| Molecular analysis of aberrations of Xp and Yq |
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| Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families |
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| Sperm chromosome complements from two human reciprocal translocation heterozygotes |
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| Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction |
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| Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal |
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| Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects |
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| The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte |
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| Further characterization of the new marker at DXS115 with regard to carrier detection in hemophilia A |
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| Reply to the letter by Kling et al. |
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| Influence of HLA genotype on birth weight of patients with Turner syndrome |
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| Haplotype analysis at the low density lipoprotein receptor locus: application to the study of familial hypercholesterolemia in Israel |
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| Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis |
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| Chromosome 1 in human colorectal tumors |
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| The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1 |
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| Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels |
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| Maternal origin of deletion 15q11–13 in 25/25 cases of Angelman syndrome |
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| Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event |
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| Molecular characterization of β-thalassemia in Czechoslovakia |
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| The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism |
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| Polymorphisms in the apolipoprotein (apo) AI-CIII-AIV gene cluster: detection of genetic variation determining plasma apo AI, apo CIII and apo AIV concentrations |
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| Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism |
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| Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization |
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| Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes |
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| A possible mosaic form of delayed centromere separation and aneuploidy |
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| Announcements |
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| PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics |
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| Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis |
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| Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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✓ |
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Yupik Eskimos |
| Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele |
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| Genetic structures in the Po Delta: Principal components, systemic functions and the relative age of the beta-thalassemia polymorphism |
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| Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome |
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| Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the Elα subunit |
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| Molecular heterogeneity underlying the G6PD Mediterranean phenotype |
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| Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome |
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| Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients |
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| Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion |
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| A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis |
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| PGD Port Elizabeth: A new variant found in South Africa |
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| A 20-year-old male with partial trisomy 18q —as diagnosed by in situ hybridization |
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| Human triosephosphate isomerase: Substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester |
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| Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region |
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| Characterization of centromere arrangements and test for random distribution in G0, G1, S, G2, G1, and early S′ phase in human lymphocytes |
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| Physical mapping of an Xq-proximal interstitial duplication in a male |
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| Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction |
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| PCR assay for a polymorphicDdeI site in the promoter region of the human cystatin C gene |
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| Molecular basis of group A xeroderma pigmentosum: A missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene |
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| The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: Exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele |
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| Spontaneous abortion and confined chromosomal mosaicism |
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| Assignment of the gene encoding the catalytic subunit Cβ of CAMP-dependent protein kinase to the p36 band on chromosome |
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| Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2 |
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| X-linked retinitis pigmentosa: New map studies of XLRP2, and a possible human centromere effect |
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| The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction |
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| Regional chromosomal assignment of genes encoding the α and β subunits of human complement protein C8 to 1p32 |
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| Population cytogenetics of aphidicolin-induced fragile sites |
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| Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria |
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| ?I/65 Hereditary elliptocytosis in Southern Italy: Evidence for an African origin |
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✓ |
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African origin |
| Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population |
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| Refined regional assignment of the human tissue factor pathway inhibitor (TFPI) gene to chromosome band 2q32 by non-isotopic in situ hybridization |
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| A novel mutation in the ?-protein coding region of the amyloid ?-protein precursor (APP) gene |
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| Two PstI polymorphisms for the urokinase-type plasminogen activator receptor gene (PLAUR) |
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| Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia) |
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| Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism |
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| Identification of CpG islands around the DXS178 locus in the region of the X-linked agammaglobulinaemia gene locus in Xq22 |
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| Detection of a new polymorphism of the human prothrombin (F2) gene by combination of PASA and mutated primer-mediated PCR-RFLP |
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| Deletion of the 5?-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease |
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| On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality |
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| A familial mutation in the testis-determining gene SRY shared by both sexes |
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| Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency |
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✓ |
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Japanese |
| Variants of the anti-M�llerian hormone gene in a compound heterozygote with the persistent M�llerian duct syndrome and his family |
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| Alcohol dehydrogenase genes: restriction fragment length polymorphisms for ADH4 (?-ADH) and ADH5 (?-ADH) and construction of haplotypes among different ADH classes |
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| Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1) |
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| Analysis of ?-globin gene haplotypes in Asian Indians: origin and spread of ?-thalassaemia on the Indian subcontinent |
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| Genetic studies of antithrombin III with IEF and ASO hybridization |
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| ?-1-Antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing |
