| The X-chromosomal human biglycan gene BGN is subject to X inactivation but is transcribed like an X-Y homologous gene |
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| Familial reciprocal translocation t(17;19) (q11.2;q13.2) associated with neurofibromatosis type 1, including one patient with non-Hodgkin lymphoma and an additional t(14;20) in B lymphocytes |
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| Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families |
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| Allelotyping of follicular thyroid tumors |
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| Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36 |
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| Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene |
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| Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome |
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| Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene |
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| Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature |
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| Transferable clastogenic activity in plasma from patients with Fanconi anemia |
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| Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach |
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| Maternal origin of nucleated erythrocytes in peripheral venous blood of pregnant women |
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| A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency |
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| Detection and characterization of new mutations in the human angiotensinogen gene (AGT) |
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| Ordering of markers in the pericentromeric region of chromosome 10 |
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| Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature |
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| Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor ?4 subunit gene (CHRNA4) |
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| A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level |
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| A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease |
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| Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia |
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✓ |
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French-Canadian kindred |
| Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias |
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| Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation |
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| Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region |
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| Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family |
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✓ |
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Portuguese |
| Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13 |
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| Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis |
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| ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome |
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| Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R? chain gene by single-strand conformation polymorphism analysis |
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| Improved carrier testing for multiple endocrine neoplasia, type 1, using new microsatellite-type DNA markers |
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| A novel coding exon of the human adenomatous polyposis coli gene |
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| Dinucleotide repeat polymorphism at the D5S99 locus on chromosome 5q33?34 |
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| Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4) |
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| Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant |
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| Linkage of the long QT syndrome to the short arm of chromosome 11: use of five highly polymorphic markers towards more detailed localization of the mutant gene |
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| Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms |
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| Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL) |
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| Tumor necrosis factor alpha (TNF-?) gene polymorphism in alopecia areata |
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| Linkage analysis and allelic imbalance in human breast cancer kindreds using microsatellite markers from the short arm of chromosome 3 |
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| Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion |
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| Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families |
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| Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409 |
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| Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization |
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| Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? |
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| An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome |
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| The importance of clinical documentation in genetic studies of male infertility |
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| Effects of the mutant von Willebrand factor gene in von Willebrand disease |
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| A common ? hexosaminidase gene mutation in adult Sandhoff disease patients |
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| Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region |
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| Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome |
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| Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia |
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| Role of genetic factors in bronchial cancer. Based upon a case of anaplastic lung carcinoma in identical twins |
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| A region of primer binding variation at the D6S265 locus associated with HLA-A25 and HLA-A26 antigens |
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| Detection of a C-insertion polymorphism within the human tumor necrosis factor alpha (TNFA) gene |
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| Polymorphic (AAT)n trinucleotide repeats derived from a human brain cDNA library |
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| Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y |
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| Positional cloning of cDNAs from the human chromosome 3p21?22 region identifies a clustered organization of zinc-finger genes |
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| Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions |
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| Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB) |
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✓ |
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Dutch |
| Isolation and characterization of a cosmid contig for the GCPS gene region |
