| Alpha-1-antitrypsin types in five Chinese national minorities |
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| Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25 |
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| Low alpha-fetoprotein and serum albumin levels in Morbus Down may point to a common regulatory mechanism |
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| Evidence for chromosome instability in vivo in bloom syndrome: Increased numbers of micronuclei in exfoliated cells |
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| Differential sensitivity of Fanconi anaemia lymphocytes to the clastogenic action of cis-diamminedichloroplatinum (II) and trans-diamminedichloroplatinum (II) |
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| Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome |
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| Orosomucoid (ORM) typing by print lectinofixation: a new technique for isoelectric focusing. Two common alleles in Japan |
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| Two cases of X/autosome translocation in females with incontinentia pigmenti |
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| Hereditary triose phosphate isomerase deficiency: seven new homozygous cases |
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| Down syndrome: increased frequency of maternal meiosis I nondisjunction during the transitional stages of the ovulatory seasons |
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| The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase) |
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| Restriction fragment length polymorphism detected by human salivary amylase cDNA |
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| A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13 |
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| Acquired cystic kidney disease —a possible pitfall in genetic counseling |
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| Partial trisomy 2q+ as a result of a balanced translocation (1;2) (q43;q33) |
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| Sister chromatid exchanges in human fibroblasts characterized by monosomy X |
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| Intraindividual Y-chromosome heteromorphism |
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| Announcements |
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| Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization |
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| Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis |
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| Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein |
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| Placental alkaline phosphatase types and subtypes determined by agarose gel electrophoresis and separator isoelectric focusing |
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| DNA-polymorphic patterns linked to the β-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups |
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✓ |
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German; other ethnic groups |
| Allelic variation adjacent to the human insulin and apolipoprotein C-II genes in different ethnic groups |
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| Gene order on the short arm of human chromosome 11: regional assignment of the LDH A gene distal to catalase in two translocations |
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| Familial paracentric inversion in(2)(q31q36) |
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| Erratum |
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| The human T cell antigen Leu-2 (T8) is encoded on chromosome 2 |
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| The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: Possible linkage between HLA and the neuraminidase deficiency gene |
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| Another family with a silent allele of properdin factor B polymorphism (BF*QO) |
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| A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13 |
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| Chromosome study of five cancers of the prostate |
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| Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy |
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| Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency |
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| Assignment of human pepsinogen A locus to the q12-pter region of chromosome 11 |
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| GM1 gangliosidosis: Clinical and laboratory findings in eight families |
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| A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma |
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| The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific |
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| αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family |
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✓ |
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Sicilian |
| Cytogenetic studies using various clastogens in two patients with Werner syndrome and control individuals |
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| Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis |
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| Polymorphism of human C2 detected by immunoblotting |
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| Reciprocal balanced translocation of the long arm of chromosome 8 to the short arm of chromosome 7 in a woman with two spontaneous abortions |
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| Human chromosome hot points |
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| A new balanced (1;22)(p22;q13) translocation in a sterile male |
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| ?-Aminolevulinate dehydratase: Induced expression and regional assignment of the human gene to chromosome 9q13�qter |
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| Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting |
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| Does X-Y pairing during male meiosis protect the paired region of the X chromosome from subsequent X-inactivation? |
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| De novo deletion 1p(34?pter) |
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| Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele |
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✓ |
|
Ashkenazi Jews |
| Simultaneous production of R-bands and either replication patterns or sister chromatid differentiation |
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| Gc types in one Indian group and one Mestizo Mexican group |
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| Chromosome studies in 952 infertile males with a sperm count below 10 million/ml |
