| Premature chromosome condensation in the bone marrow of Chinese hamsters after whole body irradiation with Co60 γ raysin vivo |
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| Partial monosomy 13 as the result of a balanced translocation 3/13 pat |
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| Inversion péricentrique inv (2) (p11 q13) dans des familles non apparentées |
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| Premature chromosome condensation in a case of Fanconi's anemia |
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| Hypersarcosinemia with craniostenosis-syndactylism syndrome |
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|
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| Population genetics of red cell glyoxalase I (E.C.: 4.4.1.5) |
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| Analyse du caryotype dePan paniscus. Comparaison avec les autresPongidae etl'Homme |
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|
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| G-6-PD Poznań, variant with severe enzyme deficiency |
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| De novo (11;13) translocation |
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| Uneinheitlicher Phänotyp bei Partialtrisomie 4q |
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| Serum and tissue proteins in tuberous sclerosis |
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| A mechanism of X chromosome aneuploidy in lymphocytes of aging women |
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| Confirmation of the linkage HL-A/PGM3 |
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| Serum haptoglobin type and liver cirrhosis |
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|
|
| On the mutation rate of neurofibromatosis |
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| Trisomy 9q?. A variant of the 9p trisomy syndrome |
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|
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| Familial true hermaphrodism in three siblings |
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| Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes |
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| Chromosome mosaicism in a population sample |
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| Human cytogenetic registries |
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| Obtention simultan�e de plusieurs marquages chromosomiques sur les m�mes pr�parations, apr�s traitement par le BrdU |
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| Familial correlations in the judgment of numerousness |
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| Stability of X chromosomal inactivation in human somatic cells transformed by SV-40 |
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| The Bf locus in the HLA region of chromosome 6: Linkage and association studies |
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| Climate associated variations in the human serum albumin level |
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| Haemoglobin synthesis in 28 obligatory cases for ?-thalassemia traits |
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| Cystinuric heterozygotes and cystine-loading |
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| Trisomy 9p due to paternal translocation, t(9;13)(q13;q12) |
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| Cytological and cytogenetical studies on brain tumors |
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|
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| The human leukocyte test system |
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| Partial trisomy 10p |
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| Statistical evaluation of a new method to detect carriers of phenylketonuria |
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| Extra-hepatic storage of copper |
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| Histological analysis of spontaneous abortions with trisomy 2: First description of an embryo |
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| A subtelocentric chromosome 9 in a dysplastic 18-year-old boy with dissociated mental development |
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| Chromosomal damage in chronic alcohol users |
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| The rate of sister chromatid exchanges parallel to spontaneous chromosome breakage in Fanconi's anemia and to trenimon-induced aberrations in human lymphocytes and fibroblasts |
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|
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| Red cell uridine monophosphate kinase polymorphism in Japanese |
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|
✓ |
|
Japanese |
| Cytogenetic effects of cyclophosphamide on mouse spermatogonia |