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| Assignment of the developmentally regulated gene NEDD1 to human chromosome 12q22 by fluorescence in situ hybridization |
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| The human interleukin-10 receptor gene maps to chromosome 11q23.3 |
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| Association between coronary heart disease and the apolipoprotein A-I/C-III/A-IV complex in a Japanese population |
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| PKU in Slovakia: mutation screening and haplotype analysis |
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| Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population |
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✓ |
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Italian population |
| A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome |
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| Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein (a) size polymorphism |
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| Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: Identification of new markers for molecular-cytogenetic application |
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| Variability of the immunoglobulin heavy chain constant region locus: a population study |
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| Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV) |
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| Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences |
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| Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred |
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| Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations |
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| Localization of the human soluble epoxide hydrolase gene (EPHX2) to chromosomal region 8p21-p12 |
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| Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods |
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| DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63) |
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| Announcements |
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| Anorexia nervosa viewed as an extreme weight condition: genetic implications |
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| ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region |
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| Multi-PRINS: multiple sequential oligonucleotide primed in situ DNA synthesis reactions label specific chromosomes and produce bands |
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| Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28 |
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| Apolipoprotein E (apoE) polymorphism and its influence on ApoE concentrations in the cerebrospinal fluid in Finnish patients with Alzheimer's disease |
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✓ |
|
Finnish |
| High frequency of the apo ?4 allele in Khoi San from South Africa |
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| High resolution mid-prophase human chromosomes induced by echinomycin and ethidium bromide |
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| Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity |
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| XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene |
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| Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family |
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| A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion |
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| Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses |
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| Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families |
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| Characterization of a splicing mutation in the factor VIII gene at the RNA level |
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| Trisomy 21 and maternal age of menopause: does reproductive age rather than chronological age influence risk of nondisjunction? |
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| Five new microsatellite polymorphisms at the q21 region of human chromosome 21 |
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| Editorial help |
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| Identifying chromosomal fragile sites from individuals: a multinomial statistical model |
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| Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population |
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| Chromosomal localization of the human NF-E2 family of bZIP transcription factors by fluorescence in situ hybridization |
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|
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| Somatic expansion of the (CAG) n repeat in Huntington disease brains |
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| Deletion mapping of stature determinants on the long arm of the Y chromosome |
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| Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism |
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| Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric ?-satellite sequences |
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| The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus |
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| Transthyretin Ser 6 gene frequency in individuals without amyloidosis |
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| Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy |
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| An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution |
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| Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas |
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| Population study of a sequence polymorphism in intron 2 of the human ?-globin gene |
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| Sp?I/65 hereditary elliptocytosis in Calabria (southern Italy) |
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| A new restriction-site polymorphism in exon 18 of the low density lipoprotein receptor (LDLR) gene |
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| A TaqI polymorphism in the human erythroid ? spectrin gene |
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| Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3 |
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| Announcements |
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| Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) |
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| Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC*1A2 and GC*1A3, common in some Asian populations |
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| Genomic organization of human complement protein C8? and further examination of its linkage to C8? |
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| Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype |
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| Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect |
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| Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion |
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| A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND |