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| Aplasia cutis congenita reminiscent of the lines of Blaschko |
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| A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene |
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| Editorial help |
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| Huntington disease in Finland: a molecular and genealogical study |
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| Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect |
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| Missense mutations and the magnitude of functional deficit: the example of factor IX |
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| Human ?-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3? of the ?-globin gene |
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| Protease inhibitor (Pi) locus, fertility and twinning |
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| A novel sickle cell mutation of yet another origin in Africa: the Cameroon type |
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| No evidence for constitutional chromosome instability in testicular cancer |
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| Highly informative dinucleotide repeat polymorphism at the D11S29 locus on chromosome 11q23 |
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| Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene |
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| Three DNA markers for hypophosphataemic rickets |
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| The interleukin-7 receptor gene is at 5pl3 |
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| DNA analyses of XX and XX-hypospadiac males |
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| The gene encoding human transmembrane secretory component (locus PIGR) is linked to D1S58 on chromosome 1 |
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| The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration |
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| Preparation of a rat brain histidine decarboxylase (HDC) cDNA probe by PCR and assignment of the human HDC gene to chromosome 15 |
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| Absence of Turner stigmata in a 46,XYp-female |
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| A homozygous missense arginine to histidine substitution at position 482 of the ?-galactosidase in an Italian infantile GM1-gangliosidosis patient |
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| Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (Myoclonic epilepsy with ragged red fibers) encephalomyopathy |
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| Linkage to Xq28 in a family with nonspecific X-linked mental retardation |
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| Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56 |
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| Characterization and mapping of the 5? portion of von Willebrand factor pseudogene |
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| The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20pl2 by radioactive and nonradioactive in situ hybridization |
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| A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy |
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| Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis |
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| Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 |
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| A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome |
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| BglII RFLP in DXS498 between the pigment gene repeat unit, RCP and GCP |
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| Investigation of the polymorphic ScaI site by a PCR-based assay at the human atrial natriuretic peptides (hANP) gene locus |
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| Of palindromes and peptides |
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| A 47,XXY female with unusual genitalia |
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| Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locus |
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| Bloom's syndrome |
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| Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood |
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| Complete characterization of a large marker chromosome by reverse and forward chromosome painting |
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| Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction |
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| A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missen |
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| The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada |
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| Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene |
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| Molecular characterization of ?-thalassemia in Azerbaijan |
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| Alport syndrome: a genetic study of 31 families |
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| New chromosome 21 DNA markers isolated by pulsed field gel electrophoresis from an ETS2-containing Down syndrome chromosomal region |
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| Chromosomal assignment and linkage analysis of the human glutathione S-transferase ? gene (GSTM1) using intron specific polymerase chain reaction |
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| A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis |
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| Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line |
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| A very conservative region of ApoB-100 in the putative binding region to the LDL receptor in the Toulouse population |
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| Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-?F508 chromosomes in Southern France |
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| A novel missense mutation in the antithrombin III gene (Ala387?Val) causing recurrent venous thrombosis |
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| Announcements |
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| Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR |
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| Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase |
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| Discovery of a genetic polymorphism of human plasma protein C inhibitor (PCI): genetic survey utilizing isoelectric focusing followed by immunoblotting, immunological and biochemical characterization |
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| HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome |
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| Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population |
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| Pericentric inversion of chromosome 12; a three family study |
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| Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis |
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| Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus |
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| Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients |
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✓ |
|
Slovak |
| Trisomy 8p: unusual origin detected by fluorescence in situ hybridization |
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| RNA analysis from newborn screening dried blood specimen |
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| The molecular basis of β-thalassemia in Turkey |
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| Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden |
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| Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations |
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| ?-Thalassemia major resulting from a compound heterozygosity for the ?-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene |
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| The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18 |
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| Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians |
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| Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement |
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| A rare FokI RFLP in the human dopamine D2 receptor gene (DRD2) |
|
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| A polymorphic PstI site in intron 2 of the human apolipoprotein C-II gene detected by polymerase chain reaction |
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| DNA-fingerprinting: a further note on mutation rates |
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| Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant |
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| Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus |
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| Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease |
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| A new polymorphism of thyroxin-binding globulin in three African groups (Mali) with endemic nodular goitre |
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| Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth |
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| Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians |
✓ |
