi: A new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia |
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| Announcements |
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| X-linked dominant inherited diseases with lethality in hemizygous males |
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| 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 |
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| Complementation studies between Fanconi's anemia cells with different DNA repair characteristics |
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| New lethal omphalocele-cleft palate syndrome? |
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| Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes |
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| Basic defect in the expression of adenosine deaminase in ADA -SCID disease |
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| The effect of chromosome constitution on growth in culture of human spontaneous abortions |
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| Types and subtypes of haptoglobin in the Chinese population |
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✓ |
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Chinese population |
| Effect of temperature variation on sister chromatid exchange frequency in cultured human lymphocytes |
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| ?1 (Pi) types and subtypes in the Tyrolean population |
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| Towards an understanding of the molecular mechanisms regulating gene expression during diploidization in phylogenetically polyploid lower vertebrates |
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| Family study of congenital limb reduction abnormalities in Hungary 1975?1977 |
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| The genetic basis of non-disjunction: Increased incidence of hyperploidy in oocytes from F1 hybrid mice |
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| A search for linkage in families with fragile sites |
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| Reduced NOR association frequency in a 13/18 translocation chromosome. A family study |
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| Genetic disorders presenting as ?schizophrenia?. Karl bonhoeffer's early view of the psychoses in the light of medical genetics |
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| Incidence at birth of different types of limb reduction abnormalities in Hungary 1975?1977 |
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| Cytogenetic investigation of 103 patients with primary or secondary amenorrhea |
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| Chromosome anomalies in 136 couples with a history of recurrent abortions |
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| On the genetic length of the short arm of the human X chromosome |
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| Acrosin and the acrosome in human spermatogenesis |
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| Evidence that the Menkes locus maps on proximal Xp |
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| Manifestation of the fragile site Xq27 in fibroblasts |
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| Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement |
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| A fragile X suppressor in the normal human blood? |
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| Balanced structural changes involving the human X: Effect on sexual phenotype |
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| The Hellinger distance as used for the representation of serological ABO distances among earlier human populations |
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| A cell surface abnormality in Duchenne muscular dystrophy: Intercellular adhesiveness of skin fibroblasts from patients and carriers |
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| NOR activity and satellite association patterns in a family carrying a doubly satellited marker |
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| Human red cell butyrylesterase, and its homologies in thirteen other mammalian species |
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| Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? |
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| Evidence for the presence of ?-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique |
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| Two-dimensional electrophoresis of soluble and structure-bound proteins from cultured human fibroblasts and hair root cells: Qualitative and quantitative variation |
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| Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy |
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| Genetic control of platelet glutaminase: A twin study |
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| Letters to the Editors |
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| A simple method for R-banding combined with in situ hybridization |
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| Announcements |
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| Progress in visualization of eukaryotic gene transcription |
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| A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2 |
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| Cell culture studies on neurofibromatosis (von Recklinghausen). II. Occurrence of glial cells in primary cultures of peripheral neurofibromas |
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| Meiotic behavior of alloxan-treated diabetic and nondiabetic T(1;13) 70H/+mice |
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| Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing |
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| Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese |
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| Absence of correlation between Y chromosome heterochromatin and several anthropometric measurements in a Mexican population |
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| Cytogenetic effects of acetaldehyde in lymphocytes of Germans and Japanese: SCE, clastogenic activity, and cell cycle delay |
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✓ |
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Germans; Japanese |
| Segregation of a 22 ring chromosome in three generations |
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| A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes |
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| Coincidence between fragile site expression and interstitial deletion of chromosome 11 in a case of myelofibrosis |
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