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| Identification of variable length polyadenosine tract at the dystrophin locus |
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| A new biallelic DNA polymorphism of the human COL5A1 gene |
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| Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease |
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| Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS) |
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|
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| Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 |
|
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|
|
| Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q |
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|
|
| A new polymorphism in the gene for the dopamine D2 receptor |
|
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| A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2 |
|
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|
|
| Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I |
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|
|
| Polymorphism in the 3? untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes |
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|
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| Analysis of steroid 21-hydroxylase gene mutations in the Spanish population |
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| Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness |
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|
|
| A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23 |
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| Rh ? plasma iron binding capacity association. New evidence |
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| Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p |
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| Somatic stability in chorionic villi samples and other Huntington fetal tissues |
|
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| An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient |
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|
|
| Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene |
|
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|
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|
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| Three new dinucleotide repeat polymorphisms on human chromosome 9: D9S970, D9S971, and D9S972 |
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|
|
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|
|
| Restriction polymorphisms of the ceruloplasmin gene on chromosome 3 |
|
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|
|
| A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene |
|
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|
|
| A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1 |
|
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|
|
| Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients |
|
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|
|
| Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome |
|
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|
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| Parental generalized EEG alpha activity predisposes to spike wave discharges in offspring |
|
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|
| APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis |
|
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|
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| Germline mosaicism for an alanine to valine substitution at residue ? 140 in hemoglobin Puttelange, a new variant with high oxygen affinity |
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| Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype |
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| Inheritance of migraine investigated by complex segregation analysis |
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|
|
| No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis |
|
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|
|
|
|
|
|
| Dinucleotide repeat polymorphism in the human ceruloplasmin gene |
|
|
|
|
|
|
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|
|
| Single nucleotide polymorphisms in the human E-cadherin gene |
|
|
|
|
|
|
|
|
|
| A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level |
|
|
|
|
|
|
|
|
|
| An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q |
|
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|
|
| The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence |
|
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|
| Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia |
|
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| Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation |
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| Polymorphic tri and tetranucleotide repeats in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene |
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| 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot |
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| Linkage analysis of 26 Canadian breast and breast-ovarian cancer families |
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| A molecular and cytogenetic study in Finnish Prader-Willi patients |
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| Number and sex of offspring of ΔF508 carriers outside cystic fibrosis families |
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| Refinement of the locus for X-linked recessive chondrodysplasia punctata |
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| Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8 |
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| Molecular analysis redefines three human chromosome 14 deletions |
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| Eleven novel mutations in the NF2 tumour suppressor gene |
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| No linkage to the 3?-HSD gene cluster in a kindred affected with 3?-hydroxy-?5-C27steroid dehydrogenase deficiency and early onset hepatic failure |
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| Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men |
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| ?-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins |
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| Tetra-/di-nucleotide repeat polymorphism upstream of the human ?2-globin gene locus at 16p13.3 |
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| An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia |
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| Screening for naturally occurring apolipoprotein A-I variants: apo A-I(?K107) is associated with low HDL-cholesterol levels in men but not in women |
|
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|
| Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families |
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| Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation |
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| Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney |
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| Genetic homogeneity of cartilage-hair hypoplasia |
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| A Gly238Ser substitution in the ?2 chain of type I collagen results in osteogenesis imperfecta type III |
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| Regional localization of th human EGF-like growth factor CRIPTO gene (TDGF-1) to chromosome 3p21 |
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| De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene |
