| Announcements |
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| Replication asynchrony between homologs 15q11.2: Cytogenetic evidence for genomic imprinting |
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| Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families |
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| A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21 |
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| Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR |
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✓ |
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European part of the USSR |
| Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene |
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| Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions |
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| The frequencies of Hbs S and C in Georgia and South Carolina |
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| Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome? |
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| X-linked Charcot-Marie-Tooth disease |
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| Genetic heterogeneity of propionic acidemia: Analysis of 15 Japanese patients |
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| Genetic epidemiology of Down's syndrome in Shetland |
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| The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments |
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| Localisation of the myotonic dystrophy locus to 19q13.2?19q13.3 and its relationship to twelve polymorphic loci on 19q |
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| Population frequency of the arylsulphatase A pseudo-deficiency allele |
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| Genetic polymorphism of inter-alpha-trypsin-inhibitor (ITI): Formal genetic and linkage analyses |
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| HindIII/Eco RI RFLP of the human immunoglobulin IGHE gene detected with a C? probe in the French and Tunisian populations |
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French and Tunisian populations |
| The size of small polydisperse circular DNA (spcDNA) in angiofibroma-derived cell cultures from patients with tuberous sclerosis (TSC) differs from that in fibroblasts |
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| Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2?q26.3 |
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| A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency |
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| Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen |
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| Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes |
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| Uridine enhances expression of the fragile X chromosome in human lymphocytes |
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| Polymorphisms in the human X-linked pyruvate dehydrogenase E1? gene |
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| Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark |
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| Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26 |
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| Linkage analysis of neurofibromatosis type 1 |
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| Mapping of the ribophorin II (RPN II) gene to human chromosome 20q12?q13.1 by in-situ hybridization |
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| Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation |
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| Chromosomal assignment of a large tRNA gene cluster (tRNALeu, tRNAGln, tRNALys, tRNAArg, tRNAGly) to 17p13.1 |
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| The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13 |
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| A new ? chain variant hemoglobin A2-Corfu or ?2?2 116 Arg?Cys (G18), detected by ?-globin gene analysis in a Greek family |
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Greek family |
| Reply to letter by E.M. B�hler |
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| Deletion mapping of interval 6 of the human Y chromosome |
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| Triple trisomy in a 17-week-old fetus |
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| A third allele of the PstI RFLP at DXS94 |
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| Letters to the Editor |
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| Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease |
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| Chromosome arrangements in human fibroblasts at mitosis |
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| Genotypic analysis of families with lactate dehydrogenase A(M) deficiency by selective DNA amplification |
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| Chromosomal instability in breast cancer patients |
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| Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome |
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| Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth |
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| Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene |
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| Comparative mapping of ZFY in the hominoid apes |
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| A test of the production line hypothesis of mammalian oogenesis |
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| A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus |
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| Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations |
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| The human cardiac troponin I locus: assignment to chromosome 19p13.2?19q13.2 |
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| Differential methylation at the 5? and the 3? CCGG sites flanking the X chromosomal hypervariable DXS255 locus |
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| Regional mapping of 22 microclones around the adenomatous polyposis coli (APC) locus on chromosome 5q |
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| Trisomy 16q23?qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique |
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| Chromosome mapping of the human cytidine-5?-triphosphate synthetase (CTPS) gene to band 1p34.1?p34.3 by fluorescence in situ hybridization |
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| A rare insertional translocation of proximal segment with heterochromatic region of 1q into 7p in monozygotic twins and spontaneous abortions |
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| C-anaphase versus premature centromere division |
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| Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 |
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| Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the ?Lebanese? allele at the low density lipoprotein receptor gene locus and by an additional independent major factor |
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| Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy |
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| Paracentric inversion of chromosome 15(q15q24): description of three families |
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| A sterile male with 45,X0 and a Y;22 translocation |
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| An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy |
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| Constitutional extra chromosomal element in a family with Wilms' tumor |