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| Variation in trypsin banding at different stages of contraction in human chromosomes and the definition, by measurement, of the ?average? karyotype |
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|
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| Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world |
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|
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| Sister chromatid exchanges and chromatid interchanges in Bloom's syndrome |
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|
|
| A comment to the paper: Dermatoglyphic analysis as a diagnostic tool in wilson disease? |
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|
|
| DNA replication patterns of human C group chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique |
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| A technique for in situ Karyotyping of primary amniotic fluid cell cultures |
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|
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| Contribution to the genetics of serum ?-lipoproteins in man |
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| Morphological variability of the human chromosomes in two Indian populations ? Rajputs and Punjabis |
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| Power of assaying inbreeding through sampling of phenotypes and mating types |
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| Types of enzymatic overdosing in trisomy 21: Erythrocytic superoxide dismutase-AJ and phosphoglucomutase |
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| Prenatal diagnosis of trisomy 9 |
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| Relative DNA content of human euchromatin and heterochromatin after G, C and giemsa 11 banding |
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| The human complement after trypsin pretreatment as compared to the Paris standard |
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|
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| Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining |
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| Partial trisomy 9q: A new syndrome |
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| Red cell esterase-D polymorphism in the population of Tuscany |
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|
|
| Missing Y chromosome in juvenile chronic myelogenous leukemia |
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|
|
| Studies on the polymorphism of C3, Tf and Bg in Down's syndrome and other diseases |
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| Fragmentation of purified mammalian DNA molecules by ultrasound below human therapeutic doses |
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|
| Structural rearrangements associated with the Ph1 chromosome in chronic granulocytic leukaemia |
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|
|
| Identification of interspecific translocation chromosomes in human-Chinese hamster hybrid cells |
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|
|
| Chromosome studies in 500 induced abortions |
|
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|
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| Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state |
|
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|
|
| A male infant with monosomy 21 |
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|
|
| Interchromosomal DNA-containing fibres in human cells |
|
|
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|
|
| The G-banded prophase chromosomes of man |
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|
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| Linkage group HL-A-MLC-Bf (properdin factor B) |
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|
| Lipoproteins in lecithin-cholesterol-acyltransferase (LCAT)*-deficiency |
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|
| Centronucle�re Myopathie mit autosomal dominantem Erbgang |
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|
|
| Enzyme polymorphisms and haemoglobin variants in Greeks |
|
|
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|
|
| Three cases of minor chromosomal aberrations discovered by prenatal chromosome determination |
|
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|
|
| Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia |
|
|
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|
|
| Hereditary defect of the sacrum |
|
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|
|
| Red blood cell acid phosphatase: Ambiguity in phenotype and activity estimations in the proof of the ?single allele? states |
|
|
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|
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|
|
