| The importance of plasma apolipoprotein E concentration in addition to its common polymorphism on inter-individual variation in lipid levels: results from Apo Europe |
|
|
|
|
|
|
|
|
|
| Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate |
|
|
|
|
|
|
|
|
|
| Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG) |
|
|
|
|
|
|
|
|
|
| Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region |
|
|
|
|
|
|
|
|
|
| New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile |
|
|
|
|
|
|
|
|
|
| Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor |
|
|
|
|
|
|
✓ |
|
French |
| The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever |
|
|
|
|
|
|
|
|
|
| Author index to volume 10 |
|
|
|
|
|
|
|
|
|
| Family-based association tests for quantitative traits using pooled DNA |
|
|
|
|
|
|
|
|
|
| Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy |
|
|
|
|
|
|
|
|
|
| Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders |
|
|
|
|
|
|
|
|
|
| BRCA2 founder mutation in Slovenian breast cancer families |
|
|
|
|
|
|
|
|
|
| Clinical variability in calpainopathy: What makes the difference? |
|
|
|
|
|
|
|
|
|
| Keyword index to volume 10 |
|
|
|
|
|
|
|
|
|
| Is DFNA5 a susceptibility gene for age-related hearing impairment? |
|
|
|
|
|
|
|
|
|
| Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements |
|
|
|
|
|
|
|
|
|
| Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos |
|
|
|
|
|
|
|
|
|
| Erratum: De novo mutations in familial adenomatous polyposis (FAP) |
|
|
|
|
|
|
|
|
|
| European-wide opposition against the breast cancer gene patents |
|
|
|
|
✓ |
|
|
|
European-wide |
| Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period |
|
|
|
|
|
|
|
|
|
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis |
|
|
|
|
|
|
|
|
|
| Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis |
|
|
|
|
|
|
|
|
|
| CFTR gene mutations in sarcoidosis |
|
|
|
|
|
|
|
|
|
| Cardiovascular Genetics for Clinicians |
|
|
|
|
|
|
|
|
|
| Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations |
|
|
|
|
|
|
|
|
|
| Prenatal testing for Huntington's disease: a European collaborative study |
|
|
|
|
|
|
|
|
|
| Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males |
|
|
|
|
|
|
|
|
|
| Detection of putative functional angiotensinogen (AGT) gene variants controlling plasma AGT levels by combined segregation-linkage analysis |
|
|
|
|
|
|
|
|
|
| Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) |
|
|
|
|
|
|
|
|
|
| Marfan syndrome in the third Millennium |
|
|
|
|
|
|
|
|
|
| Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome |
|
|
|
|
|
|
|
|
|
| Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature |
|
|
|
|
|
|
|
|
|
| Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype |
|
|
|
|
|
|
|
|
|
| A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation |
|
|
|
|
|
|
|
|
|
| An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome |
|
|
|
|
|
|
|
|
|
| Diagnosis of Hb-pathies |
|
|
|
|
|
|
|
|
|
| Time to take epigenetic inheritance seriously |
|
|
|
|
|
|
|
|
|
| High resolution mapping of quantitative trait loci by linkage disequilibrium analysis |
|
|
|
|
|
|
|
|
|
| Demographics of the UK cystic fibrosis population: implications for neonatal screening |
|
|
|
|
|
|
|
|
|
| Parametric and non-parametric linkage analysis of several candidate regions for genes for human handedness |
|
|
|
|
|
|
|
|
|
| Increased frequency of the homozygous II ACE genotype in Italian Olympic endurance athletes |
|
|
|
|
|
|
|
|
|
| De novo mutations in familial adenomatous polyposis (FAP) |
|
|
|
|
|
|
|
|
|
| Testing for BRCA1 mutations: a cost-effectiveness analysis |
|
|
|
|
|
|
|
|
|
| The impact of genotyping error on haplotype reconstruction and frequency estimation |
|
|
|
|
|
|
|
|
|
| A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate |
|
|
|
|
|
|
|
|
|
| Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients |
|
|
|
|
|
|
|
|
|
| DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG) |
|
|
|
|
|
|
|
|
|
| Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients |
|
|
|
|
|
|
|
|
|
| Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG |
