| Frequency of the major CF mutation in French CF patients |
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| Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology |
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| The mutation ΔF508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis |
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| Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients |
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| Genotyping of the Spanish cystic fibrosis population at the ΔF508 mutation site and RFLP linked loci |
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| The frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs |
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✓ |
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Jewish communities and Arabs |
| Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families |
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| Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR |
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| Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denmark |
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| ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital |
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| The cystic fibrosis ΔF508 mutation in the French population |
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| Gradient of distribution in Europe of the major CF mutation and of its associated haplotype |
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| Announcements |
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| The frequency of the CF ΔF508 deletion in CF chromosomes of different ethnic origin |
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| Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect |
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| The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population |
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| Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families |
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✓ |
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Spanish |
| Prevalence of the ΔF508 deletion of the cystic fibrosis gene in Belgian patients |
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| Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients |
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| Frequency of deletion 508 among Irish cystic fibrosis patients |
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| First analysis of the F508 deletion in cystic fibrosis patients from the GDR |
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| Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate |
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| Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population |
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| ΔF508 deletion in cystic fibrosis in Italian families |
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| Frequency of the ΔF508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without ΔF508 still in disequilibrium |
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| ΔF508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population |
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| The incidence of ΔF508 CF mutation, and associated haplotypes, in a sample of English CF families |
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| A 3′ splice site consensus sequence mutation in the cystic fibrosis gene |
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| Editorial |
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| Cystic fibrosis typing with DNA probes and screening for ΔF508 deletion in families from Southern France |
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| Association between XV2c/CS7/KM19/D9 haplotypes and the ΔF508 mutation A study of 57 Belgian families |
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| Mutation analysis at the cystic fibrosis locus in the British population |
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| Molecular data on cystic fibrosis in Bulgaria |
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| Molecular bases for cystic fibrosis in the Sardinian population |
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✓ |
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Sardinian population |
| The haplotype distribution of the ΔF508 mutation in cystic fibrosis families in Scotland |
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| Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families |
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| Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients |
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| The ΔF508 mutation in cystic fibrosis patients of Southern Italy |
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| Frequency of the cystic fibrosis ΔF508 mutation in a large sample of the French population |
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| Three point mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis |
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| Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells |
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| RFLP analysis of three different types of acute intermittent porphyria |
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| Epidemiological and linkage studies on Huntington's disease in Italy |
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| Chromosomal localization of the human protamine genes, PRM1 and PRM2, to 16p13.3 by in situ hybridization |
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| Heterogeneities in the distribution of (GACA)n simple repeats in the karyotypes of primates and mouse |
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| Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression |
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| Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4 |
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| Improved fragile site detection with trimethoprim |
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| Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome ? a virus-induced phenomenon? |
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| DNA polymorphism of the human complement component C7 gene in familial deficiencies |
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| The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis |
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| Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele |
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| Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD) |