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| Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain |
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| Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15 |
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| Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus |
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| Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages |
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| Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene |
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| Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus |
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| Identification of common variant alleles of the human guanosine monophosphate reductase gene |
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| A 5′-truncated c-myc gene variant not associated with a risk of cancer |
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| Glutathione S-transferase class ? in French alcoholic cirrhotic patients |
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✓ |
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French |
| DNA-fingerprinting: a short note on mutation rates |
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| Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques |
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| Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family |
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✓ |
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Sicilian |
| Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1) |
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| Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28 |
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| CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series |
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| The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy |
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| Identification of twelve new RFLP-markers on chromosome 22q11-qter |
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| Normal variants of human mitochondrial DNA and translation products: the building of a reference data base |
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| An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema |
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| A specific point mutation in the mitochondrial genome of Caucasians with MELAS |
✓ |
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| Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS |
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| Diagnosis of genetic disease using recombinant DNA. Third edition |
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| Polymorphisms of the gene encoding cholesterol ester transfer protein and serum lipoprotein levels in subjects with and without coronary heart disease |
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| “Spontaneous” FRA16B is a hot spot for sister chromatid exchanges |
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| Nucleotide sequence evidence of the unicentric origin of the ?C mutation in Africa |
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| The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI |
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| Chromosomal localization of the human D3 dopamine receptor gene |
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| Regional assignment of the human cell cycle control gene CDC2 to chromosome 10q21 by in situ hybridization |
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| Localisation of the gene coding for the haemopoietic stem cell antigen CD34 to chromosome 1q32 |
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| An unusual variant detected using a ?-globin probe for an individual with the sickle cell trait |
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| Segregation of lymphocyte low molecular weight DNA and antinuclear antibodies in a family with systemic lupus erythematosus in first cousins |
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| Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion |
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| Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia |
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| Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques |
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| Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease |
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| The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q |
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| Cysteine in the triple helical domain of the pro?2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta |
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| The human kininogen gene (KNG) mapped to chromosome 3q26-qter by analysis of somatic cell hybrids using the polymerase chain reaction |
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| The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II ? Hunter syndrome) |
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| DNA diagnosis of hydatidiform mole using the polymerase chain reaction |
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| The length polymorphism in the 5? flanking region of the human ?-globin gene with denaturing gradient gel electrophoresis in a Japanese population |
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Japanese population |
| Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family |
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| Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family |
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| Multipoint linkage analysis in X-linked Alport syndrome |
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| Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type |
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| Human NK-2 receptor gene maps to chromosome region 10q11?21 |
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| The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 |
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| Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28 |
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| Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D |
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| Editorial help |
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| Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications |
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| Studies on the phylogenetic conservation of the SRY gene |
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| Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome |
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| Synthesis of glycosaminoglycans in fibroblasts from abortuses with trisomy, triploidy, and from children with Down's syndrome |
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| Analysis of synaptonemal complexes in a heterozygous human male carrier of a reciprocal translocation involving an acrocentric chromosome: heterosynapsis without previous homosynapsis |
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| Methods for analysis of multiple cystic fibrosis mutations |
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| The gene for the type II (p75) tumor necrosis factor receptor (TNF-RII) is localized on band 1p36.2?p36.3 |
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| Prospects for homologous recombination in human gene therapy |
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| Induction of distamycin A-inducible rare fragile sites and increased sister chromatid exchanges at the fragile site |
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| Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei |
