| Proceed with much more caution |
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| Single base pair germ-line deletion in the p53 gene in a cancer predisposed family |
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| Supernumerary chromosomes and spermatogenesis in a human male carrier |
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| Identification of deletions in thebtk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia |
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| Clinical Case Report |
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| BamHI restriction fragment length polymorphism (RFLP) at the human GST3 gene locus |
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| Dinucleotide repeat polymorphism at 11q23 |
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| Toward the complete genomic map and molecular pathology of human chromosome 4 |
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| Parental origin of germ-line and somatic mutations in the retinoblastoma gene |
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| Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene |
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| A novel mosaic Bantu/Benin/Bantu βs haplotype found in several African populations |
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✓ |
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African populations; Bantu; Benin |
| A human cDNA coding for the Leydig insulin-like peptide (Ley I-L) |
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| A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene |
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| Announcements |
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| The polymorphism of the plasma inter-α-trypsin inhibitor (ITI) and its relationship to the heavy chain H1 subunit gene (ITIH1) at 3p211-212 |
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| Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly |
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| Proceed with caution — but proceed! |
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| Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency |
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| Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene |
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| Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI |
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| Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans |
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| A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron |
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| Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population |
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| Genetic polymorphisms of the CST2 locus coding for cystatin SA |
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| Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dys |
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| The utilization of interphase cytogenetic analysis for the detection of mosaicism |
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| Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome |
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| The spatial localization of homologous chromosomes in human fibroblasts at mitosis |
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| Mutation screening by a combination of biotin-SSCP and direct sequencing |
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| Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2) |
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| Prevalence of beta allele of the insulin gene in type II diabetes mellitus |
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| Coamplification on chromosomes 7p12-13 and 9q12-13 identified by reverse chromosome painting in a glioblastoma multiforme |
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| Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent |
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boy of Spanish descent |
| Nuclear-encoded subunits of human cytochrome c oxidase: SstI restriction fragment length polymorphism |
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| An additional HpaII polymorphism in exon 2 of the human platelet membrane glycoprotein IIIa gene |
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| Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21 |
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| A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix |
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| Molecular analysis of esterase D polymorphism |
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| Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) |
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| Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema |
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| Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues |
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| Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death |
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| Chromosomal damage in sperm of patients surviving Hodgkin's disease following MOPP (nitrogen mustard, vincristine, procarbazine, and prednisone) therapy with and without radiotherapy |
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| A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon |
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| Linkage mapping of the spinal muscular atrophy gene |
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| A multiple interval physical map of the pericentromeric region of human chromosome 10 |
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| Human familial and sporadic breast cancer: analysis of the coding regions of the 17?-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay |
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| Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene |
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| Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus |
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| Chronic childhood spinal muscular atrophy in Germany (West-Th�ringen) ? an epidemiological study |
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| A new highly polymorphic DNA restriction site marker in the 5? region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma |
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| Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene |
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| Insertion/deletion polymorphism within a polyadenylate stretch at the human atrial natriuretic peptides (hANP) gene locus |
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| ?Cryptic? dinucleotide polymorphism in the 3? region of the factor IX gene shows substantial variation among different populations |
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| Duplication of 1F and 1A2 genes in the vitamin D-binding protein (GC) system |
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| Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene |
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| Molecular basis for subtypic differences of the ?a? subunit of coagulation factor XIII with description of the genesis of the subtypes |
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| Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus |
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| Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds |
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| Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome |
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| Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene |
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| Chromosomal localization of the human histamine H1-receptor gene |