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| Prenatal diagnosis of familial hypercholesterolemia caused by the ?Lebanese? mutation at the low density lipoprotein receptor locus |
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✓ |
|
Lebanese |
| Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome |
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| Polymorphism in the RD (D6S45) gene |
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| Evidence for an ancestral alphoid domain on the long arm of human chromosome 2 |
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| Reduced recombination and paternal age effect in Klinefelter syndrome |
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| Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p |
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| PCR detection of a BclI RFLP in the G6PD gene of Caucasians |
✓ |
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| A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2 |
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| Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency |
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| Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome |
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| The spectrum of CFTR mutations in south-west German cystic fibrosis patients |
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| A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients |
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| Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II) |
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| A critical analysis of data presented in eight studies favouring X-linkage of bipolar illness with special emphasis on formal genetic aspects |
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| Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms |
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| A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis |
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| PCR detection of two RFLPs in exon I of the ?-L-iduronidase (IDUA) gene |
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| Cytogenetic, oncogenetic, and histopathologic characteristics of colorectal carcinomas with 17p abnormalities |
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| Risk calculations for hereditary effects of ionizing radiation in humans |
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| Genetic and blood coagulation characterization of ?Swedish? families with von Willebrand's disease types I and III: New aspects of heredity |
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✓ |
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Swedish |
| Differential termination of primer extension: a novel, quantifiable method for detection of point mutations |
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| Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening |
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| The polymorphism ApoB/4311 in patients with myocardial infarction and controls: the ECTIM study |
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| Cytogenetic studies in motile sperm from normal men |
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| Repair of human sperm chromosome aberrations in the hamster egg |
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| Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) |
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| Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β |
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| The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency |
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| Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12?21.1 |
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| The occurrence of various non-?F508 CFTR gene mutations among Hungarian cystic fibrosis patients |
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| Absence of p53 germ-line mutations in bilateral breast cancer patients |
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| A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite |
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| Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophor |
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| Increased expression of 5q31 fragile site in a Bloom syndrome family |
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| A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency |
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| Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa |
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| Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS) |
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| The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene |
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| Sperm chromosome complements from two human reciprocal translocation heterozygotes |
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| Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis |
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| Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20 |
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| Allotype distribution of human T cell receptor ? and ? chain genes in Caucasians, Asians and Australian Aborigines: Relevance to chronic hepatitis B |
✓ |
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✓ |
|
Asians and Australian Aborigines |
| Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal |
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| Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome |
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| Assignment of casein kinase 2 alpha sequences to two different human chromosomes |
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| The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders |
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| Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection |
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| Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17?-hydroxylase deficiency |
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✓ |
|
Canadian Mennonites; individuals residing in the Friesland region of the Netherlands |
| ?s Haplotypes in various world populations |
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| Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15 |
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| The gene for the human IgA Fc receptor maps to 19q13.4 |
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| Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in Southern African populations |
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| Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20 |
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| A rare MspI RFLP of the DMD probe p20 (DXS269) |
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| Highly polymorphic region of the human prothrombin (F2) gene |
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| A comment on the paper: Ovarian dysgenesis in individuals with chromosomal abnormalities, by C. Cunniff, K. Lyons Jones, and K. Benirschke |
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| Announcements |
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| Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene |
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| Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction |
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| Genotype mosaicism in fragile X fetal tissues |
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| Alport syndrome caused by a 5′ deletion within the COL4A5 gene |
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| Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine ?1(I) 901 substitution in a type-I collagen gene |
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| A new polymorphic site in the G6PD gene |
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| Assignment of the human CRABP-II gene to chromosome 1q21 by nonisotopic in situ hybridization |
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| Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) |
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| Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxi |
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| Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene |
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| Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders |
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| A non-alphoid repetitive DNA sequence from human chromosome 21 |
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| Detection of a common mutation of the catalase gene in Japanese acatalasemic patients |
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✓ |
|
Japanese |
| CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts |
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| Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease |
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| Nested polymerase chain reaction on cellular DNA in plasma: a rapid method to investigate the collagen type I A2 MspI polymorphic restriction site in alcoholic patients |
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| In situ hybridization of PCR amplified inter-Alu sequences from a hybrid cell line |
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| CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families |
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| Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM) |
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| Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree |