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| Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw |
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| Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands |
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| Human αB-crystallin (CRYA2) gene mapped to chromosome 11q12-q23 |
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| Announcements |
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| Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics |
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| Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene |
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| Centromere splitting in bladder cancer |
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| Deletion mapping of 39 random isolated Y-chromosome DNA fragments |
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| Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage |
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| An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature |
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| Homologous Robertsonian translocation (21q21q) and abortions |
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| The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17 |
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| Louis-Bar syndrome: spontaneous and induced chromosomal aberrations in lymphocytes and micronuclei in lymphocytes, oral mucosa and hair root cells |
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| On-line sorting of human chromosomes by centromeric index, and identification of sorted populations by GTG-banding and fluorescent in situ hybridization |
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| Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature |
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| The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions |
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| Loss of heterozygosity of the L-myc oncogene in human breast tumors |
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| Fetal hemoglobin in normal adults and ?-thalassemia heterozygotes |
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| Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA |
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| Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus |
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| Direct estimation of serological H-Y antigen by flow cytometry |
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| Failure to document fetal cells in maternal circulation using the Selypes-Lorencz ?air-culture? cytogenetic technique |
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| An informative MspI polymorphism detected at the D21S16 locus |
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| Recombination and the fragile X |
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| Application of the polymerase chain reaction to the diagnosis of human genetic disease |
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| Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A ? mutation |
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| Paracentric inversion inv(11) (q21q23) in the Netherlands |
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| Constitutional deletions predisposing to retinoblastoma |
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| A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes |
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| Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3?qter) |
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| The analysis of hypervariable DNA profiles: problems associated with the objective determination of the probability of a match |
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| Inv(14) with distal breakpoint in 14q32.1 in three cases of T cell lymphoma |
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| Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome |
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| Albumin ? vitamin D-binding protein haplotypes in Asian-Pacific populations |
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✓ |
|
Asian-Pacific populations |
| Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia |
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| Molecular analyses of a Lesch-Nyhan syndrome mutation (hprt Montreal) by use of T-lymphocyte cultures |
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| DXS26 (HU16) is located in Xq21.1 |
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| RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene |
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| Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1 |
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| Mediterranean types of ?-thalassemia in the German population |
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✓ |
|
Mediterranean |
| A case of ring chromosome 15 accompanied by almost normal intelligence |
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| Unusual segregation of constitutional 11q;22q translocation may be explained by crossover in interchange segment, followed by 3?1 segregation at meiosis I |
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| Announcements |
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| Risk of nonocular cancer in first-degree relatives of retinoblastoma patients |
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| Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus |
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| An update on the frequency of mucopolysaccharide syndromes in British Columbia |
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| Neurofibromatosis-1: a maximum likelihood estimation of mutation rate |
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| A monoclonal antibody against human vitamin-D-binding protein for the analysis of genetic variation in the group-specific component system (Gc) |
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| A ?new? genetic polymorphism of a human serum protein: inter-alpha-trypsin-inhibitor |
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| Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study |
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| Meiotic and sperm chromosome studies in a reciprocal translocation t(1;2)(q32;q36) |
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| Dual genotype in cutaneous T-cell lymphomas and pseudolymphomas |
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| Extent and high frequency of a short conversion between the human A? and G? fetal globin genes |