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| Variability in allelic DNA methylation in spermatozoa |
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| An MspI polymorphism in the X-specific region proximal to the pseudoautosomal boundary. A new example of a unique ?African? marker? |
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| Geographical distribution of haplotypes in Swedish families with Huntington's disease |
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| Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis |
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| Linkage disequilibrium relationships among four polymorphisms within the human fibrinogen gene cluster |
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| Balanced autosomal translocations and ovarian dysgenesis |
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| Familial resemblance for immunoglobulin levels |
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| Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Karelian patients with coronary heart disease |
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| Deletion polymorphism in the gene for angiotensin converting enzyme is associated with elevated fasting blood glucose levels |
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| Angiotensin I-converting enzyme (ACE): estimation of DNA haplotypes in unrelated individuals using denaturing gradient gel blots |
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| Exonic polymorphisms in the protein C gene: interethnic comparison between Caucasians and Asians |
✓ |
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✓ |
|
Asians |
| Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172 |
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| Parathyroid Water Clear Cell Hyperplasia, an O-allele associated condition |
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| A characteristic sequence of trisomies starting with trisomy 7 in benign thyroid tumors |
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| Sublocalization of a locus at 3p21.3?23 predisposing to hereditary nonpolyposis colon cancer |
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| Genetic analysis of the catalytic domain of the GAP gene in human lung cancer cell lines |
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| Presence of an expressed ?-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction |
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| Highly polymorphic repeat marker within the ?-amyloid precursor protein gene |
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| Ordering markers in the region of the ataxia-telangiectasia gene (11q22-q23) by fluorescence in situ hybridization (FISH) to interphase nuclei |
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| Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing |
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| A human gene that restores the DNA-repair defect in SCID mice is located on 8p11.1?q11.1 |
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| Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient |
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| Expression of (cac)n/(gtg)n simple repetitive sequences in mRNA of human lymphocytes |
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| Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis |
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| Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours |
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| Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles |
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| Isolation and characterization of the human genomic locus coding for the putative metastasis control gene nm23-H1 |
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| Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene |
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| The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed |
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| Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32 |
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| Detection of a MspI restriction fragment length polymorphism for the human sex hormone-binding globulin (SHBG) gene |
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| Corrections to the human mitochondrial ribosomal RNA sequences |
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| Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus |
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| Editorial help |
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| Announcements |
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| Incidence of chromosome 3, 7, 10, 11, 17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization |
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| Human high-affinity Fc?RI (CD64) gene mapped to chromosome 1q21.2-q21.3 by fluorescence in situ hybridization |
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| Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations |
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| Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese |
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| Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-?-trypsin inhibitor heavy chain H1 gene |
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| The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome |
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| A long range restriction map spanning the myxoid liposarcoma breakpoint in the q13-14 region of human chromosome 12 |
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| CFTR mutations in Chilean cystic fibrosis patients |
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| Germ line origins of de novo mutations in hemophilia B families |
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| Skipping of multiple CFTR exons is not a result of single exon omissions |
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| A polymorphic poly-A sequence in the 5? region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11?-hydroxylase genes defects |
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| Intracellular processing and maturation of mutant gene products in hereditary ?-galactosidase deficiency (?-galactosidosis) |
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| Maternal cell contamination in amniotic fluid samples as a consequence of the sampling technique |
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| Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1 |
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| G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype |
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| Diagnosis of fragile X syndrome by direct mutation analysis |
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| Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families |
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| Polymorphism of pentanucleotide repeats in the 5? flanking region of glutathione S-transferase (GST) ? gene |
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| No amyloid precursor protein 708 mutation in 50 Swedish Alzheimer's disease patients |
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✓ |
|
Swedish |
| Multiple endocrine neoplasia type 1 (MEN1) in two Asian families |
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✓ |
|
Asian |
| Apparent regression of the CGG repeat in FMR1 to an allele of normal size |
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| A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia |
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| A pentanucleotide tandem duplication polymorphism in the 3? untranslated region of the HLA-linked heat-shock protein 70-2 (HSP70-2) gene |