| Etude m�iotique et mitotique dans un cas de translocation t(5;Y) |
|
|
|
|
|
|
|
|
|
| G-6PD ?ankara?. A new G-6PD variant with deficiency found in a Turkish family |
|
|
|
|
|
|
✓ |
|
Turkish family |
| Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma |
|
|
|
|
|
|
|
|
|
| Deletion of long arms of chromosome 13 |
|
|
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|
|
|
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|
|
| Ring chromosome 15:r(15). Identification by R banding |
|
|
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|
|
|
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|
|
| Balanced familial translocation t(5;19) (q12;p or q11) with phenotypical abnormalities in a girl |
|
|
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|
|
|
|
|
| Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13) |
|
|
|
|
|
|
|
|
|
| Chromatin structure in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Implications of somatic recombination and sister chromatid exchange in Bloom's syndrome and cells treated with mitomycin C |
|
|
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|
|
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|
|
| Besteht ein Zusammenhang zwischen der Wirbelzahl auf den Fingerbeeren und der Stellung in der Geschwisterfolge? |
|
|
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|
|
| Demonstration of a factor in the serum of homozygotes and heterozygotes for cystic fibrosis by a non-biological technique |
|
|
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|
|
|
|
| Cytogenetische Untersuchung des peripheren Blutes beim famili�ren Neuroblastom |
|
|
|
|
|
|
|
|
|
| The differential distribution of X-ray induced chromosome lesions in trypsin-banded preparations from human subjects |
|
|
|
|
|
|
|
|
|
| Dynamic aspects of trypsin-Giemsa banding |
|
|
|
|
|
|
|
|
|
| Lactate dehydrogenase: Inhibition of subunit a by the sulfhydryl reagent AgNO3 |
|
|
|
|
|
|
|
|
|
| Evidence for linkage between the loci of PGM3 and MNSs |
|
|
|
|
|
|
|
|
|
| Red cell glyoxalase I (E.C.: 4.4.1.5): Formal genetics and linkage relations |
|
|
|
|
|
|
|
|
|
| Genetic variation of red cell nucleoside phosphorylase in primates |
|
|
|
|
|
|
|
|
|
| Red-cell uridine-5-monophosphate kinase (UMPK) |
|
|
|
|
|
|
|
|
|
| Multiple forms of enolase (E.C.4.2.1.11): Their distribution in human tissues |
|
|
|
|
|
|
|
|
|
| Toxicity of antibiotics on cultured human skin fibroblasts |
|
|
|
|
|
|
|
|
|
| Ring 17 chromosome detected by amniocentesis |
|
|
|
|
|
|
|
|
|
| Human karyotype polymorphism |
|
|
|
|
|
|
|
|
|
| Translocation X sur autosome et replication tardive |
|
|
|
|
|
|
|
|
|
| Sur quatre nouveaux cas de translocation du chromosome X chez l'homme |
|
|
|
|
|
|
|
|
|
| Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man |
|
|
|
|
|
|
|
|
|
| Excretion of urinary testosterone in Klinefelter's syndrome |
|
|
|
|
|
|
|
|
|
| Variants of normal human ?2-macroglobulin. immunoelectrophoresis and enzyme-binding effect |
|
|
|
|
|
|
|
|
|
| Nephrogenic diabetes insipidus in an Australian aboriginal kindred |
|
|
|
|
|
|
✓ |
|
Australian aboriginal |
| Gm(1) and Gm(2) immunglobulin allotypes in patients with malignant melanoma |
|
|
|
|
|
|
|
|
|
| G-6-PD polymorphism and racial admixture in the Cuban population |
|
|
|
|
|
|
|
|
|
| Certain patterns of karyotype evolution in chronic myelogeneous leukaemia |
|
|
|
|
|
|
|
|
|
| Human triploid cell strain. Phenotype on cellular level |
|
|
|
|
|
|
|
|
|
| A new type of inversion of a human Y chromosome |
|
|
|
|
|
|
|
|
|
| Does alpha-1-antitrypsin PI null phenotype exist? |
|
|
|
|
|
|
|
|
|
| Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT) |
|
|
|
|
|
|
|
|
|
| The human leukocyte test system |
|
|
|
|
|
|
|
|
|
| Hexokinase isozymes in human neoplastic and fetal tissues: The existence of hexokinase II in malignant tumors and in placenta |
|
|
|
|
|
|
|
|
|
| La trisomie 4p |
|
|
|
|
|
|
|
|
|
| Marker chromosome 14q+ in two non-Burkitt lymphomas |
|
|
|
|
|
|
|
|
|
| The metaphase chromosome ultrastructure |
|
|
|
|
|
|
|
|
|
| An abortus with a normal/trisomy 16 mosaicism: instability of trisomic cells in vitro |
|
|
|
|
|
|
|
|
|
| Late DNA replication of X chromosomes in female and pseudofemale cells of Microtus agrestis |
|
|
|
|
|
|
|
|
|
| Oxidase (donor: oxygen oxidoreductase) activity by peroxidase and alpha2-macroglobulin interaction |
|
|
|
|
|
|
|
|
|
| Predominance of the haemoglobin E gene in a mongoloid population in Assam (India) |
|
|
|
|
|
|
✓ |
|
mongoloid |
| Y-chromatin positive cells in the smear preparations of the gonad from an XX male |
|
|
|
|
|
|
|
|
|
| Cat Eye-Syndrom |
|
|
|
|
|
|
|
|
|
| Satellite DNA III and alkaline Giemsa staining |
|
|
|
|
|
|
|
|
|
| G banding in cytogenetic study of hemoblastoses |
|
|
|
|
|
|
|
|
|
| Meiotic chromosome study in a human female translocation heterozygote |
|
|
|
|
|
|
|
|
|