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✓ |
|
Old Order Amish |
| The human vitronectin (complement S-protein) gene maps to the centromeric region of 17q |
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| Pseudoautosomal repeat displays higher variability in Blacks than in Caucasians |
✓ |
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✓ |
|
Blacks |
| Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene |
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| Characterization of two novel polymorphisms at the human parathyroid hormone gene locus |
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| Localization of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein G (hnRNP-G) to chromosome 6p12 |
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| Selective advantage of fra(X) heterozygotes compared with mothers of Down syndrome probands? |
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| Mothers and grandmothers of Down's syndrome patients as controls for fra(X) carriers |
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| Announcements |
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| Sex determination and sex reversal: genotype, phenotype, dogma and semantics |
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| Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene |
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| Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells |
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| Genetic concepts in Greek literature from the eighth to the fourth century B.C. |
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| Complementation of a DNA repair deficiency in six human tumor cell lines by chromosome 11 |
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| Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians |
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| Screening for cystic fibrosis gene mutations by multiplex DNA amplification |
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| Search for putative suppressor genes in meningioma: significance of chromosome 22 |
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| PCR-assisted localization of the human SRPR gene |
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| De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies |
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| Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene |
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| Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts |
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| Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21 |
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| Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis |
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| Molecular screening and fetal diagnosis of ?-thalassemia in the Italian population |
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| The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes |
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| Identification of a missense phenylketonuria mutation at codon 408 in Chinese |
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| Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation |
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| A haplotype-linked four base pair deletion upstream of the A? globin gene coincides with decreased gene expression |
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| A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta |
|
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| Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1 |
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| A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis |
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| A HindIII/BglII dystrophin gene polymorphism in the African-American population |
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✓ |
|
African-American population |
| DNA analysis in Turkish Duchenne/Becker muscular dystrophy families |
|
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| Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene |
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| Announcements |
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| Molecular studies of parental origin and mosaicism in 45,X conceptuses |
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| Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation |
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| Fragile site (16) (q22) |
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| A novel NcoI polymorphism creates a fifth haplotype in the 3? untranslated region of CKM |
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| No abnormalities in the NAD+ ADP-ribosyltransferase (polymerizing) gene of transformed cells from a Fanconi's anemia patient |
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| No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity |
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|
✓ |
|
chinese family |
| ?-Globin gene cluster haplotypes in Yanomama Indians from the Amazon region of Brazil |
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| Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome |
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| Intrachromosomal insertions: a case report and a review |
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| Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool |
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|
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| Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease |
|
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|
|
| Analysis of the 5? flanking sequence of the G? globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu ?s haplotype |
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|
✓ |
|
Bantu |
| Polymerase chain reaction analysis of fragile X mutations |
|
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| Variable number of tandem repeat (VNTR) polymorphism at locus D17S5 (YNZ22) in four ethnically defined human populations |
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| Mitochondrial gene segregation in mammals: is the bottleneck always narrow? |
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| Different chromosomal localization of two adenylyl cyclase genes expressed in human brain |
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| Commingling and segregation analysis of serum uric acid in five North American populations: the Lipid Research Clinics family study |
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| Molecular genotyping of N-acetylation polymorphism to predict phenotype |
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| CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene |
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| Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients |
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| Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred |
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|
✓ |
|
Ashkenazic Jewish |
| Frequent polymorphism in the 13th exon of the adenomatous polyposis coli gene |
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| Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene |
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|
|
| Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosamimiria |
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|
|
✓ |
|
Japanese |
| Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant |
|
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|
|
| Two new alleles in the tetranucleotide repeat polymorphism at the lipoprotein lipase (LPL) locus |
|
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|
|
| Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec |
|
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|
|
| Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain |
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|
|
| Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21 |
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|
|
| Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8 |
|
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|
|
| Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei |
|
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|
|
| Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY |
|
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|
|
| Oocyte selection: a new model for the maternal-age dependence of Down syndrome |
|
|
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|
|
| Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3 |
|
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|
|
| The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences |
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|
|
| Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue |
|
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| The murine Rb(6.16) translocation: alterations in the proportion of alternate sperm segregants effecting fertilization in vitro and in vivo |
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|
|
| A genetic model for the Prader-Willi syndrome and its implication for angelman syndrome |
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| A genetic study of the human low-voltage electroencephalogram |
|
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|
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| The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor |
|
|
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|
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|
|
|
| Significantly higher frequency of the MspI 2.2 kb allele of the Duchenne muscular dystrophy intragenic probe P-20 in the Chinese population |
|
|
|
|
|
|
✓ |
|
