| The pseudoautosomal regions of the human sex chromosomes |
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| A study of the association between schizophrenia and the dopamine D3 receptor gene |
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| Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and m |
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| Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome) |
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| X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation? |
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| Identification of an uncommon haptoglobin type using DNA and protein analysis |
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| Molecular analysis of a ring chromosome X in a family with fragile X syndrome |
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| The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy |
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| Molecular characterization of ?-thalassemia in Hungary |
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| D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p) |
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| Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome |
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| A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene |
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| Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa |
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| Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia |
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| Heterogeneity of DNA and RNA in Hunter patients |
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| DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers |
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| ?Premature anaphase? in a couple with recurrent miscarriages |
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| The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele |
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| Assignment of human ?-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization |
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| A high-resolution cytogenetic map of human chromosome 12: Localization of 195 new cosmid markers by direct R-banding fluorescence in situ hybridization |
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| A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene |
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| Human complement C81 (C8 A) polymorphism: detection and segregation of new variants |
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| Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations |
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| Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia |
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| Homozygosity for inversion (2)(p12q14) |
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| An unreported RFLP for probe 218 EP6 that is useful in linkage analysis of adult polycystic kidney disease |
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| Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis |
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| High degree of genetic polymorphism in apolipoprotein(a) associated with plasma lipoprotein(a) levels in Japanese and Chinese populations |
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| Frequent occurrence of familial aggregations of high lipoprotein(a) levels associated with small apolipoprotein(a) isoforms |
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| Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33 |
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| RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families |
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| Von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis |
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| EcoRI restriction fragment length polymorphism in human glycogen synthase gene |
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| A common exonic polymorphism in the human D5 dopamine receptor gene |
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| Topographic pattern of the rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy |
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| Analysis of 6 VNTR loci by ?multiplex? PCR and automated fluorescent detection |
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| South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population |
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| Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria |
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| A new polymorphism in the gene for GAP43 |
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| Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping |
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| Allele frequencies and linkage disequilibrium of polymorphic DNA markers of the Huntington disease region in the German population |
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| Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations |
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| Generation of a chromosome-22-specific c-DNA library as confirmed by FISH analysis |
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| Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25 |
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| Human fibronectin gene (FN1) RFLPs: Mapping and linkage disequilibrium analysis |
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| Oocyte selection model for the maternal age-dependence in Down syndrome |
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| A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones |
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| Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences |
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| Somatic pairing of centromeres and short arms of chromosome 15 in the hematopoietic and lymphoid system |
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| Chromosomal localization of 9 KOX zinc finger genes: physical linkages suggest clustering of KOX genes on chromosomes 12, 16, and 19 |
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| The human cytochrome b5 gene and two of its pseudogenes are located on chromosomes 18q23, 14q31-32.1 and 20p11.2, respectively |