| A 46,XX,10q+ chromosome consitution in a girl. Partial long arm duplication or insertional translocation? |
|
|
|
|
|
|
|
|
|
| Derivative chromosomal structures from a ring chromosome 4 |
|
|
|
|
|
|
|
|
|
| Evidence for two active X chromosomes in a human XXY triploid |
|
|
|
|
|
|
|
|
|
| Sex chromatin and cytogenetic survey of 10417 adult males and 357 children institutionalized in Belgian institutions for mentally retarded patients |
|
|
|
|
|
|
|
|
|
| The diagnosis of the early infantile form of hypophosphatasia tarda |
|
|
|
|
|
|
|
|
|
| Fluorometrical detection of thymine base differences in complementary strands of satellite DNA in human metaphase chromosomes |
|
|
|
|
|
|
|
|
|
| Pyruvate kinase isozyme patterns of human neoplastic, fetal and adult tissues |
|
|
|
|
|
|
|
|
|
| The effect of the ionic strength on G-bands |
|
|
|
|
|
|
|
|
|
| Esterase D polymorphism: High-voltage agarose-gel electrophoresis and distribution of phenotypes in different European populations |
|
|
|
|
✓ |
|
|
|
European populations |
| Galactosaemia: Estimated live birth incidence in New Zealand |
|
|
|
|
|
|
|
|
|
| Dermatoglyphic analysis as a diagnostic tool in Wilson disease? |
|
|
|
|
|
|
|
|
|
| Relative position of trypsin banded homologous chromosomes in human (?) metaphase figures |
|
|
|
|
|
|
|
|
|
| Three chromosome abnormalities (trisomy 21,XXY, and a de novo reciprocal translocation) in a child with 48,XXY,+21,t(6;10)(p22-24;p12) |
|
|
|
|
|
|
|
|
|
| International registry of Abnormal Karyotypes |
|
|
|
|
|
|
|
|
|
| Phenylketonuria in a patient with cystinuria |
|
|
|
|
|
|
|
|
|
| Trisomie partielle 11q et translocation familiale 11?22 |
|
|
|
|
|
|
|
|
|
| Parakeratosis Mibelli and skin carcinoma |
|
|
|
|
|
|
|
|
|
| Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies |
|
|
|
|
|
|
|
|
|
| High amniotic fluid alpha-1-fetoprotein in a case of fetal sacrococcygeal teratoma |
|
|
|
|
|
|
|
|
|
| Chromosome anomalies in mouse oocytes after irradiation |
|
|
|
|
|
|
|
|
|
| Translocation t(7p+; 13q-) associated with recurrent abortion |
|
|
|
|
|
|
|
|
|
| Twelve families with Hb 0 Arab in the Burgas district of Bulgaria observations on sixteen examples of Hb 0 ?� thalassaemia |
|
|
|
|
|
|
|
|
|
| Changes in the mitotic cycle induced by ?-solanine |
|
|
|
|
|
|
|
|
|
| Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts |
|
|
|
|
|
|
|
|
|
| Transspecific variability of red cell galactose 1-phosphate uridyl transferase in primates |
|
|
|
|
|
|
|
|
|
| Red cell glutamic-pyruvic transaminase gene frequencies in the region of the Po delta (Ferrara, Northern Italy) |
|
|
|
|
|
|
|
|
|
| Zur Differenzierung der Varianten 5-1 und 6-1 im Adenosindesaminase-Polymorphismus. Nachweis des neuen Phänotyps ADA 5-2 in der ČSSR |
|
|
|
|
|
|
|
|
|
| The effect of a thyrostatic drug on mitotic activity of human lymphocytes in vitro |
|
|
|
|
|
|
|
|
|
| The phocomelia-thrombocytopenia syndrome. A follow-up report |
|
|
|
|
|
|
|
|
|
| Antenatal sex determination in blood from pregnant women |
|
|
|
|
|
|
|
|
|
| Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes, haemoglobins, and serum proteins) |
|
|
|
|
|
|
|
|
|
| The human leukocyte test system |
|
|
|
|
|
|
|
|
|
| Distribution of hypothenar radial arches |
|
|
|
|
|
|
|
|
|
| Group-specific component in Macaca |
|
|
|
|
|
|
|
|
|
| Haemoglobin G Szuhu ?80 asn ? lys in an English family |
|
|
|
|
|
|
|
|
|
| Short arm deletion of chromosome 12 |
|
|
|
|
|
|
|
|
|
| Recurrent abortions and paternal balanced translocation t(1q-;13q+) |
|
|
|
|
|
|
|
|
|
| The Tetraphocomelia-cleft palate syndrome |
|
|
|
|
|
|
|
|
|
| Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions |
|
|
|
|
|
|
|
|
|
| A comment to the paper: A homozygote for a serum albumin variant of the slow type |
|
|
|
|
|
|
|
|
|
| Chromosome studies in patients with congenital malformations and mental retardation |
|
|
|
|
|
|
|
|
|
| Chromosomale Instabilit�t bei Homo- und Heterozygotie f�r mikrocephalia vera |
|
|
|
|
|
|
|
|
|
| Constitutive heterochromatin and micronucleoli in the human oocyte at the diplotene stage |
|
|
|
|
|
|
|
|
|
| A case of trisomy of the short arms of chromosome No. 4 with translocation t(4p 21p; 4q 21q) in the mother |
|
|
|
|
|
|
|
|
|
| Staining banded human chromosomes with Romanovsky dyes: Some practical consequences of the nature of the stain |
|
|
|
|
|
|
|
|
|
| Prevalence of Edwards' syndrome. Clustering and seasonal variation? |
|
|
|
|
|
|
|
|
|
| Structural aberrations of chromosome 18 |
|
|
|
|
|
|
|
|
|
| Structural X-chromosome abnormality in a female with gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| Transspecific variability of soluble glutamic-pyruvic transaminase in Primates |
|
|
|
|
|
|
|
|
|
| XXYY son of a triple-X mother |
|
|
|
|
|
|
|
|
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| A girl with karyotype 46,XX,del(7) (qter?p15:) |
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