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| High prevalence of aspartylglycosaminuria among school-age children in eastern Finland |
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| Molecular characterization of a patient with del(1)(q23–q25) |
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| The murine Rb(6.16) translocation: evidence for sperm selection and a modulating effect of aging |
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| Cytogenetic investigations in three cell types of a Saudi family with ataxia telangiectasia |
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Saudi |
| Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization |
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| Dominant mutations in familial lethal and severe osteogenesis imperfecta |
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| Sister chromatid exchanges are preferentially induced at expressed and nonexpressed common fragile sites |
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| Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females |
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| Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia |
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| Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype |
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| Inherited ring chromosomes: an analysis of published cases |
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| Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation |
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| Three unique base pair changes in a family with Gaucher disease |
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| T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection |
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Amish |
| X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female |
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| Increased band sharing in DNA fingerprints of an inbred human population |
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| Choroideremia: linkage analysis with physically mapped close DNA-markers |
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| Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene |
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| Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families |
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| Human platelet basic protein/connective tissue activating peptide-III maps in a gene cluster on chromosome 4q12?q13 along with other genes of the ?-thromboglobulin superfamily |
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| New distal marker closely linked to the fragile X locus |
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| Recurrent mutation at aa 792 in the LDL receptor gene in a French patient |
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| Human polymorphic probe pE1.8 detects SacI polymorphism in the ribonucleotide reductase M1 subunit gene |
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| Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs |
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| Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. |
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| Ovarian dysgenesis in individuals with chromosomal abnormalities |
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| Polymorphism in a ferritin H gene from chromosome 6p |
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| Cytogenetic and molecular characterization of a newly established neuroblastoma cell line LS |
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| Isolation and regional localization of a large collection (2,000) of single-copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes |
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| DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels |
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| Two human genes encoding zinc finger proteins, ZNF12 (KOX 3) and ZNF 26 (KOX 20), map to chromosomes 7p22-p21 and 12q24.33, respectively |
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| The linkage of Hb Valletta [?2?287(F3)Thr?Pro] and Hb F-Malta-I [?2 G?2117(G19)His?Arg] in the Maltese population |
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Maltese population |
| A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival |
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| Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region |
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| Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations |
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| Effects of the apolipoprotein(a) size polymorphism on the lipoprotein(a) concentration in 7 ethnic groups |
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| A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples |
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| Correction of the published sequence for the human proteolipid protein gene |
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| Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences |
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| Assignment of the gene for human tenascin to the region q32?q34 of chromosome 9 |
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| New RFLPs of the immunoglobulin switch alpha region in mesangial IgA glomerulonephritis |
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| A tetranucleotide repeat polymorphism in the cystic fibrosis gene |
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| Announcements |
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| Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles |
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| Announcements |
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| Acatalasemia |
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| Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei |
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| Chromosome assignment of four RAS-related RAB genes |
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| Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus |
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✓ |
|
Western Europe and North Africa |
| Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia |
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| A diallelic RFLP of the CD3-epsilon chain of the clonotypic T-lymphocyte receptor is not associated with certain autoimmune diseases |
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| A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli: implications for presymptomatic diagnosis |
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| Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population |
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| Some Mexican glucose-6-phosphate dehydrogenase variants revisited |
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| A molecular genetic approach to the identification of isochromosomes of chromosome 21 |
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| Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man |
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| Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23 |
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| Identification of a cystic fibros is mutation: deletion of isoleucine506 |
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| A novel human multi-locus DNA family detected by pJU78 (DF31) |
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| Localization of the human Rh blood group gene structure to chromosome region 1p34.3–1p36.1 by in situ hybridization |
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| No evidence for sequences structurally related to the RB1 gene in the human genome |
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| Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