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| Apoptosis regulatory gene NEDD2 maps to human chromosome segment 7q34?35, a region frequently affected in haematological neoplasms |
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| Identification of a PIG-A related processed gene on chromosome 12 |
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| Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3? non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in g |
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| Highly polymorphic dinucleotide repeat at the NF2 gene |
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| Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5 |
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| Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells |
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| Molecular basis of phenotypic variation in patients with argininemia |
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| Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin |
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| The eighth component of human complement: molecular basis of C8A (C81) polymorphism |
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| Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations |
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| Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana |
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| Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F |
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| A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis |
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| The MUC5AC gene: RFLP analysis with the Jer58 probe |
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| Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer |
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| Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer |
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| Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183) |
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| Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria |
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| X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affecte |
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| Distribution of human endogenous retrovirus HERV-K genomes in humans and different primates |
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| Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel |
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| Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences |
|
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|
|
| Exclusion of the cone-specific ?-subunit of the transducin gene in Stargardt's disease |
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|
|
| Heterogeneity of the apolipoprotein H *3 allele and its role in affecting the binding of apolipoprotein H (?2-glycoprotein I) to anionic phospholipids |
|
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|
|
| Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing |
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|
|
|
|
| Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations |
|
|
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|
|
|
|
|
|
| Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism |
|
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|
|
| New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE) |
|
|
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|
|
|
|
| Molecular basis of inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) polymorphism |
|
|
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|
|
| A novel missense mutation (Thr176?IIe) at the putative hinge of the neo N-terminus of activated protein C |
|
|
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|
|
|
|
|
|
| Identification of a PstI polymorphism in the p21Cip1/Waf1 cyclin-dependent kinase inhibitor gene |
|
|
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|
|
|
|
|
|
| Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families |
|
|
|
|
|
|
|
|
|
| A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene |
|
|
|
|
|
|
|
|
|
| C to T and/or G to A transitions are responsible for loss of a MspI restriction site at the 5?-end of the human apolipoprotein AI gene |
|
|
|
|
|
|
|
|
|
| The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme |
|
|
|
|
|
|
|
|
|
| Ornithine transcarbamylase deficiency: new sites with increased probability of mutation |
|
|
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|
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|
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|
|
| Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain |
|
|
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|
|
|
|
| The gene coding for the B cell surface protein CD19 is localized on human chromosome 16p11 |
|
|
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|
|
|
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|
|
| Common CFTR mutations are not likely to predispose to chronic bronchitis in Northern Germany |
|
|
|
|
|
|
|
|
|
| Confidence intervals for predicted age of onset, given the size of (CAG) n repeat, in Huntington's disease |
|
|
|
|
|
|
|
|
|
| Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family |
|
|
|
|
|
|
|
|
|
| Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages |
|
|
|
|
|
|
|
|
|
| Detection of a Tsp509I polymorphism in the 3? UTR of the human tyrosinase related protein-1 (TYRP) gene |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes |
|
|
|
|
|
|
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|
|
| Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862?Ser substitution in a type I collagen gene (COL1A1) |
|
|
|
|
|
|
|
|
|
| Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Three novel sequence variations in the 5? upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect |
|
|
|
|
|
|
|
|
|
| High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study |
|
|
|
|
|
|
|
|
|
| A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene |
|
|
|
|
|
|
|
|
|
| An intragenic deletion in the human PTPN6 gene affects transcriptional activity |
|
|
|
|
|
|
|
|
|
| Frequent sequence variant in the human tyrosine hydroxylase gene |
|
|
|
|
|
|
|
|
|
| Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations |
|
|
|
|
|
|
✓ |
|
Japanese; Jewish |
| A trinucleotide repeat combination polymorphism in the cardiac alpha myosin heavy chain (MYH6) gene |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome |
|
|
|
|
|
|
|
|
|
| Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood |
|
|
|
|
|
|
|
|
|
| Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes |
|
|
|
|
|
|
|
|
|
| Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3 |
|
|
|
|
|
|
|
|
|
| Three novel mutations in the interleukin-2 receptor ? chain gene in four Japanese patients with X-linked severe combined immunodeficiency |
|
|
|
|
|
|
✓ |
|
Japanese |
| De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring |
|
|
|
|
|
|
|
|
|
| Variation at the M235T locus of the angiotensinogen gene and essential hypertension: a population-based case-control study from Rochester, Minnesota |
|
|
|
|
|
|
|
|
|
| Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients |
|
|
|
|
|
|
|
|
|
| A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy |
|
|
|
|
|
|
|
|
|
| Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene |
|
|
|
|
|
|
|
|
|
| Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Wi |
|
|
|
|
|
|
|
|
|
| Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant |
|
|
|
|
|
|
|
|
|
| Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation |