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| Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy |
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| Evidence for a ?new? allele at the phosphoglycolate phosphatase locus |
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| Source of single X in XO turner syndrome: a comment |
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| Announcement |
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| An estimate of unique DNA sequence heterozygosity in the human genome |
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| Unusual sialilation of three different rare genetic variants of serum DBP: Gc 1A17, Gc 1A16, and Gc 1A11 |
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| Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples |
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| A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance |
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| High resolution cytogenetic evaluation of couples with recurring fetal wastage |
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| The genetics of tritan disturbances |
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| A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus |
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| First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe |
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| Detection of cystic fibrosis heterozygotes using a modified loading with bromide |
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| Inversion of chromosome 2 (p11p13): Frequency and implications for genetic counselling |
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| Transferrin variants in Tuscany (Italy). Evidence for two ?new? Tf alleles |
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| A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia |
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| Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19 |
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| 46,XY gonadal dysgenesis: Isoncogenesis related to H-Y phenotype or breast development? |
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| Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome |
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| Genetic linkage heterogeneity in the fragile X syndrome |
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| Inversion (14)(q12qter) or (q11.2q32.3): The most frequently acquired rearrangement in lymphocytes |
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| Origin of human triosephosphate isomerase isozymes: Further evidence for the single structural locus hypothesis with Japanese variants |
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| An EcoRI restriction fragment length polymorphism (RFLP) in the human c-erb A locus |
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| A new MspI restriction fragment length polymorphism in the hemophilia B locus |
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| G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants |
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| A cytogenetic study of a population of retarded females with special reference to the fragile(X) syndrome |
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| Chromosomal R-banding with a monoclonal antidouble-stranded DNA antibody |
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| DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome |
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| DNA polymorphisms flanking the apo A-1 and insulin genes and type III hyperlipidaemia |
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| Genetic complementation analysis in somatic cell hybrids of ?-L-iduronidase deficient cells |
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| A new ?1-antitrypsin allele PI*Poki: Isoelectric focusing with immobilized pH gradients as a tool for identification of PI variants |
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| Localization of the thyroglobulin gene by in situ hybridization to human chromosomes |
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| Linkage and recombination between fragile X-linked mental retardation and the factor IX gene |
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| Maternal serum alpha-fetoprotein screening for neural tube defects |
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| Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor |
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| Gc subtypes identified by isoelectric focusing in Baboons (Papio hamadryas) |
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| Molecular evidence of triplication in the haptoglobin Johnson variant gene |
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| Immunofixation for C2 typing: C2 allotypes in Spaniards in relation to HLA, Bf and C4 |
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|
✓ |
|
Spaniards |
| Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy |
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| Maple syrup urine disease: Two different forms within a single family |
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| Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations |
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| Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues |
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| Improved technique for the expression of fragile-X in cultured amniotic fluid cells |
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| New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine |
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| A new syndrome in the group of euhidrotic ectodermal dysplasia |
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| H-Y transplantation antigen in human XO females |
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| Clinical and cytogenetic studies of the Prader-Willi syndrome: Evidence of phenotype-karyotype correlation |
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| Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes |
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| The hereditary transmission of high glutathione transferase activity towards trans-stilbene oxide in human mononuclear leukocytes |
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| Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite |
|
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|
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| Alpha-1-antitrypsin: Evidence for a fifth PI M subtype and a new deficiency allele PI*ZAugsburg |
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|
|
| Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3 |
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|
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| Selective interactions among Rh, ABO, and sex ratio of newborns |
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| Scalp defect associated with postaxial polydactyly: Confirmation of a distinct entity with autosomal dominant inheritance |
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|