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| Incidence of Menkes disease |
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| Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
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| Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita |
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| Homozygous condition for a BrdU-requiring fragile site on chromosome 12 |
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| Physical mapping of two Xp markers DXS16 and DXS143 |
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| De novo complex chromosomal rearrangement in a woman with recurrent spontaneous abortion and one healthy daughter |
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| Probe KK5.33 (D5S85) improves indirect genotype analysis in familial adenomatous polyposis |
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| Announcements |
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| No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families |
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| Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism |
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| Frequency and distribution of aneuploidy in human female gametes |
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| No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers |
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| Allelic somatic mutations may explain vascular twin nevi |
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| Apolipoprotein A-IV protein polymorphism: frequency and effects on lipids, lipoproteins, and apolipoproteins among Mexican-Americans in Starr County, Texas |
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| Frequency of the cystic fibrosis mutation ?F508 in Poland |
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| Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency |
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| The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)] |
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| Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women |
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| Announcements |
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| Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2 |
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| Reply to letter by M. Krawczak and B. Bockel |
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| Acrosin, the peculiar sperm-specific serine protease |
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| The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization |
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| 3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations |
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✓ |
|
Italian and Spanish populations |
| Cytogenetic studies in leprosy patients before and after chemotherapy |
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| The ITI system in South Koreans and iranians analysed by an improved classification procedure |
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| Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification |
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| Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk |
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| Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity |
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| Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia |
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| Information content of the Centre d'Etude du Polymorphisme Humain (CEPH) family structures for linkage studies |
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| Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy |
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| A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia |
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|
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|
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| Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene |
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|
|
| Analysis of 14 cystic fibrosis mutations in five South European populations |
|
|
|
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|
| A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1 |
|
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|
|
| Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site |
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| A new definition of genetic distance |
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| Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3?-hydroxysteroid dehydrogenase/?5-?4 isomerase at the human HSD?3 locus (1p |
|
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|
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| Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome |
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|
|
| Proving paternity of children with deceased fathers |
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| X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus |
|
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|
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| Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome |
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| A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene |
|
|
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|
|
| Three dimensional reconstruction of human pachytene spermatocyte nuclei of a 17;21 reciprocal translocation carrier: study of XY-autosome relationships |
|
|
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|
|
| Sister chromatid exchange (SCE) frequencies differ between directly prepared cytotrophoblasts and cultured mesenchymal core cells |
|
|
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|
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|
|
| A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus |
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|
|
| SstII polymorphic sites in the promoter region of the human cystatin C gene |
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|
|
| MAC (morphology antibody chromosomes) technique for in situ chromosome preparations |
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|
|
| Multiple sutural synostosis and congenital cataracts |
|
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|
|
| Frequency of the cystic fibrosis mutation ?F508 in Algeria |
|
|
|
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|
|
| Relative order determination of four Yp cosmids on metaphase and interphase chromosomes by two-color competitive in situ hybridization |
|
|
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|
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|
|
| Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 |
|
|
|
|
|
|
|
|
|
| High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers |
|
|
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|
|
|
|
|
| Genomic structure and expression of human guanosine monophosphate reductase |
|
|
|
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|
|
|
| Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas |
|
|
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|
✓ |
|
Afrikaner |
| Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies |
|
|
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|
|
| Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy |
|
|
|
|
|
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|
|
| Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region |
|
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|
|
| Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region |
|
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|
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|