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| Complete detection of mutations in cystic fibrosis patients of Native American origin |
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✓ |
|
Native American |
| Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility |
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| The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris |
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| Characterization of the three genotypes of low Km aldehyde dehydrogenase in a Japanese population |
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✓ |
|
Japanese population |
| Genetically polymorphic ?-l-fucosidase (FUCA1) isozymes detected in blood plasma |
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| Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome |
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| Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene |
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| Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation |
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| Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection |
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| Aneuploidy and ageing: sex chromosome exclusion into micronuclei |
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| Chromosomal localization of the human histone H2A.X gene to 11q23.2-q23.3 by fluorescence in situ hybridization |
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| A novel case of compound heterozygosity with ?Normandy?/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing |
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| Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes |
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| Glycophorin variants and Plasmodium falciparum: protective effect of the Dantu phenotype in vitro |
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| Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in |
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| Sickle cell anemia, sickle cell ?-thalassemia, and thalassemia major in Albania: characterization of mutations |
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| A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population |
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| Two new Gaucher disease mutations |
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| Definitive assignment of the growth hormone-releasing factor gene to 20q11.2 |
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| D3S1229 and D3S1246 correspond to the same dinucleotide repeat polymorphism |
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| Fluorescence in situ hybridization reveals a break in the ?-satellite DNA of chromosome 1 in a family with a balanced whole-arm translocation |
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| Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis |
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| Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization |
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| Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease |
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| Gene frequencies of alcohol dehydrogenase2 (ADH2) and aldehyde dehydrogenase2 (ALDH2) in five Chinese minorities |
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| Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients |
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| A novel polymorphism in the coding sequence of the human RET proto-oncogene |
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| Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein |
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| Expression and chromosomal mapping of the gene encoding the human histone H1.1 |
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| Genetic heterogeneity of severe von Willebrand disease type III in the German population |
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| A WAGR region gene between PAX-6 and FSHB expressed in fetal brain |
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| New sites of methylcytosine-rich DNA detected on metaphase chromosomes |
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| Male meiotic segregation of gonosomes analysed by two colour FISH in human interphase spermatozoa |
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| The human RAD51/RecA homologue gene is not a candidate gene for Bloom's syndrome |
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| Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal |
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| ICF syndrome: a new case and review of the literature |
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| Identification of trisomy in Macaca fascicularis by fluorescence in situ hybridization with a human chromosome 13 DNA library |
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| Population Genetic Characteristics of the D1S80 locus in seven human populations |
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| No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes |
|
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|
|
| Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa |
|
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| Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications |
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| DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles |
|
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|
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| Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site |
|
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| Announcements |
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| Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21 |
|
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| WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin |
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| Assignment of human satellite 1 DNA as revealed by fluorescent in situ hybridization with oligonucleotides |
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| Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies |
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| 394delTT: a Nordic cystic fibrosis mutation |
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| Cystic fibrosis in a low-incidence population: two major mutations in Finland |
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| Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations |
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| Autosomal dominant cyclic hematopoiesis: exclusion of linkage to the major hematopoietic regulatory gene cluster on chromosome 5 |
|
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|
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| Mapping of the human gene encoding the mutual signal-transducing subunit (?-chain) of granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and interleukin-5 (IL-5) receptor |
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| Assignment of the human indoleamine 2,3-dioxygenase gene to chromosome 8 using the polymerase chain reaction |
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| Precise localization on chromosome 12 of the ATF-1 gene by fluorescence in situ hybridization |
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| Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes ?-aminobutyraldehyde |
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| Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13 |
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| HaeIII polymorphism in intron 1 of the human p53 gene |
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| Polymorphism in the human ?2 adrenergic receptor gene detected by Restriction Endonuclease digestion with Fnu4HI |