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| The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10 |
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| Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis |
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| DNA polymorphism and molecular pathology of the human globin gene clusters |
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| Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA |
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| The prophase stages in human foetal oocytes studied by light and electron microscopy |
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|
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| High resolution R banding in amniotic fluid cells using the BrdU-Hoechst 33258-Giemsa (RBG) technique |
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|
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| Prenatal selection and fetal development disturbances occurring in carriers of G6PD deficiency |
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|
|
| Announcement |
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|
|
| Replication of X chromosomes in complete moles |
|
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|
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| Phenotype and gene frequencies of acid phosphatase (s-AcP) in the human parotid saliva |
|
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|
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| Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9) |
|
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|
|
| Genetic polymorphism of human factor I (C3b inactivator) |
|
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|
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| Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia |
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|
|
| Increased birth weight in psoriasis ?Another expression of a ?thrifty genotype?? |
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|
|
| Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis |
|
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|
✓ |
|
black |
| Characterization of mitoses with sister chromatid differentiation (SCD) and consequences for the analysis of proliferation kinetics and sister chromatid exchanges in asynchronously growing cells |
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| Determination of ?2HS-glycoprotein phenotypes by isoelectric focusing and immunoblotting: polymorphic occurrence of HSGA *5 in Okinawa |
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|
|
| Linkage between the loci for mitochondrial malic enzyme (ME2) and coagulation factor XIIIA subunit (F13A) |
|
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|
|
| Homozygosity for the variant ?-L-fucosidase trait and mucolipidosis III |
|
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|
|
| X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq |
|
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|
|
| DNA polymorphism and molecular pathology of the human globin gene clusters |
|
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|
|
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|
|
| Individual interphase chromosome domains revealed by in situ hybridization |
|
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|
|
| Telomeric association in a malignant fibrous histiocytoma |
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|
|
| Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease? |
|
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|
|
| High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy |
|
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|
|
| Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation |
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|
| Etiological study on isolated esophageal atresia |
|
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|
|
| Problems in prenatal diagnosis of the ichthyosis congenita group |
|
|
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|
|
| A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility |
|
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|
|
|
|
|
| Chromosomes of human sperm: Variability among normal individuals |
|
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|
|
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|
|
| De novo deletion 1p(34?pter) |
|
|
|
|
|
|
|
|
|
| Differences between cystic fibrosis and normal cells in the degree of satellite association |
|
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|
|
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|
|
|
| Human ferritin light chain gene sequences mapped to several sorted chromosomes |
|
|
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|
|
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|
|
| Two new polymorphic markers in the human pro?2(1) collagen gene |
|
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|
|
|
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|
|
| Chromosomal banding patterns in human large bowel adenomas |
|
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|
|
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|
|
| Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers |
|
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|
|
|
|
|
|
| A new restriction fragment length polymorphism in the haptoglobin gene region |
|
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|
|
|
|
|
|
|
| Sibs of probands with neural tube defects ?A study in the Federal Republic of Germany |
|
|
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|
|
|
|
|
|
| Height of females with pure gonadal dysgenesis and normal male or female karyotype |
|
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|
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|
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|
|
| Deletion of band 13q21 is compatible with normal phenotype |
|
|
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|
|
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|
|
| A translocation 46,XY,t(1;2)(q32;q21) in a male with reproductive failure |
|
|
|
|
|
|
|
|
|
| Evolutionary conservation of fragile sites induced by 5-azacytidine and 5-azadeoxycytidine in man, gorilla, and chimpanzee |
|
|
|
|
|
|
|
|
|
| A new hereditary single band variant of the Gc system |
|
|
|
|
|
|
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|
|
| Mitotic chiasmata, gene density, and oncogenes |
|
|
|
|
|
|
|
|
|
| Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome territories |
|
|
|
|
|
|
|
|
|
| Dosage compensation in mammals: Why does a gene on the inactive X yield less product than one on the active X? |
|
|
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|
|
|
|
|
|
| New data on the in situ position of the inactive X chromosome in the interphase nucleus of human fibroblasts |
|
|
|
|
|
|
|
|
|
| The human gene encoding insulin-like growth factor I is located on chromosome 12 |
|
|
|
|
|
|
|
|
|
| Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: Immunologic characterization of the non-catalytic enzyme |