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| Rapid detection of single nucleotide deletions: application to the ? 6 (-A) mutation of the ?-globin gene and to cystic fibrosis |
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| An EcoRI RFLP in the 5′ region of the human NF1 gene |
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| Announcements |
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| Sequence variability of the tetranucleotide repeat of the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2) locus |
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| The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting |
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| Rearrangements between irradiated chromosomes in three-species radiation hybrid cell lines revealed by two-color in situ hybridization |
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| Meiotic recombination in an Irish family with beta-thalassaemia |
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| Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study |
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| Absence of linkage to the ataxia telangiectasia locus in familial breast cancer |
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| Physical mapping shows close linkage between the ?-galactosidase A gene (GLA) and the DXS178 locus |
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| Identification of a novel T-insertion polymorphism at the DMD locus |
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| The immunoglobulin ? locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals |
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✓ |
|
Caucasoid and non-Caucasoid individuals |
| Announcements |
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| Molecular and cytogenetic analyses of autism in Taiwan |
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| Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region |
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| An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A |
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| Supernumerary marker chromosomes in peripheral blood cells of hepatitis B virus chronic carriers |
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| Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii |
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| Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75?Cys mutation in the procollagen type II gene (COL2A1) |
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| Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency |
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| A rare reciprocal translocation (12;21) segregating for nine generations |
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| A myeloblastin/proteinase-3 cDNA clone identifies a BglII and a PvuII restriction fragment length polymorphism |
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| Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation ? FH469?Stop |
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|
| Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH) |
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| Recurrent mutations in the factor IX gene: founder effect or repeat de novo events |
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| For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns |
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| No relationship between genetic instability in Bloom's syndrome and DNA hypomethylation of some major repetitive sequences |
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|
| G2 phase cell cycle disturbance as a manifestation of genetic cell damage |
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| The human complement component C8B gene: structure and phylogenetic relationship |
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| Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis |
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| Alpha-thalassemia in the four major aboriginal groups in Taiwan |
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| Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate |
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| Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome |
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| Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 |
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|
| PCR-based detection of one BamHI polymorphic site in the human T cell receptor delta gene TCRDV2 |
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|
|
| High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy |
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|
✓ |
|
Japanese families |
| Prothymosin ? gene in humans: organization of its promoter region and localization to chromosome 2 |
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| Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells |
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| Human malformations similar to those in the mouse mutation disorganization (Ds) |
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| Parental origin of triploidy in human fetuses: evidence for genomic imprinting |
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| Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene |
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| Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies |
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| Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms |
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|
|
| Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families |
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| Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies |
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|
|
| Assignment of the human aggrecan gene AGC1 to 15q25?q26.2 by in situ hybridization |
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|
|
| A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa |
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| Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y |
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| Announcements |
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| Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability |
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| Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization |