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| Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17) |
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| Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia |
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| Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A |
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| The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes |
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| Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees |
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| Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma |
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| Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen |
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| Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis |
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| At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria |
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| Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis |
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|
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| Mammalian adenylyl cyclase family members are randomly located on different chromosomes |
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| Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis |
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✓ |
|
Filipino |
| Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients |
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|
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| Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) |
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|
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| Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12 |
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|
|
| Genetic and physical mapping of the GLUR5 glutamate receptor gene on human chromosome 21 |
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|
|
| The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families |
|
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|
|
| A new complex polymorphic repeat close to the HLA-A and HLA-E loci |
|
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|
|
| A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent |
|
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|
✓ |
|
Arab descent |
| An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13 |
|
|
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|
|
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|
|
| Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase |
|
|
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|
|
|
|
|
|
| Multiplex PCR screening detects small p53 deletions and insertions in human ovarian cancer cell lines |
|
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|
|
|
|
| A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region |
|
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|
|
|
|
| Unbiased transmission of mutant alleles at the human retinoblastoma locus |
|
|
|
|
|
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|
|
| Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes |
|
|
|
|
|
|
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|
|
| Linkage analysis of the genetic determinants of high density lipoprotein concentrations and composition: evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci |
|
|
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|
|
|
|
|
|
| Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma |
|
|
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|
|
| Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia |
|
|
|
|
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|
|
| Identification of three novel mutations (457 TAT?G, D192G, Q685X) in the Slovenian CF patients |
|
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|
✓ |
|
Slovenian |
| Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes |
|
|
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|
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|
|
| PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus |
|
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|
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|
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|
|
| Affected sib-pair analysis of the GLUT1 glucose transporter gene locus in non-insulin-dependent diabetes mellitus (NIDDM): evidence for no linkage |
|
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|
|
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|
|
| A base substitution at IVS-19 3?-end splice junction causes exon 20 skipping in pro?2(I) collagen mRNA and produces mild osteogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Genetic mapping of 14 short tandem repeat polymorphisms on human chromosome 22 |
|
|
|
|
|
|
|
|
|
| A unique origin for Sicilian (??)?-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis |
|
|
|
|
|
|
✓ |
|
Sicilian |
| Polymorphisms in the 3′ untranslated region of the IκB/MAD-3 (NFKBI) gene located on chromosome 14 |
|
|
|
|
|
|
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|
|
| Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4 |
|
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|
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|
|
|
| Anticipation in hereditary dentatorubral-pallidoluysian atrophy |
|
|
|
|
|
|
|
|
|
| Assignment of the human 8.5 H gene to chromosome 5, region 5q35 |
|
|
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|
|
|
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|
|
| Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families |
|
|
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|
|
|
|
|
|
| Molecular defects in erythropoietic protoporphyria with terminal liver failure |
|
|
|
|
|
|
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|
|
| Assignment of the gene encoding the human gonadotropin-releasing hormone receptor to 4q13.2?13.3 by fluorescence in situ hybridization |
|
|
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|
|
|
|
|
|
| Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| (G)n-Mononucleotide polymorphism in the human D4 dopamine receptor (DRD4) gene |
|
|
|
|
|
|
|
|
|
| TaqI dimorphic site in a human pancreatic phospholipase A2 (PLA2) gene localized on chromosome 12 |
|
|
|
|
|
|
|
|
|
| Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus |
|
|
|
|
|
|
|
|
|
| A NlaIII polymorphism within the human factor VII gene |
|
|
|
|
|
|
|
|
|
| BglII identifies a frequent biallelic DNA polymorphism of the human RT6 gene |
|
|
|
|
|
|
|
|
|
| No maternal age relationship for polyploidy |
|
|
|
|
|
|
|
|
|
| Genetics of the human electroencephalogram (EEG) and event-related brain potentials (ERPs): a review |
|
|
|
|
|
|
|
|
|
| Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene |
|
|
|
|
|
|
|
|
|
| Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22 |
|
|
|
|
|
|
|
|
|
| A polymorphic alpha satellite sequence specific for human chromosome 13 detected by oligonucleotide primed in situ labelling (PRINS) |
|
|
|
|
|
|
|
|
|
| Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma |
|
|
|
|
|
|
|
|
|
| Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype |
|
|
|
|
|
|
|
|
|
| Biochemical and molecular studies of 132 patients with galactosemia |
|
|
|
|
|
|
|
|
|
| No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity |
|
|
|
|
|
|
✓ |
|
Chinese family |
| Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
|
|
|
|
|
|
|
|
|
| Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease |
|
|
|
|
|
|
|
|
|
| Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families |
|
|
|
|
|
|
|
|
|
| ?-Thalassemia mutations in Singapore ? a strategy for prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| A fluorescent in situ hybridization analysis of X chromosome pairing in early human female meiosis |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families |