|
| Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21 |
|
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|
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|
|
|
|
| Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis |
|
|
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|
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|
|
| The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations |
|
|
|
|
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|
|
| The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria |
|
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|
✓ |
|
Turkish |
| An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 |
|
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|
|
| Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat |
|
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|
|
|
| Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus |
|
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|
|
|
|
|
|
|
| Mechanisms of insertional mutagenesis in human genes causing genetic disease |
|
|
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|
|
| Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man |
|
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|
|
| Fragile X expression and X inactivation |
|
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|
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|
|
| Orosomucoid (ORM 1) subtyping and formal genetics |
|
|
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|
|
| A polymorphic region defined by pCN2 (the 3? nontranslated region of N-ras) maps to chromosome 9cen-p12 |
|
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|
|
|
|
| Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies in human sperm |
|
|
|
|
|
|
|
|
|
| Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13 |
|
|
|
|
|
|
|
|
|
| Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene |
|
|
|
|
|
|
|
|
|
| Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan |
|
|
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|
|
|
|
|
|
| DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene |
|
|
|
|
|
|
|
|
|
| Status of the search for a major genetic locus for affective disorder in the Old Order Amish |
|
|
|
|
|
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|
|
| Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria |
|
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|
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|
|
|
|
| Labeling of the centromeric region on human chromosome 8 by in situ hybridization |
|
|
|
|
|
|
|
|
|
| Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe |
|
|
|
|
|
|
|
|
|
| Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13 |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies on MIC gas-exposed persons in Bhopal |
|
|
|
|
|
|
|
|
|
| Identification of mutations in two families with sporadic hemophilia A |
|
|
|
|
|
|
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|
|
| The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene |
|
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|
|
|
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|
|
| Association between Rh and plasma iron binding (transferrin) |
|
|
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|
|
|
|
|
|
| Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica |
|
|
|
|
|
|
|
|
|
| Isodicentric X chromosome in a patient with Turner syndrome ? implications for localization of the X-inactivation center |
|
|
|
|
|
|
|
|
|
| The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts |
|
|
|
|
|
|
|
|
|
| Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster |
|
|
|
|
|
|
|
|
|
| Molecular analysis of cystic fibrosis in the Hungarian population |
|
|
|
|
|
|
|
|
|
| The ?F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| PAH 399 GTA(Val)?GTT(Val), a new silent mutation found in the Chinese |
|
|
|
|
|
|
|
|
|
| A pooling strategy for heterozygote screening of the ?F508 cystic fibrosis mutation |
|
|
|
|
|
|
|
|
|
| Consanguinity sans reproche |
|
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|
|
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|
|
|
|
| Type III hyperlipoproteinemia in a patient with idiopathic hemochromatosis |
|
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|
|
|
|
|
|
|
| An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy |
|
|
|
|
|
|
|
|
|
| Identification of a break-prone structure in the 9q1 heterochromatic region |
|
|
|
|
|
|
|
|
|
| Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis |
|
|
|
|
|
|
|
|
|
| Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers |
|
|
|
|
|
|
|
|
|
| TaqI reveals two independent alphoid polymorphisms on human chromosomes 13 and 21 |
|
|
|
|
|
|
|
|
|
| Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-clichloro-platinum (II) in Fanconi anemia lymphocyte cultures |
|
|
|
|
|
|
|
|
|
| Assignment of the human CD9 gene to chromosome 12 (region P13) by use of human specific DNA probes |
|
|
|
|
|
|
|
|
|
| Molecular analysis of PKU haplotypes in the population of southern Poland |
|
|
|
|
|
|
|
|
|
| Hemoglobin Stanleyville II (?78 Asn?Lys) is associated with a 3.7-kb ?-globin gene deletion |
|
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|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria |
|
|
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|
|
|
|
|
|
| Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity) |
|
|
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|
|
|
|
|
|
| Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency |
|
|
|
|
|
|
|
|
|
| Molecular analysis of chromosome region 11p13 in patients with Drash syndrome |
|
|
|
|
|
|
|
|
|
| The human placental protein 14 (PP14) gene is localized on chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| DNA polymorphisms associated with a new ?1-antitrypsin PI Q0 variant (PI Q0riedenburg) |
|
|
|
|
|
|
|
|
|
| Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele |
|
|
|
|
|
|
|
|
|
| Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene |
|
|
|
|
|
|
|
|
|
| High incidence of acute infantile spinal atrophy in Hungary |
|
|
|
|
|
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|
|
| Erratum |
|
|
|
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|
|
|
| Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas |
|
|
|
|
|
|
|
|
|
| Polymorphism of the T-cell receptor gamma variable and constant region genes in a Chinese population |
|
|
|
|
|
|
✓ |
|
Chinese population |
| Chromosomal in situ suppression hybridization after Giemsa banding |
|
|
|
|
|
|
|
|
|
| Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome |
|
|
|
|
|
|
|
|
|
| A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms |
|
|
|
|
|
|
|
|
|
| Changes of common fragile sites on chromosomes according to the menstrual cycle |
|
|
|
|
|
|
|
|
|
| Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the ?critical segment? towards the telomere |
|
|
|
|
|
|
|
|
|
| Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4) |
|
|
|
|
|
|
|
|
|
| The human aldose reductase gene maps to chromosome region 7q35 |
|
|
|
|
|
|
|
|
|
| Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9 |
|
|
|
|
|
|
|
|
|
| A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome |
|
|
|
|
|
|
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|
|
| High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives |
|
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| Non-radioactive in situ hybridization pattern of the M13 minisatellite sequences on human metaphase chromosomes |
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| Karyotype pecularities of human colorectal adenocarcinomas |
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| Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies |
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| The gene for MEN 2A is tightly linked to the centromere of chromosome 10 |
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