|
|
|
|
|
|
|
|
|
| (CGG) trinucleotide repeat polymorphism in the 5? region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6 |
|
|
|
|
|
|
|
|
|
| Locus homogeneity for cartilage-hair hypoplasia proven? |
|
|
|
|
|
|
|
|
|
| Specification of the phenotype required for men with monoamine oxidase type A deficiency |
|
|
|
|
|
|
|
|
|
| The mutational demography of protein C deficiency |
|
|
|
|
|
|
|
|
|
| Isolation and chromosomal localization of a human ATP-regulated potassium channel |
|
|
|
|
|
|
|
|
|
| An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population |
✓ |
|
|
|
|
|
✓ |
|
west Japanese population |
| Polymorphisms in the human DNA polymerase ? gene |
|
|
|
|
|
|
|
|
|
| Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant |
|
|
|
|
|
|
|
|
|
| A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2 |
|
|
|
|
|
|
|
|
|
| A high-density microsatellite map of the ataxia-telangiectasia locus |
|
|
|
|
|
|
|
|
|
| Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1 |
|
|
|
|
|
|
|
|
|
| Mval polymorphism in the proteolipid protein (PLP) gene |
|
|
|
|
|
|
|
|
|
| Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13 |
|
|
|
|
|
|
|
|
|
| Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13 |
|
|
|
|
|
|
|
|
|
| Polymorphism of the pentanucleotide repeat d(AAAAT) within intron 1 of the human tumor suppressor gene p53 (17p13.1) |
|
|
|
|
|
|
|
|
|
| Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| The genetic contribution to the phenotype |
|
|
|
|
|
|
|
|
|
| Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis |
|
|
|
|
|
|
|
|
|
| Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462 |
|
|
|
|
|
|
|
|
|
| Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity |
|
|
|
|
|
|
|
|
|
| Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A) |
|
|
|
|
|
|
✓ |
|
Japanese |
| Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16 |
|
|
|
|
|
|
|
|
|
| A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme |
|
|
|
|
|
|
|
|
|
| Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected |
|
|
|
|
|
|
|
|
|
| A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region |
|
|
|
|
|
|
|
|
|
| Assignment of a human autoimmune antigen, p80-coilin gene to chromosome 17q21-q23 and of its possible pseudogene to chromosome 14 |
|
|
|
|
|
|
|
|
|
| A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene |
|
|
|
|
|
|
|
|
|
| Detection of a HindIII restriction fragment length polymorphism in the human phenol sulfotransferase (STP) locus |
|
|
|
|
|
|
|
|
|
| Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features |
|
|
|
|
|
|
|
|
|
| Coverage of chromosome 6 by chromosome microdissection: generation of 14 subregion-specific probes |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity of polycystic kidney disease in Bulgaria |
|
|
|
|
|
|
|
|
|
| Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient |
|
|
|
|
|
|
|
|
|
| Intricate combinatorial patterns of exon splicing generate multiple Rh-related isoforms in human erythroid cells |
|
|
|
|
|
|
|
|
|
| Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17 |
|
|
|
|
|
|
|
|
|
| Identification of a candidate missense mutation in a family with von Willebrand disease type IIC |
|
|
|
|
|
|
|
|
|
| Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family |
|
|
|
|
|
|
|
|
|
| Highly polymorphic sequence at D21S1448 mapping close to D21S55, within the Down syndrome critical region |
|
|
|
|
|
|
|
|
|
| ACP1 and human adaptability 1. Association with common diseases: a case-control study |
|
|
|
|
|
|
|
|
|
| Proliferation enhancement by spontaneous multiplication of chromosome 7 in rheumatic synovial cells in vitro |
|
|
|
|
|
|
|
|
|
| Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours |
|
|
|
|
|
|
|
|
|
| Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA |
|
|
|
|
|
|
|
|
|
| Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number |
|
|
|
|
|
|
|
|
|
| Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity |
|
|
|
|
|
|
|
|
|
| Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia |
|
|
|
|
|
|
✓ |
|
German population |
| Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes |
|
|
|
|
|
|
|
|
|
| RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome |
|
|
|
|
|
|
|
|
|
| Two highly polymorphic CA repeats in the Menkes gene (ATP7A) |
|
|
|
|
|
|
|
|
|
| Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation |
|
|
|
|
|
|
|
|
|
| A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia |
|
|
|
|
|
|
|
|
|
| Haplotype analysis of common transthyretin mutations |
|
|
|
|
|
|
|
|
|
| Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH |
|
|
|
|
|
|
|
|
|
| Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai |
|
|
|
|
|
|
|
|
|
| Susceptibility of heterochromatin to aphidicolin-induced chromosomal breakage |
|
|
|
|
|
|
|
|
|
| Evaluation of G-to-A substitution in the apolipoprotein A-I gene promoter as a determinant of high-density lipoprotein cholesterol level in subjects with and without cholesteryl ester transfer protein |
|
|
|
|
|
|
|
|
|
| A 100-kb physical and transcriptional map around the EDH17B2 gene: identification of three novel genes and a pseudogene of a human homologue of the rat PRL-1 tyrosine phosphatase |
|
|
|
|
|
|
|
|
|
| Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants |
|
|
|
|
|
|
|
|
|
| A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency |
|
|
|
|
|
|
✓ |
|
Spanish |
| Influence of transcription and replication on the in situ resolution of immunoglobulin heavy-chain constant region genes: an interphase cytogenetics analysis |
|
|
|
|
|
|
|
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| DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor |
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| Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication |
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| Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection |
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Egyptian and German patients |
| A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation |
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| Association of apolipoprotein E but not B with Alzheimer's disease |
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| Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura |
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| Human cDNA encoding the muscle isoform of the phosphorylase kinase ? subunit (PHKG1) |
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| Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene |
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| Huntington's disease in a Sudanese family from Khartoum |
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| Lack of a BglII site at the 5? region of the PGK 1 locus: a new variant discovered in two Chibchan Amerindian groups from Costa Rica |
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| Announcements |
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| Paracentric inversions: a review |
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| Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life |
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| Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses |
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| A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis |
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| Refined mapping of the psoriasin gene S100A7 to chromosome 1cen-q21 |
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| A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency |
✓ |
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| Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1?24.3 |
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