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|
|
| Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population |
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| Polymorphisms in the apolipoprotein B-100 gene contributes to normal variation in plasma lipids in 464 Danish men born in 1948 |
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| X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder |
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| Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree |
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|
| Hereditary recombined three-allele variant of the Gc system |
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| Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain |
|
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|
|
| Sequence variant of the human cathepsin G gene |
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|
| Polymorphic tandem repeat region in interleukin-1α intron 6 |
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| D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene |
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| A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations |
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|
|
| Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22 |
|
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|
|
| High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19 |
|
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|
|
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|
|
| Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia |
|
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|
|
| Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area |
|
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| Two cystic fibrosis patients with the genotype G542X/G551D |
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| DXS539, a polymorphic DNA marker proximal of the fragile-X gene |
|
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|
|
| Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism |
|
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|
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| Age-related nonrandom chromosomal abnormalities in human low-grade astrocytomas |
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|
| Polyploidies in abortion material decrease with maternal age |
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| Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism |
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|
| Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis |
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✓ |
|
Icelandic |
| Rapid detection of trisomy 21 by quantitative PCR |
|
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|
|
| Differential contribution of C4 and HLA-DQ genes to systemic lupus erythematosus susceptibility |
|
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|
| Regional chromosomal assignment of the Kell blood group locus (KEL) to chromosome 7q33-q35 by fluorescence in situ hybridization: evidence for the polypeptide nature of antigenic variation |
|
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|
|
| Isolation and mapping of discrete DXS101 loci in Xq22 near the X-linked agammaglobulinaemia gene locus |
|
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|
|
| A polymorphic CfoI site in exon 6 of the human cytochrome P450 CYP2D6 gene detected by the polymerase chain reaction |
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|
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| Announcements |
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| Prospects for the genetics of human longevity |
|
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|
| Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error? |
|
|
|
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|
|
✓ |
|
non-Ashkenazi Jewish families |
| Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH |
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| Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell lines |
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|
|
| Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height |
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|
| New markers for linkage analysis of X-linked hypophosphataemic rickets |
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|
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|
|
| Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization |
|
|
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|
|
| Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations |
|
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|
|
| CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene |
|
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|
|
| Diagnosis of human genetic disease using recombinant DNA |
|
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| Loss of heterozygosity and K-ras gene mutations in gastric cancer |
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|
|
| Phenylketonuria in Spain: RFLP haplotypes and linked mutations |
|
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|
|
| Retrospective molecular detection of transhyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues |
|
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|
|
| Genetic mapping of the erythropoietin receptor gene |
|
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|
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|
|
|
| Dinucleotide repeat polymorphisms at the lipoprotein lipase (LPL) locus |
|
|
|
|
|
|
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|
|
| Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3?p11.22 region |
|
|
|
|
|
|
|
|
|
| Founder effect in a Belgian-Dutch fragile X population |
|
|
|
|
|
|
✓ |
|
Belgian-Dutch |
| Genetic and molecular analysis of familial isolated growth hormone deficiency |
|
|
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|
|
| Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p |
|
|
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|
|
| Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis |
|
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|
|
| Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus |
|
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|
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|
|
| Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints |
|
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|
|
| Fetal cells in the maternal circulation during first trimester in pregnancies |
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| Announcements |
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|
|
| Partial physical map of human chromosome 21 from fibroblast and lymphocyte DNA |
|
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|
| Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome |
|
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|
|
| Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA) |
|
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|
|
| Spectrin ?IIa variant in dominant and non-dominant spherocytosis |
|
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|
|
| C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema |
|
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|
|
| Polymorphisms of the apolipoprotein B and E genes and their relationship to plasma lipid variables in healthy Chinese men |
|
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|
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|
|
✓ |
|
healthy Chinese men |
| Presence of fetal cells in maternal circulation after delivery |
|
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|
|
| Duplication detection in Japanese Duchenne muscular dystrophy patients and identification of carriers with partial gene deletions using pulsed-field gel electrophoresis |
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|
|
| Human chromosome 11 complements ataxia-telangiectasia cells but does not complement the defect in AT-like Chinese hamster cell mutants |
|
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|
|
|
|
|
| Detection of an exon 53 polymorphism in the dystrophin gene |
|
|
|
|
|
|
|
|
|
| The phenylketonuria G272X haplotype 7 mutation in European populations |
|
|
|
|
✓ |
|
|
|
European populations |
| Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families |
|
|
|
|
|
|
|
|
|
| Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene |
|
|
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|
|
|
|
|
|
| A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization |
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|
|
| Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district |
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|
|
| Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs |
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|
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| Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18 |
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| Down syndrome: effects of demographic factors and prenatal diagnosis on the future livebirth prevalence |
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| Exclusively paternal X chromosomes in a girl with short stature |
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|
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| Affinity differences for vitamin D metabolites associated with the genetic isoforms of the human serum carrier protein (DBP) |
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| The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus |
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|
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|
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| Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage |
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|
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| Cytogenetic findings in crossed renal ectopia with pelvic lipomatosis |
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| Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome |
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|
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| Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter |
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|
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| Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms |
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| A new polymorphic marker (D10S97) tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus |
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|
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|
|
| Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome |
|
|
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|
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|
|
| Molecular evaluation of an Alu repeat including a polymorphic variable poly(dA) (AluVpA) in the vitamin D binding protein (DBP) gene |
|
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|
|
|
| The human interleukin-6 receptor ? chain gene is localized on chromosome 1 band q21 |
|
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|
|
| X chromosome linkage studies in familial Rett syndrome |
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|
|
| Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism |
|
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|
|
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|
|
| Apolipoprotein B signal peptide polymorphism in patients with myocardial infarction and controls |
|
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|
|
|
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|
|
| Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region |
|
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|
|
| Distribution of DYZ2 repetitive sequences on the human Y chromosome |
|
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|
|
| A polymorphism in the 5? region of coagulation factor VII gene (F7) caused by an inserted decanucleotide |
|
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|
|
| Reevaluation of the chromosome 4q candidate region for early onset periodontitis |
|
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|
|
| Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age |
|
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|
|
| SSCP detection of a Gly565Val substitution in the pro?(I) collagen chain resulting in osteogenesis imperfecta type II |
|
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|
|
| Demographic reductions and genetic bottlenecks in humans: minisatellite allele distributions in oceania |
|
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|
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|
|
| Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma |
