| Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families |
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| Keyword index |
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| Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population |
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✓ |
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Ashkenazi Jewish population |
| Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications |
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| Commentary: FISHing for the light at the ends of chromosomes |
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| A case of discordance between genotype and phenotype in a malignant hyperthermia family |
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| Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? |
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| Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami |
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| Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications |
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| Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder |
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| Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3′ exons |
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| Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA |
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| Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assay |
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| Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies |
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| A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3 |
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| Testing tumors for microsatellite instability |
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| Book review |
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| A tale of tags: report on a HUGO/EU SAGE Workshop, 29 January–1 February 1999, Hilversum, The Netherlands |
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| MtDNA-related idiopathic dilated cardiomyopathy |
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| Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1 |
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| Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) |
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| Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 |
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| Multiple APC mutations in sporadic flat colorectal adenomas |
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| Germline and gonosomal mosaicism in the ATR-X syndrome |
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| Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes |
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| Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations |
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| Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG) |
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| The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster |
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| Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli |
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| Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome |
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| Probing the Gene eXpression Database for candidate genes |
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| Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy |
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| Erratum: Corrigendum |
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| Author index |
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| Maternal UPD 20 in a hyperactive child with severe growth retardation |
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| Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1 |
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| Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium |
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| Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease |
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| Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study |
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| Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues |
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| Analysis of mutations in the tudor domain of the survival motor neuron protein SMN |
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| Further characteristics of proto-European Y chromosomes |
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| Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia |
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| Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers |
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| Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family |
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| Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging |
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| Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? |
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| Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter |
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✓ |
|
Gypsies |
| Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews |
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✓ |
|
Ashkenazi and non-Ashkenazi Jews |
| Molecular and clinical examination of an Italian DEFECT 11 family |
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| Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients |
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✓ |
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Greek ("Greek DMD/BMD patients") |
| Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients |
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| Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract |
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| Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing |
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| Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr–15 |
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| A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease |
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✓ |
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|
European pilot quality assessment scheme |
| Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland |
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| An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and norma |
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| Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups |
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| Characterisation and expression of a large, 13.7 kb FMR2 isoform. |
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| A complex haemoglobinopathy diagnosis in a family with both βo- and αo/+-thalassaemia homozygosity |
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| Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR) |
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| Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians |
✓ |
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✓ |
|
Africans |
| Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals |
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| DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter |
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| Haplotypes and mutations of the PAH locus in Egyptian families with PKU |
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| No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia |
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| Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach |
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| Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs |
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| Experimentally observed germline mutations at human micro- and minisatellite loci |
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| Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex |
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| Asynchronous replication of alleles in genomes carrying an extra autosome |
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| Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss |
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| Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation |
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| Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies |
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| Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33 |
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| Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome |
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|
| Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes |
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| An integrated map of chromosome 18 CAG trinucleotide repeat loci |
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| Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene |
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| Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome |
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| New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling |
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| Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus |
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| Spectrum of mutations in fucosidosis |
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| First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders |
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| Erratum: Errata |
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| Further growth in 1999 |
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| Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) |
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|
|
| Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene |
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|
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| Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 |
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|
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| Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden |
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| Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions |
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|
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| Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA) |
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| Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia |
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|
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| Revised exon–intron structure of human JAK3 locus |
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|
| FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy |
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|
|
| Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity |
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|
|
| The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2 |
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|
|
| Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients |
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| BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer |
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| A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin |
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|
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| Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample |
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| Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity |
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| Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity |
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| A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome |
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| Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene |
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| Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients |
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| Allelic heterogeneity of alkaptonuria in Central Europe |
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| Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis |
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|
|
| Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation |
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|
✓ |
|
Irish; French Canadian |
| Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa |
|
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|
✓ |
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|
south European |
| Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis |
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| Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1 |
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| Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome |
|
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|
|
| More evidence that founder effects exist in the European population |
|
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|
✓ |
|
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|
European population |
| Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations |
|
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|
| Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections |
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|
| Identification of the Finnish founder mutation for diastrophic dysplasia (DTD) |
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| A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect |
|
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|
|
| The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a |
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|
| Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling |
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| Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease |
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|
|
| Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing |
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|
|
| MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13 |
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|
| Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families |
|
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|
| Molecular characterisation of the defective α1-antitrypsin alleles PI Mwürzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle) |
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|
|
| Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype |
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|
|
| Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF |
|
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|
|
| SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis |
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|
|
| Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations |
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|
| Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations |
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|
| Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex |
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|
| mtDNA haplogroup J: a contributing factor of optic neuritis |
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|
| Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease |
|
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|
|
| (CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French–German population |
|
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|
✓ |
|
French–German population |
| Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland |
|
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|
|
| Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin |
|
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|
|
| Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis |
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|
|
| Molecular genetic analysis of human folate receptors in neural tube defects |
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|
|
| A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2 |
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|
|
| Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q |
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|
| Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions |
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| Apolipoprotein E and herpes virus diseases: herpes simplex keratitis |
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