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| Monocyte-derived neutrophil chemotactic factor (MDNCF/IL-8) resides in a gene cluster along with several other members of the platelet factor 4 gene superfamily |
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| No significant relationship between age and frequency of chromosome lesions in mentally retarded individuals with or without the fragile X syndrome |
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| Evolution of the Simiiformes and the phylogeny of human chromosomes |
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| Cell type-dependent difference in the distribution and frequency of excess thymidine-induced common fragile sites: T lymphocytes and skin fibroblasts |
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| Variation in the size of human apolipoprotein(a) is due to a hypervariable region in the gene |
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| Announcements |
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| Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families |
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|
✓ |
|
Japanese families |
| High-resolution dynamic and morphological G-bandings (GBG and GTG): a comparative study |
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| Differential bleomycin susceptibility in cultured lymphocytes of fragile X patients and normal individuals |
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| Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 |
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| Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies |
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| Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome |
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| Mapping the human gene coding for chromosomal protein HMG-17 |
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| The human PDGF receptor ?-subunit gene maps to chromosome 4 in close proximity to c-kit |
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| The genetics of primary torsion dystonia |
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| Cloning and sequence analysis of the human parathyroid hormone gene region |
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| Molecular cloning of human preproacrosin cDNA |
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| An association between ?1-antitrypsin phenotype and chronic liver disease |
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| Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel |
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| A probable sex difference in mutation rates in ornithine transcarbamylase deficiency |
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| Search for chromosomal variations among gas-exposed persons in Bhopal |
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| Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination |
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| Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form |
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| In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13 |
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| MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population |
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| Announcements |
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| Microdissection of banded human chromosomes |
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| Cocultivation of Fanconi anemia cells and of mouse lymphoma mutants leads to interspecies complementation of chromosomal hypersensitivity to DNA cross-linking agents |
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| Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases |
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| Localization of the human oncogene SPI1 on chromosome 11, region p11.22 |
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| Genetic polymorphisms of gene conversion within the duplicated human ?-globin loci |
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| Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification |
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| Partial correction of chromosome instability in Fanconi anemia by desferrioxamine |
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| Reply to letter by M. Poot and H. Hoehn |
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| Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy |
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| Inheritance of some electrophoretic phenotypes of human hair |
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| DNA sequence analysis of the KM19 locus linked to cystic fibrosis |
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| Pericentromeric structure of human X ?isochromosomes?: evidence for molecular heterogeneity |
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| Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease |
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|
| Premature centromere division of a translocation-carrier autosome |
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| Detection of ?-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens |
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|
✓ |
|
Chinese |
| Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency |
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| The distribution of the Hb Constant Spring gene in Southeast Asian populations |
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| Chromosomal damage in peripheral blood lymphocytes of patients treated for testicular cancer |
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| Molecular basis of ?-thalassemia in Turkey: detection of rare mutations by direct sequencing |
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|
| A normal male with an inherited deletion of one exon within the DMD gene |
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| A new electrophoretically distinguishable variant of human diaphorase locus 3(DIA3): DIA3 6-1 |
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| Construction and characterization of band-specific DNA libraries |
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| Cytogenetic characterization of ataxia telangiectasia (AT) heterozygotes using lymphoblastoid cell lines and chronic ?-irradiation |
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| Kinetochore formation in experimentally undercondensed chromosomes |
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| Unusual features in the inheritance of ataxia telangiectasia |
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| Partial trisomy of the distal segment of 14q |
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| Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation |
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| A new EcoRI polymorphism at the D21S13 locus |
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| Phocomelia and additional anomalies in two sisters |
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| Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes |
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| Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter |
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|
| Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism |
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|
| Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences |
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|
| Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2 |
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| Demonstration of chromosome replication by BrdU antibody technique and electron microscopy |
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| Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction |
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| Nucleolus organizer regions in human lymphocytes as studied with premature chromosome condensation |
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| Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients |
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| A panel of restriction fragment length polymorphisms for chromosomal band 11p13 |
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| Cell kinetic disturbances induced by treatment of human diploid fibroblasts with 5-azacytidine indicate a major role for DNA methylation in the regulation of the chromosome cycle |
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|
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| New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus |
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| Marker haplotype association with growth in German cystic fibrosis patients |
|
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| Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion |
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| Extensive sequence polymorphisms associated with chromosome 10 alpha satellite DNA and its close linkage to markers from the pericentromeric region |
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| An informative polymorphism detectable by polymerase chain reaction at the 3? end of the dystrophin gene |
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| Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1 |
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| Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization |
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| Human pepsinogen A (PGA): an informative gene complex located at 11q13 |
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| Growth retardation in Wolf-Hirschhorn syndrome |
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| Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage |
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| Announcement |
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| Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence |
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| Ha-ras-1 alleles in Norwegian lung cancer patients |
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| An HhaI polymorphism is present in factor IX genes of Asian subjects |
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| Detection by denaturing gradient gel electrophoresis of a new polymorphism in the apolipoprotein B gene |
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| Crossover in a Spanish cystic fibrosis family |
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| Disomic homozygosity and leukemia in Down's syndrome |
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| R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1) |
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|
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| Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction |
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| Localization of the gene for human proliferating nuclear antigen/cyclin by in situ hybridization |
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| Prenatal diagnosis of ?-thalassemia by polymerase chain reaction and dual restriction enzyme analysis |
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| Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy |
|
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| Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus |
|
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| Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues: defective hemidesmosomes in amnion epithelium of fetuses affected with epidermolysis bullosa Herl |
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| Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant |
|
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|
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| Cytogenetic analysis of 400 sperm from three translocation heterozygotes |
|
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| A new marker at DXS 115 useful for carrier detection in hemophilia A |
|
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| Neither age nor sex influence the expression of folate sensitive common fragile sites on human chromosomes |
|
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| A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1 |
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| Molecular characterization of β-thalassemia mutations in Egypt |
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| Gametic equilibrium between 24 polymorphic markers |
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| Painting of human chromosomes with probes generated from hybrid cell lines by PCR with Alu and L1 primers |
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| Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography |
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| Selective advantage of fra (X) heterozygotes |
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| Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district |
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| Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome |
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| Cloning of the breakpoints of a deletion associated with choroideremia |
|
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|
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| The human VAV proto-oncogene maps to chromosome region 19p12?19p13.2 |
|
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| The human corticosteroid binding globulin gene is located on chromosome 14q31?q32.1 near two other serine protease inhibitor genes |