|
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|
|
| Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone |
|
|
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|
|
| Inter-ethnic polymorphism of the ?-globin gene locus control region (LCR) in sickle-cell anemia patients |
|
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|
|
| Analysis of human extrachromosomal DNA elements originating from different ?-satellite subfamilies |
|
|
|
|
|
|
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|
|
| The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene |
|
|
|
|
|
|
|
|
|
| Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13 |
|
|
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|
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|
|
| Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan |
|
|
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|
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|
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|
|
| A frequent EcoRI polymorphism in the bcl-2 gene |
|
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|
|
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|
|
| Choroid plexus cysts diagnosed prenatally as an independent risk factor for cytogenetic abnormality |
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|
|
| Hereditary hydronephrosis and the short arm of chromosome 6 |
|
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|
|
| Relation of cardiovascular risk factors to atherosclerosis in type III hyperlipoproteinemia |
|
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|
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|
|
| Prenatal sex determination from maternal peripheral blood using the polymerase chain reaction |
|
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|
|
|
|
| Molecular study of chromosome 15 in 22 patients with Angelman syndrome |
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|
|
| Cloning and chromosome mapping of human retinoid X receptor ?: selective amino acid sequence conservation of a nuclear hormone receptor in mammals |
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|
|
| Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts |
|
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|
|
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|
|
| Chromosomal analysis of unfertilized human oocytes prepared by a gradual fixation-air drying method |
|
|
|
|
|
|
|
|
|
| Linkage studies in Italian families with familial adenomatous polyposis |
|
|
|
|
|
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|
|
| A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families |
|
|
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|
|
|
|
|
| Flow cytometric and cytogenetic analyses in human spontaneous abortions |
|
|
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|
|
|
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|
|
| Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit |
|
|
|
|
|
|
|
|
|
| Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2 |
|
|
|
|
|
|
|
|
|
| Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene |
|
|
|
|
|
|
|
|
|
| Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X |
|
|
|
|
|
|
|
|
|
| The human apolipoprotein B 3? hypervariable region: detection of eight new alleles and comparisons of allele frequencies in blacks and whites |
|
|
|
|
|
|
|
|
|
| Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis |
|
|
|
|
|
|
|
|
|
| A new polymorphic restriction site at the human atrial natriuretic peptide (hANP) gene locus |
|
|
|
|
|
|
|
|
|
| Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene |
|
|
|
|
|
|
|
|
|
| H-Y (SDM) antibody specifically binds M�llerian inhibiting substance |
|
|
|
|
|
|
|
|
|
| Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10 |
|
|
|
|
|
|
|
|
|
| Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene |
|
|
|
|
|
|
|
|
|
| An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism |
|
|
|
|
|
|
|
|
|
| Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme |
|
|
|
|
|
|
|
|
|
| Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas |
|
|
|
|
|
|
|
|
|
| Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26?q26.1 |
|
|
|
|
|
|
|
|
|
| Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia |
|
|
|
|
|
|
|
|
|
| Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia |
|
|
|
|
|
|
|
|
|
| Why are some genetic diseases common? |
|
|
|
|
|
|
|
|
|
| A new human brain cDNA molecule: assignment to chromosome 11q21-q23.1 and description of two polymorphisms studied by the polymerase chain reaction |
|
|
|
|
|
|
|
|
|
| Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene |
|
|
|
|
|
|
|
|
|
| Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining |
|
|
|
|
|
|
|
|
|
| A novel nonsense mutation in the protein C (PROC) gene (Trp-29?Term) causing recurrent venous thrombosis |
|
|
|
|
|
|
|
|
|
| Reproductive hormone genes in mothers of spontaneous dizygotic twins: an association study |
|
|
|
|
|
|
|
|
|
| Molecular cytogenetic study of patients with Pallister-Killian syndrome |
|
|
|
|
|
|
|
|
|
| Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11 |
|
|
|
|
|
|
|
|
|
| Characterization of genetic markers in the 5? flanking region of the apo A1 gene |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium of three polymorphic RFLP markers in the apolipoprotein AI-CIII gene cluster on chromosome 11 |
|
|
|
|
|
|
|
|
|
| A PvuII polymorphism of the low density lipoprotein receptor gene is not associated with plasma concentrations of low density lipoproteins including LP(a) |
|
|
|
|
|
|
|
|
|
| Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes |
|
|
|
|
|
|
|
|
|
| Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system |
|
|
|
|
|
|
|
|
|
| Changes of telomere lengths in human intracranial tumours |
|
|
|
|
|
|
|
|
|
| High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria |
|
|
|
|
|
|
|
|
|
| A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews |
|
|
|
|
|
|
✓ |
|
Sephardic Jews |
| Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? |
|
|
|
|
|
|
|
|
|
| Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination |
|
|
|
|
|
|
|
|
|
| Prothymosin ? gene in humans: organization of its promoter region and localization to chromosome 2 |
|
|
|
|
|
|
|
|
|
| Human breast cancer: frequent p53 allele loss and protein overexpression |
|
|
|
|
|
|
|
|
|
| An ?-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the ?V/41 polymorphism |
|
|
|
|
|
|
|
|
|