|
|
|
|
|
|
|
|
|
| The ?1 antitrypsin variant PI*WFINNEYTOWN in a family of Caucasian origin |
✓ |
|
|
|
|
|
|
|
|
| Partial trisomy 22?an old case reexamined |
|
|
|
|
|
|
|
|
|
| Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe |
|
|
|
|
|
|
|
|
|
| Manifestation of the fragile site Xq27 in fibroblasts |
|
|
|
|
|
|
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|
|
| Fragile sites and structural rearrangements in cancer |
|
|
|
|
|
|
|
|
|
| In situ nick translation of metaphase chromosomes with biotin-labeled d-UTP |
|
|
|
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|
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|
|
| A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence |
|
|
|
|
|
|
|
|
|
| The human thyroglobulin gene: A polymorphic marker localized distal to C-MYC on chromosome 8 band q24 |
|
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|
|
|
|
| AB0 blood group incompatibility and inbreeding effects: Evidence for an interaction |
|
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| Intercellular NOR-Ag-variability in man. II. Search for determining factors, clonal analysis |
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| Chromosomal localization and preliminary characterization of the human gene encoding insulin-like growth factor II |
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| Association between a genetic trait and a marker: Discrimination between epistasis and gametic disequilibrium |
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| Clotting factors VII and X as useful markers of terminal deletion of chromosome 13 |
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| Further segregation analysis of the fragile X syndrome with special reference to transmitting males |
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| Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19 |
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| Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture |
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| Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization |
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| Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia |
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| Detection of a restriction site polymorphism within the human ?-globin gene complex |
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| Supernumerary microchromosomes identified as inverted duplications of chromosome 15: A report of three cases |
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| Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts |
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| Human chromosome variation with two Robertsonian translocations |
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| Two subtypes of BfF by isoelectrofocusing: Differential linkage to other HLA markers |
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| Geographical variability of alpha-1-antitrypsin alleles in China: A study on six Chinese populations |
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| No difference in dermatoglyphics of fingers and palms between phenylketonuria patients and controls |
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| Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1) |
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| Mapping parathyroid hormone, ?-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes |
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| On the significance of true trisomy 20 mosaicism in amniotic fluid culture |
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| Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site |
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| Progressive muscular dystrophy (Duchenne): Biochemical studies by flow-cytometry |
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| DNA polymorphism in the 5? flanking region of the human carbonic anhydrase II gene on chromosome 8 |
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| The chromosomal localization of human β-galactosidase revisited: a locus for β-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22 |
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| Polymorphism of Ag-stained nucleolus organizer regions in lymphocytes of patients with ovarian or breast adenocarcinoma |
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| Assignment of human ferritin genes to chromosomes 11 and 19q13.3→19qter |
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| ?�- and ?�- Thalassemia in a Thai family: unusually mild homozygous ?�-thalassemia without ?-globin gene deletion |
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| A polymalformed baby born to karyotypically normal parents |
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| Localization of the ?-globin gene to 11p15 by in situ hybridization: Utilization of chromosome 11 rearrangements |
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| Cytogenetic analyses utilizing various clastogens in two sibs with Fanconi anemia, their relatives, and control individuals |
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| Forty four probands with an additional ?marker? chromosome |
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| Maternal metaphases on direct chromosome preparation of first trimester decidua |
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| Electrophoretic variants of blood proteins in Japanese. IV. Prevalence and enzymologic characteristics of glucose-6-phosphate dehydrogenase variants in Hiroshima and Nagasaki |
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| High frequency of triplicated α-globin loci and absence or low frequency of α thalassemia in Polynesian Samoans |
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✓ |
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Polynesian Samoans |
| The interaction of hemoglobin O Arab with Hb S and β+ thalassemia among Israeli Arabs |
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| Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy |
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| Molecular analysis of gene deletion in aniridia-Wilms tumor association |
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| Subtyping of haptoglobin — Presentation of a new method |
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| Quantitative variation in cystic fibrosis-associated proteins in cystic fibrosis patients, carriers, and controls |
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| Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase |
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| Letter to the editors |
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| Erratum: Assignment of human ferritin genes to chromosomes 11 and 19q13.3→19qter |
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| Lyonization and the lines of Blaschko |
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| Genetic analysis of carbamyl phosphate synthetase I deficiency |