|
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|
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| The Na+/H+ antiporter: a ?melt? polymorphism allows regional mapping to the short arm of chromosome 1 |
|
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|
|
| Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy |
|
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|
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| Maternal transmission of ring chromosome 21 |
|
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|
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| Somatic origin of inherited haemophilia A |
|
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|
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| Two mutations within the coding sequence of the phenylalanine hydroxylase gene |
|
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|
|
| Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain |
|
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|
|
| Paternal age and trisomy among spontaneous abortions |
|
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| Factual, statistical and logical issues in the search for a paternal age effect for Down syndrome |
|
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|
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| Viral integration, fragile sites, and proto-oncogenes in human neoplasia |
|
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|
|
| Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs |
|
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|
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| Localization of the human HF.10 finger gene on a chromosome region (3p21?22) frequently deleted in human cancers |
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|
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| Telomere association of chromosomes induced by aphidicolin in a normal individual |
|
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|
|
| Chromosomal in situ hybridization of a Hodgkin's disease-derived cell line (L540) using DNA probes for TCRA, TCRB, MET, and rRNA |
|
|
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|
|
|
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|
|
| Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency |
|
|
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|
|
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|
|
|
| In situ hybridization studies using a molecular probe that maps to Xq27?Xq28 |
|
|
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|
|
|
|
|
| A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker |
|
|
|
|
|
|
✓ |
|
African-specific |
| The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome |
|
|
|
|
|
|
|
|
|
| Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese |
|
|
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|
|
|
|
|
|
| A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova) |
|
|
|
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|
|
|
| Assignment by in situ hybridization of the angiotensinogen gene to chromosome band 1q4, the same region as the human renin gene |
|
|
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|
|
|
|
|
|
| Frequency and effect of human apolipoprotein A-IV polymorphism on lipid and lipoprotein levels in an Icelandic population |
|
|
|
|
|
|
✓ |
|
Icelandic population |
| Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome |
|
|
|
|
|
|
|
|
|
| A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites |
|
|
|
|
|
|
|
|
|
| Replication studies in the 16p+ variant |
|
|
|
|
|
|
|
|
|
| An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene |
|
|
|
|
|
|
|
|
|
| Attempt to calculate the allele frequency distribution of a TaqI RFLP detected by the highly polymorphic probe YNH24 |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium between cystic fibrosis locus and three DNA markers, XV-2c, KM19 and MP6d-9, in 43 Spanish families |
|
|
|
|
|
|
|
|
|
| Definition of an acquired 11q deletion in a tumorigenic human monocytic cell line |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Nuclear architecture of human pachytene spermatocytes: quantitative analysis of associations between nucleolar and XY bivalents |
|
|
|
|
|
|
|
|
|
| Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia |
|
|
|
|
|
|
|
|
|
| The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA |
|
|
|
|
|
|
|
|
|
| Assignment of human tracheobronchial mucin gene(s) to 11p15 and a tracheobronchial mucin-related sequence to chromosome 13 |
|
|
|
|
|
|
|
|
|
| Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes |
|
|
|
|
|
|
|
|
|
| Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant |
|
|
|
|
|
|
✓ |
|
Druze |
| Analysis of gene-dosage effects on the expression of CD18 by trisomy 21 lymphoblastoid cell-lines using a statistical model to fit flow cytometry profiles |
|
|
|
|
|
|
|
|
|
| Assignment of the gene for central core disease to chromosome 19 |
|
|
|
|
|
|
|
|
|
| Changing paternal age distribution and the human mutation rate in Europe |
|
|
|
|
|
|
|
|
|
| Association analysis of lipid levels and apolipoprotein restriction fragment length polymorphisms |
|
|
|
|
|
|
|
|
|
| Heterozygous expression of X-linked chondrodysplasia punctata |
|
|
|
|
|
|
|
|
|
| A recombination map of the human X-chromosome |
|
|
|
|
|
|
|
|
|
| Abnormal hemoglobins in the Silk Road region of China |
|
|
|
|
|
|
|
|
|
| The major cystic fibrosis mutation in a British population |
|
|
|
|
|
|
|
|
|
| The gene coding for the ?-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32 |
|
|
|
|
|
|
|
|
|
| BglII restriction fragment length polymorphisms at the human p53 gene locus |
|
|
|
|
|
|
|
|
|
| HLA class I gene polymorphism in genetic hemochromatosis |
|
|
|
|
|
|
|
|
|
| The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family |
|
|
|
|
|
|
|
|
|
| A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome |
|
|
|
|
|
|
|
|
|
| Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Isolation and regional localisation of DNA sequences from a human chromosome 11-specific cosmid library |
|
|
|
|
|
|
|
|
|
| Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant |
|
|
|
|
|
|
|
|
|
| Choroideremia associated with an X-autosomal translocation |
|
|
|
|
|
|
|
|
|
| Isolation of a cDNA clone encoding a novel form of granzyme B from human NK cells and mapping to chromosome 14 |
|
|
|
|
|
|
|
|
|
| Germinal mosaicism in Crouzon syndrome |
|
|
|
|
|
|
|
|
|
| An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus |
|
|
|
|
|
|
|
|
|
| Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code? |
|
|
|
|
|
|
|
|
|
| Lymphocyte and sperm chromosome studies in cancer-treated men |
|
|
|
|
|
|
|
|
|
| Mitotic disturbance associated with mosaic aneuploidies |