Chinese population |
| De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene |
|
|
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|
|
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|
|
| Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation |
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|
|
|
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|
|
| Letters to the editors |
|
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|
| Chromosome 1 in human colorectal tumors |
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|
| Announcements |
|
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|
| Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis |
|
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|
| ααααanti-3.7 type II: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination |
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| Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia |
|
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| Plasminogen with type-I mutation is polymorphic in the Japanese population |
|
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| Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA |
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| Characterization of hypervariable locus-specific probes derived from a (CAC)5/(GTG)5 multilocus fingerprint in various Eurasian populations |
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| Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy |
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| Detection of GST1 gene deletion by the polymerase chain reaction and its possible correlation with stomach cancer in Japanese |
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| Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy |
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| Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12?q21 |
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| A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY |
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| No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia |
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| Haplotype distribution and mutations at the PAH locus in Croatia |
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| Mapping of the human COL5A1 gene to chromosome 9q34.3 |
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| Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation |
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| Rearrangements of the X chromosome and Turner syndrome |
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| Premature centromere division |
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| Involvement of 3:1 disjunction in the common reciprocal translocation t(11;22)(q23.3;q11.2) |
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| Proving paternity of children with deceased fathers |
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| Huntington disease in black African populations |
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✓ |
|
black African populations |
| Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands |
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| Heterozygote deficiency, population substructure and their implications in DNA fingerprinting |
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| Ewing's tumor X mouse hybrids expressing the MIC2 antigen: analyses using fluorescence CDD-banding and non-isotopic ISH |
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| Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients |
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✓ |
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German |
| Chromosomal localization of the human glycoasparaginase gene to 4q32?q33 |
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| Exclusion map of Salla disease: attempts to localize the disease gene using a computer program |
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| Sib pair linkage analysis of renin gene haplotypes in human essential hypertension |
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| Apolipoprotein E phenotypes and hyperlipidemia in patients under maintenance hemodialysis |
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| Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria |
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| A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV |
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| A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities |
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| Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia |
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| Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp |
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| Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene |
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| A possible example of gene conversion with a common ?-thalassemia mutation and Chi sequence present in the ?-globin gene |
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| Germinal ?mosaicism? ? germline mutation or chimerism? |
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| Prader-Willi or Angelman syndrome in familial 15q11?q13 deletion of maternal origin? |
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| Triple trisomy in a spontaneous abortion |
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| High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14 |
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| Chromosome 15p marker D15Z1 frequently maps to the short arm of other D-group chromosomes |
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| Announcements |
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| Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction |
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| Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study |
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✓ |
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a European study |
| Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes |
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| Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? |
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| Cloning of the human ?2-macroglobulin gene and detection of mutations in two functional domains: the bait region and the thiolester site |
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| Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females |
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| Distribution of ADH2 and ALDH2 genotypes in different populations |
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| Familial synovial chondromatosis combined with dwarfism |
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| A rare genetic variant of the T cell receptor gamma joining segment TRGJI |
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| The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation |
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| Loss of heterozygosity on chromosome 11 in sporadic gastrinomas |
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| Data on the interaction of ABO blood groups and the haptoglobin system |
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| The epidemiology of Huntington's disease |
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| Genetic heterogeneity of early-onset familial breast cancer |
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| Frequency of ?F508 and haplotype association in Austrian cystic fibrosis families |
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| Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis |
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| Differences in apolipoprotein(a) polymorphism in West Greenland Eskimos and Caucasian Danes |
✓ |
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| Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts |
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| Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types |
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| Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analys |
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| Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study |
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| Paracentric inversion 11q in Canadian Hutterites |
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| Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus |
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| The Kell blood group locus is close to the cystic fibrosis locus on chromosome 7 |
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| Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin |
|
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|
✓ |
|
Danish origin |
| Consanguinity and Down syndrome in the Shetland Islands |
|
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| A point mutation changes the polymorphisms pattern in a cystic fibrosis carrier family |
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| Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests |
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| A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the m |
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| Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec |
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| Structural gene aberrations in mucopolysaccharidosis II (Hunter) |
|
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| Familial pericentric inversion (3)(p12q24) |
|
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| Frequency of ?F508 mutation and haplotype analysis in Austrian cystic fibrosis families |
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