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| Genetic polymorphism of complement component C8 |
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| Two-dimensional gel studies of genetic variation in the plasma proteins of Amerindians and Japanese |
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✓ |
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Amerindians; Japanese |
| Mitomycin C-induced mosaicism in C-band regions of human chromosomes 1, 9, 16, and Y |
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| Linkage studies of X-linked mental retardation: High frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome) |
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| Frequency of consanguineous marriages among parents and grandparents of Down patients |
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| The second human calcitonin/CGRP gene is located on chromosome 11 |
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| Spontaneous 6-thioguanine-resistant lymphocytes in Fanconi anemia patients and their heterozygous parents |
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| Gc (vitamin D binding protein) subtypes in rheumatoid arthritis |
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| A familial X-autosome translocation with the breakpoint in the ?critical region? |
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| Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs |
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| Announcement |
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| Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families |
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| Androgenetic origin of African complete hydatidiform moles demonstrated by HLA markers |
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✓ |
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African |
| Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX |
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| Heterogeneity of the ?-globin gene defects in German ?-thalassemia affected families |
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| Localization of genes encoding apolipoproteins CI, CII, and E to the p13?cen region of human chromosome 19 |
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| Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization |
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| Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis |
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| Analysis of crossing-over in a family with translocation 9;10 involving a chromosome 9 with a pericentric inversion |
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| Erratum |
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| Direct assignment of orosomucoid to human chromosome 9 and α2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids |
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| On the mechanism of differential Giemsa staining of bromodeoxyuridine-substituted chromosomes |
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| The ordered arrangement of chromosomes in the Chinese hamster spermatocyte nucleus |
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| Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance |
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| Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome No. 1 by means of a new fragile site at 1p31 |
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| Bovine superoxide dismutase in Fanconi anaemia. Therapeutic trial in two patients |
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| Folic acid sensitive fragile sites are not limited to the human karyotype. Demonstration of nonrandom gaps and breaks in the Persian vole Ellobius lutescens Th. inducible by methotrexate, fluorodeoxyu |
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| Unequal mitotic sister chromatid exchange and different length of Y chromosomes |
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| A new chromosome abnormality in acute nonlymphocytic leukemia |
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| Psychological issues in genetic counselling |
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| Human lens γ-crystallin sequences are located in the p12-qter region of chromosome 2 |
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| Mapping genetic systems by the supratype method |
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| DNA semi-conservative synthesis in normal and Fanconi anemia fibroblasts following treatment with 8-methoxypsoralen and near ultraviolet light or with X-rays |
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| Trisomy 21 Down syndrome |
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| The apolipoprotein CII gene: Subchromosomal localisation and linkage to the myotonic dystrophy locus |
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| Variant of ataxia-telangiectasia with low-level radiosensitivity |
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| 9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata |
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| Complex translocation in habitual abortion |
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| High-resolution studies in patients with aniridia-Wilms tumor association |
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| X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome |
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| Genetic drift of marker Y chromosome del(Y)(q12) in Khanty from the lower Ob river |
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| Genes for the ?H? subunit of human ferritin are present on a number of human chromosomes |
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| A biochemical and immunological approach to the identification of H-Y antigentic proteins secreted from Daudi cells |
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| The frequency of the ? chain variant A?T in different populations, and its use in evaluating ? gene expression in association with thalassemia |
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| Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19 |
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| Frequency and types of deletional α+ in Northern Sardinia |
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| A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15 |
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| N-Acetylneuraminic acid storage disease |
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| A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21 |
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| Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies |
|
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✓ |
|
Japanese families |
| An unusual translocation 46,XX,t(14;17)(q33.2;p11.2) in a woman with recurrent spontaneous abortions |
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| Further segregation analysis of the fragile X syndrome with special reference to transmitting males |
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