|
|
|
|
|
|
|
|
|
| Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level |
|
|
|
|
|
|
|
|
|
| Genetic studies on human thyroxine-binding globulin (TBG) |
|
|
|
|
|
|
|
|
|
| The 60 and 63 kDa proteolytic peptides of the red cell membrane band-3 protein: their prevalence in human and non-human primates |
|
|
|
|
|
|
|
|
|
| In search of a genetic basis for the Rett syndrome |
|
|
|
|
|
|
|
|
|
| Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis |
|
|
|
|
|
|
|
|
|
| Cytogenetic and molecular analysis of a Yq isochromosome |
|
|
|
|
|
|
|
|
|
| Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation |
|
|
|
|
|
|
|
|
|
| Multiple levels of analysis of an IGHG4 gene deletion |
|
|
|
|
|
|
|
|
|
| Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families? |
|
|
|
|
|
|
|
|
|
| The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene |
|
|
|
|
|
|
|
|
|
| Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Editorial help |
|
|
|
|
|
|
|
|
|
| Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy |
|
|
|
|
|
|
|
|
|
| Fragile�expression and�inactivation |
|
|
|
|
|
|
|
|
|
| Localisation of a cDNA clone for human cytokeratin 18 to chromosome 17p11?p12 by in situ hybridisation |
|
|
|
|
|
|
|
|
|
| Y isochromosome associated with a mosaic karyotype and inactivation of the centromere |
|
|
|
|
|
|
|
|
|
| Significance of structural chromosome aberrations in human sperm: analysis of induced aberrations |
|
|
|
|
|
|
|
|
|
| ?-Galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population |
|
|
|
|
|
|
✓ |
|
Finnish population |
| Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
|
|
|
|
|
|
|
|
|
| A common Chinese ?-thalassemia mutation found in a Japanese family |
|
|
|
|
|
|
|
|
|
| The “polyclonal hyperimmunoglobulin G1(A1) syndrome” is a secondary phenomenon due to autoimmune disease |
|
|
|
|
|
|
|
|
|
| Characteristic chromosome abnormalities, including rearrangements of 6p, del(7q), +12, and t(12;14), in 44 uterine leiomyomas |
|
|
|
|
|
|
|
|
|
| Distal trisomy 14q |
|
|
|
|
|
|
|
|
|
| Evidence that expression of Sp?I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous ?-spectrin allele |
|
|
|
|
|
|
|
|
|
| The human aminopeptidase N gene: isolation, chromosome localization, and DNA polymorphism analysis |
|
|
|
|
|
|
|
|
|
| Chromosomal damage in lymphocytes and fibroblasts of patients treated for testicular cancer |
|
|
|
|
|
|
|
|
|
| Variability in expression of common fragile sites: in search of a new criterion |
|
|
|
|
|
|
|
|
|
| The gene for 17beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12?q21, and shows an RFLP with ScaI |
|
|
|
|
|
|
|
|
|
| Locus assignment of human ?-globin structural mutants by selective enzymatic amplification of ?1 and ?2-globin cDNAs |
|
|
|
|
|
|
|
|
|
| Investigation of three patients with the ?ring syndrome?, including familial transmission of ring 5, and estimation of reproductive risks |
|
|
|
|
|
|
|
|
|
| The origin of sickle cell alleles in Israel |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the human MHC class I region in hereditary haemochromatosis |
|
|
|
|
|
|
|
|
|
| Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction |
|
|
|
|
|
|
|
|
|
| Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14 |
|
|
|
|
|
|
|
|
|
| Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians |
✓ |
|
|
|
✓ |
|
✓ |
|
northern-European; Chinese |
| Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30 |
|
|
|
|
|
|
|
|
|
| Acute intermittent porphyria caused by a C?T mutation that produces a stop codon in the porphobilinogen deaminase gene |
|
|
|
|
|
|
|
|
|
| Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies of chromosome aberrations |
|
|
|
|
|
|
|
|
|
| TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency |
|
|
|
|
|
|
|
|
|
| Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis |
|
|
|
|
|
|
|
|
|
| The human QARS locus: assignment of the human gene for glutaminyl-tRNA synthetase to chromosome 1q32?42 |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) NullNewport (Gly115?Ser) and (Pi) Z Wrexham (Ser?19?Leu) |
|
|
|
|
|
|
|
|
|
| Chromosomal aberrations in patients with primary biliary cirrhosis |
|
|
|
|
|
|
|
|
|
| In situ chromosome preparation technique for simultaneous cytogenetic and immunocytochemical studies on cell cultures of solid tumors |
|
|
|
|
|
|
|
|
|
| Deletion 3q27?3qter associated with a new skin disorder? |
|
|
|
|
|
|
|
|
|
| Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization |
|
|
|
|
|
|
|
|
|
| Regional assignment of the human thymidylate synthase (TS) gene to chromosome band 18p11.32 by nonisotopic in situ hybridization |
|
|
|
|
|
|
|
|
|
| X chromosome imprinting in fragile�syndrome |
|
|
|
|
|
|
|
|
|
| Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation |
|
|
|
|
|
|
|
|
|
| Distal trisomy 14q |
|
|
|
|
|
|
|
|
|
| A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual |
|
|
|
|
|
|
|
|
|
| A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary |
|
|
|
|
|
|
|
|
|
| The critical region on the human Xq |
|
|
|
|
|
|
|
|
|
| Leukaemia and transient leukaemia in Down syndrome |
|
|
|
|
|
|
|
|
|
| Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation |
|
|
|
|
|
|
|
|
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| Involvement of the region 13q14 in a patient with adamantinoma of the long bones |
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| Amplification of the COL2A1 3? variable region used for segregation analysis in a family with the Stickler syndrome |
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| Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics |
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throughout Europe |
| Trophoblast glycoprotein recognised by monoclonal antibody 5T4 maps to human chromosome 6q14?q15 |
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| Regional assignment of the human C1-inhibitor gene to 11q11?q13.1 |
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| Complex translocations, simple variant translocations and Ph-negative cases in chronic myelogenous leukaemia |
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| Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families |
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| An informative polymorphism detectable by polymerase chain reaction at the 3? end of the dystrophin gene |
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| Announcements |
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| Clinical and genetic heterogeneity in retinitis pigmentosa |
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| A new HaeIII polymorphism at the D21S13 locus |
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| Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus |
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