| A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria |
|
|
|
|
|
|
✓ |
|
North African Jews |
| Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique |
|
|
|
|
|
|
|
|
|
| Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome |
|
|
|
|
|
|
|
|
|
| A study of the genetic polymorphism of human inter-alpha-trypsin-inhibitor (ITI) in the Han population, Chengdu, China |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Molecular defect in human erythropoietic protoporphyria with fatal liver failure |
|
|
|
|
|
|
|
|
|
| Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene |
|
|
|
|
|
|
|
|
|
| Patterns of deletions of the dystrophin gene in different European populations |
|
|
|
|
|
|
|
|
|
| A ?-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Chromosomal localization of four human zinc finger cDNAs |
|
|
|
|
|
|
|
|
|
| Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling |
|
|
|
|
|
|
|
|
|
| Colocalization of the genes coding for the ?3 and ?3 subunits of soluble guanylyl cyclase to human chromosome 4 at q31.3?q33 |
|
|
|
|
|
|
|
|
|
| A recombinant Friedreich's ataxia family |
|
|
|
|
|
|
|
|
|
| Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate |
|
|
|
|
|
|
|
|
|
| Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis |
|
|
|
|
|
|
|
|
|
| HLA-A/B haplotye frequencies among U.S. Hispanic and African-American populations |
|
|
|
|
|
|
✓ |
|
Hispanic; African-American |
| Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq |
|
|
|
|
|
|
|
|
|
| Elevated frequency of an ETS-1 restriction fragment polymorphism in chronic B-cell leukaemia |
|
|
|
|
|
|
|
|
|
| Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2?12 |
|
|
|
|
|
|
|
|
|
| Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat |
|
|
|
|
|
|
|
|
|
| Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec |
|
|
|
|
|
|
|
|
|
| A novel mutation in exon 3 of the CFTR gene |
|
|
|
|
|
|
|
|
|
| The 11p15.5 ribonucleotide reductase M1 subunit locus is not imprinted in Wilms' tumour and hepatoblastoma |
|
|
|
|
|
|
|
|
|
| Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism |
|
|
|
|
|
|
|
|
|
| Polymorphism of glucose dehydrogenase (GDH, EC 1.1.1.47): formal and population genetic data |
|
|
|
|
|
|
|
|
|
| G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews |
|
|
|
|
|
|
|
|
|
| The relationship between meiotic chromosome pairing and chiasma formation |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency |
|
|
|
|
|
|
|
|
|
| Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q |
|
|
|
|
|
|
|
|
|
| Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation |
|
|
|
|
|
|
|
|
|
| A parental combination analysis for ABO-HP interaction in a Bengali population |
|
|
|
|
|
|
|
|
|
| Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes |
|
|
|
|
|
|
|
|
|
| Development of a sequence-tagged site for the centromere of chromosome 10: its use in cytogenetic and physical mapping |
|
|
|
|
|
|
|
|
|
| Deletion of 19 base pairs in intron 13 of the gene for the pro?2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region |
|
|
|
|
|
|
|
|
|
| Immunophenotyping of mitotic cells from long-term cultures of chorionic villi |
|
|
|
|
|
|
|
|
|
| FFU complex: an analysis of 491 cases |
|
|
|
|
|
|
|
|
|
| Human ?2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism |
|
|
|
|
|
|
|
|
|
| A 40-nucleotide repeat polymorphism in the human dopamine transporter gene |
|
|
|
|
|
|
|
|
|
| Human reciprocal translocations: is the unbalanced mode at birth predictable? |
|
|
|
|
|
|
|
|
|
| The immunoglobulin ? locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals |
|
|
|
|
|
|
|
|
|
| Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Th�ringen) |
|
|
|
|
|
|
|
|
|
| An interleukin-8 (IL-8) cDNA clone identifies a frequent HindIII polymorphism |
|
|
|
|
|
|
|
|
|
| Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction |
|
|
|
|
|
|
|
|
|
| The two locus control of Leber hereditary optic neurophathy and a high penetrance in Japanese pedigrees |
|
|
|
|
|
|
|
|
|
| Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non |
|
|
|
|
✓ |
|
|
|
northern European family |
| Excess of multifocal tumors in nephroblastoma: implications for mechanisms of tumor development and genetic counseling |
|
|
|
|
|
|
|
|
|
| Human zinc finger gene ZNF23 (Kox16) maps to a zinc finger gene cluster on chromosome 16q22, and ZNF32 (Kox30) to chromosome region 10q23-?q24 |
|
|
|
|
|
|
|
|
|
| Focal epithelial hyperplasia: human-papillomavirus-induced disease with a genetic predisposition in a Venezuelan family |
|
|
|
|
|
|
|
|
|
| Duplication of the short arm of the X chromosome in mother and daugther |
|
|
|
|
|
|
|
|
|
| Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene |
|
|
|
|
|
|
|
|
|
| Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20 |
|
|
|
|
|
|
|
|
|
| The effect of the apolipoprotein E phenotype on plasma lipids is not influenced by environmental variability: results of a Dutch twin study |
|
|
|
|
|
|
✓ |
|
Dutch |
| Chrosomal mapping of the human gene for the tricyclic antidepressant-sensitive noradrenaline transporter |
|
|
|
|
|
|
|
|
|
| Distinct molecular origins for Denys-Drash and Frasier syndromes |
|
|
|
|
|
|
|
|
|
| A null allele frequent in non-Jewish Tay-Sachs patients |
|
|
|
|
|
|
|
|
|
| Identification of an alternative 5? untranslated region of the adenomatous polyposis coli gene |
|
|
|
|
|
|
|
|
|
| A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level |
|
|
|
|
|
|
|
|
|
| Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17) |
|
|
|
|
|
|
|
|
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| An RFLP for probe 26-6 that is useful in linkage diagnosis for adult polycystic kidney disease |
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| An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13 |
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| Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization |
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| A single amino acid deletion in the ?2(I) chain of type I collagen produces osteogenesis imperfecta type III |
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| Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3?q22.1 |
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| Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization |
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| Detection of amplified DNA sequences by reverse chromosome painting using genomic tumor DNA as probe |
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