| Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations |
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✓ |
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East European populations |
| Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene |
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| High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours |
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| Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal |
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| Effect of misspecification of gene frequency on the two-point LOD score |
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| Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations |
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| ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis |
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| Analysis of TSC2 stop codon variants found in tuberous sclerosis patients |
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| A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia |
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| Indication of linkage and genetic heterogeneity of asthma according to age at onset on chromosome 7q in 107 French EGEA families |
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| LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene |
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| Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome |
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| Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency |
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| PCAP is the major known prostate cancer predisposing locus in families from south and west Europe |
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| Letter |
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| Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy? |
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| A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region |
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| The impact of genotyping error on family-based analysis of quantitative traits |
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| Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages |
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| Maternally inherited deafness associated with a T1095C mutation in the mDNA |
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| XLMR genes: update 2000 |
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| Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome |
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| Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype |
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| Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome |
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| Letter |
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| Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects |
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| Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class |
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| A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia |
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| NEDD4L on human chromosome 18q21 has multiple forms of transcripts and is a homologue of the mouse Nedd4-2 gene |
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| Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus |
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| 3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: ‘Some Notable Progress’ |
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| Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland |
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| Linear increase of diploidy in human sperm with age: A four-colour FISH study |
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| N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients |
✓ |
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| Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families |
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✓ |
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Hellenic |
| Investigations of a CA repeat in the oestrogen receptor β gene in patients with Alzheimer's disease |
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| Author index to volume 9 |
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| Keyword index to volume 9 |
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| High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus |
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| Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes |
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| A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom |
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| A personal view on reviewing the psychological consequences of predictive genetic testing for late onset disease |
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| Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei |
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| Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing |
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| Incorporation of covariates in multipoint model-free linkage analysis of binary traits: how important are unaffecteds? |
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| A new locus for Seckel syndrome on chromosome 18p11.31-q11.2 |
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| Medical genomics |
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| Annual Review of Genomics and Human Genetics |
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| Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach |
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| Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma |
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| Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI) |
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| Best practice guidelines for molecular analysis in spinal muscular atrophy |
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| Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker |
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| A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels |
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| Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes |
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| Identification of a nonsense mutation in the PAX9 gene in molar oligodontia |
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| Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia |
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| Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome |
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| Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease |
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| A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation |
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| The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin |
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| Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction |
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| Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry |
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✓ |
|
Celtic ancestry; Italian population |
| Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population |
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✓ |
|
French population |
| Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree |
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| Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13 |
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| Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome |
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| Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes |
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| Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 |
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| The evidence of mtDNA haplogroup F in a European population and its ethnohistoric implications |
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✓ |
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European population |
| Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34 |
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| Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child |
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| The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy |
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| Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample |
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| BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients |
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| Linkage analysis in multiple sclerosis of chromosomal regions syntenic to experimental autoimmune disease loci |
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| Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions |
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| TP63 gene mutation in ADULT syndrome |
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| A genome screen for multiple sclerosis in Sardinian multiplex families |
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✓ |
|
Sardinian |
| Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis |
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| Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma |
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| Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome |
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| A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease |
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| A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus |
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| Parental mosaicism of JAG1 mutations in families with Alagille syndrome |
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| Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome |
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| Is mitochondrial DNA depletion involved in Alzheimer's disease? |
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| A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies |
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| Reply to letter from G Evers-Kiebooms |
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| Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world |
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| The spectrum of Familial Mediterranean Fever (FMF) mutations |
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| No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients |
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| Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay |
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| A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 |
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| Erratum: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome |
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| X-linked recessive inheritance of radial ray deficiencies in a family with four affected males |
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| Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia |
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| A genome-wide scan for preeclampsia in the Netherlands |
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| Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11 |
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| Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27 |
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| Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15 |
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| Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1 |
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| Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia |
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✓ |
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|
European circumpolar populations |
| Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease |
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| Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis |
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| Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia |
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| Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette |
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| Sensorineural hearing loss and the incidence of Cx26 mutations in Austria |
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| Parental origin of de novo MECP2 mutations in Rett syndrome |
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| Haplotypes vs single marker linkage disequilibrium tests: what do we gain? |
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| Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation |
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| An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis |
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| Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21 |
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| Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities |
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| Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands |
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| Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia |
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| Genetic polymorphism of MUC7: Allele frequencies and association with asthma |
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| Novel RET mutations in Hirschsprung's disease patients from the diverse South African population |
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✓ |
|
diverse South African population |
| Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease |
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| Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome |
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| Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population |
|
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| DNA sequence variability of IGHG3 alleles associated to the main G3m haplotypes in human populations |
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| Absence of the HIV-1 protective Δccr5 allele in most ethnic populations of India |
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✓ |
|
ethnic populations |
| The angiotensin converting enzyme I/D polymorphism in Russian athletes |
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| An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome |
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| Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families |
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| HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls |
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✓ |
|
Basque |
| Low incidence of UPD in spontaneous abortions beyond the 5th gestational week |
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| The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness |
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|
| Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE |
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| MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern |
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| A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD) |
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| Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia |
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| The family based association test method: strategies for studying general genotype–phenotype associations |
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| Analytic power calculation for QTL linkage analysis of small pedigrees |
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| Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC), neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 |
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| Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome |
|
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| Familial Mediterranean fever: prevalence, penetrance and genetic drift |
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| MUC1 gene polymorphism in the gastric carcinogenesis pathway |
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| Functional characterization of novel mutations in the human cytochrome b gene |
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| Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3) |
|
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|
| Mitochondrial DNA characterisation of European isolates: The Maragatos from Spain |
|
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|
✓ |
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|
European isolates |
| Serum myeloperoxidase concentration in a healthy population: biological variations, familial resemblance and new genetic polymorphisms |
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| Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians |
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| Mutation and linkage disequilibrium in human mtDNA |
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| The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation |
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|
| Y-chromosome SNP haplotypes suggest evidence of gene flow among caste, tribe, and the migrant Siddi populations of Andhra Pradesh, South India |
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|
| Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations |
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|
| An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2–q11.2 in a large Turkish pedigree |
|
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|
| Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia |
|
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|
| Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G |
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| Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance |
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|
| Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test? |
|
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|
| Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC |
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|
| Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region |
|
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| Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40 |
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| R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? |
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| Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation |
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| Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V |
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| Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392 |
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| CFTR and asthma in the French EGEA study |
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