|
|
|
|
|
|
|
|
|
| DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers |
|
|
|
|
|
|
|
|
|
| Interleukin 1 receptor antagonist gene polymorphism association with lichen sclerosus |
|
|
|
|
|
|
|
|
|
| Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns |
|
|
|
|
|
|
|
|
|
| Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique |
|
|
|
|
|
|
|
|
|
| Parental origin of the extra chromosomes in polysomy X |
|
|
|
|
|
|
|
|
|
| Fine mapping of human PI 3-kinase associated p85? transcripts in the YAC contig surrounding the spinal muscular atrophy gene |
|
|
|
|
|
|
|
|
|
| Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus |
|
|
|
|
|
|
|
|
|
| Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families |
|
|
|
|
|
|
|
|
|
| Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease |
|
|
|
|
|
|
✓ |
|
Japanese |
| Refined mapping of the human Ets-related gene Elk-1 to Xp11.2–p11.4, distal to the OATL1 region |
|
|
|
|
|
|
|
|
|
| Etiological aspects of congenital diaphragmatic hernia: results of a case comparison study |
|
|
|
|
|
|
|
|
|
| Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication |
|
|
|
|
|
|
|
|
|
| Characterization of several DNA polymorphic markers in the LIF gene region |
|
|
|
|
|
|
|
|
|
| Polymorphism in the human E-selectin gene detected by PCR-SSCP |
|
|
|
|
|
|
|
|
|
| A PvuII polymorphism near exon 2 of the dystrophin gene |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations |
|
|
|
|
|
|
|
|
|
| Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine) |
|
|
|
|
|
|
|
|
|
| Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome |
|
|
|
|
|
|
|
|
|
| Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes |
|
|
|
|
|
|
|
|
|
| SRVX, a sex reversing locus in Xp21.2?p22.11 |
|
|
|
|
|
|
|
|
|
| Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I?IV as a means of diagnostics and classification |
|
|
|
|
|
|
|
|
|
| Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome |
|
|
|
|
|
|
|
|
|
| Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing |
|
|
|
|
|
|
|
|
|
| Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot |
|
|
|
|
|
|
|
|
|
| Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research |
|
|
|
|
|
|
|
|
|
| Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis |
|
|
|
|
|
|
|
|
|
| Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects |
|
|
|
|
|
|
|
|
|
| Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes |
|
|
|
|
|
|
✓ |
|
Spanish population |
| Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family |
|
|
|
|
|
|
|
|
|
| A Sau3A polymorphism in the 5? end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion |
|
|
|
|
|
|
|
|
|
| Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds |
|
|
|
|
|
|
|
|
|
| A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval |
|
|
|
|
|
|
|
|
|
| Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens |
|
|
|
|
|
|
|
|
|
| Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome |
|
|
|
|
|
|
|
|
|
| PstI identifies biallelic DNA polymorphism of the human casein kinase 2? gene (CSNK2A1) |
|
|
|
|
|
|
|
|
|
| Two new polymorphisms in the human elastin gene (ELN) |
|
|
|
|
|
|
|
|
|
| Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1) |
|
|
|
|
|
|
|
|
|
| A polymorphic STS in intron 44 of the dystrophin gene |
|
|
|
|
|
|
|
|
|
| An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene |
|
|
|
|
|
|
|
|
|
| Transferrin types and expression of hereditary hemochromatosis |
|
|
|
|
|
|
|
|
|
| Verification of the transthyretin met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequening |
|
|
|
|
|
|
✓ |
|
Danish origin |
| Announcements |
|
|
|
|
|
|
|
|
|
| On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT) |
|
|
|
|
|
|
|
|
|
| Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25 |
|
|
|
|
|
|
|
|
|
| Physical mapping in the region of the Bruton's tyrosine kinase and ?-galactosidase A gene loci in proximal Xq22 |
|
|
|
|
|
|
|
|
|
| Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneitiy of Crigler-Najjar syndrome type I: A study of 14 cases |
|
|
|
|
|
|
|
|
|
| Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias |
|
|
|
|
|
|
|
|
|
| Mammalian meiotic recombination: a reexamination |
|
|
|
|
|
|
|
|
|
| Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation |
|
|
|
|
|
|
|
|
|
| The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis |
|
|
|
|
|
|
|
|
|
| Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever |
|
|
|
|
|
|
|
|
|
| The CL100 gene, which encodes a dual specificity (Tyr/Thr) MAP kinase phosphatase, is highly conserved and maps to human chromosome 5q34 |
|
|
|
|
|
|
|
|
|
| Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations |
|
|
|
|
|
|
|
|
|
| A Japanese patient with the Costello syndrome |
|
|
|
|
|
|
✓ |
|
Japanese |
| A Gln-281 to Arg substitution in ?-l-fucosidase is responsible for a common polymorphism detected by isoelectric focusing |
|
|
|
|
|
|
|
|
|
| Identification of three RFLPs at the HCK locus on chromosome 20 |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
✓ |
|
Japanese |
| Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens |
|
|
|
|
|
|
|
|
|
| Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Evidence against DNA polymerase ? as a candidate gene for Werner syndrome |
|
|
|
|
|
|
|
|
|
| Novel cystic fibrosis mutation associated with mild disease in Cypriot patients |
|
|
|
|
|
|
✓ |
|
Cypriot |
| Ancestry of SINE-R.C2 a human-specific retroposon |
|
|
|
|
|
|
|
|
|
| Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria |
|
|
|
|
|
|
|
|
|
| A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism |
|
|
|
|
|
|
|
|
|
| TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation of the alpha-1-antitrypsin gene |
|
|
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| Fanconi anemia cells have a normal gene structure for topoisomerase I |
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| Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint |
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| Chromosomal localization of genes required for the terminal steps of oxidative metabolism: ? and ? subunits of ATP synthase and the phosphate carrier |
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| Identification of a polymorphism in intron 2 of the p53 gene |
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| A transcribed polymorphism and sub-localisation of MDM2 |
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| Immumoglobulin allotypes in Ecuadorian Cayapa Indians |
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| Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E) |
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| A new missense mutation (Cys297?Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste) |
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| A region-specific microdissection library for human chromosome 2p23?p25 and the analysis of an interstitial deletion of 2p23.3?p25.1 |
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| Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter |
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| The human vigilin gene: identification, chromosomal localization and expression pattern |
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| A chimaeric animal model for confined placental mosaicism |
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| Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis |
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| Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation |
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| Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy |
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| Spectrin ?IIa variant in dominant and non-dominant spherocytosis |
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