|
|
|
|
|
|
|
|
|
| Comment on ‘increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos’ |
|
|
|
|
|
|
|
|
|
| Reply to ‘MTHFR C677T and A1298C polymorphisms and mutated sequences occurring in cis’ |
|
|
|
|
|
|
|
|
|
| Preimplantation genetic diagnosis for Huntington's disease with exclusion testing |
|
|
|
|
|
|
|
|
|
| New initiatives from EJHG, ESHG and Nature Publishing Group |
|
|
|
|
|
|
|
|
|
| X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1) |
|
|
|
|
|
|
|
|
|
| Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI) |
|
|
|
|
|
|
|
|
|
| Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin) |
|
|
|
|
|
|
|
|
|
| Emery-Dreifuss muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy |
|
|
|
|
|
|
|
|
|
| Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759 |
|
|
|
|
|
|
|
|
|
| Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay |
|
|
|
|
|
|
|
|
|
| The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3 |
|
|
|
|
|
|
|
|
|
| Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons |
|
|
|
|
|
|
|
|
|
| Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation |
|
|
|
|
|
|
|
|
|
| A centenarian-only approach for assessing gene–gene interaction in human longevity |
|
|
|
|
|
|
|
|
|
| An evaluation of the variance components approach: type I error, power and size of the estimated effect |
|
|
|
|
|
|
|
|
|
| 4th International Meeting on Single Nucleotide Polymorphism and Complex Genome AnalysisVarious Uses for DNA Variations |
|
|
|
|
|
|
|
|
|
| The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever |
|
|
|
|
|
|
|
|
|
| Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations? |
|
|
|
|
|
|
|
|
|
| A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking |
|
|
|
|
|
|
|
|
|
| Inherited and de novo mutations in sporadic cases of DYT1-dystonia |
|
|
|
|
|
|
|
|
|
| MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder |
|
|
|
|
|
|
|
|
|
| Succinate dehydrogenase and human diseases: new insights into a well-known enzyme |
|
|
|
|
|
|
|
|
|
| Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Analysis of alterations of WFDC1, a new putative tumour suppressor gene, in hepatocellular carcinoma |
|
|
|
|
|
|
|
|
|
| Positive association to IgE levels and a physical map of the 13q14 atopy locus |
|
|
|
|
|
|
|
|
|
| Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11 |
|
|
|
|
|
|
|
|
|
| European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder |
|
|
|
|
✓ |
|
|
|
European combined analysis |
| Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders |
|
|
|
|
|
|
|
|
|
| Guidelines for the appropriate use of genetic tests in infertile couples |
|
|
|
|
|
|
|
|
|
| Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians |
|
|
|
|
|
|
|
|
|
| A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene |
|
|
|
|
|
|
|
|
|
| Comparison of family based haplotype methods using intragenic SNPs in candidate genes |
|
|
|
|
|
|
|
|
|
| Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the β globin gene |
|
|
|
|
|
|
|
|
|
| Combined segregation and linkage analysis of HLA markers in familial psoriasis |
|
|
|
|
|
|
|
|
|
| A complex DNA-repeat structure within the Selenoprotein P promoter contains a functionally relevant polymorphism and is genetically unstable under conditions of mismatch repair deficiency |
|
|
|
|
|
|
|
|
|
| The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome |
|
|
|
|
|
|
|
|
|
| Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations |
|
|
|
|
|
|
|
|
|
| Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia |
|
|
|
|
|
|
|
|
|
| Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population |
|
|
|
|
|
|
✓ |
|
French Canadian population |
| Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands |
|
|
|
|
|
|
|
|
|
| Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q |
|
|
|
|
|
|
|
|
|
| Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees |
|
|
|
|
|
|
|
|
|
| C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy |
|
|
|
|
|
|
|
|
|
| Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis |
|
|
|
|
|
|
|
|
|
| A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele |
|
|
|
|
|
|
|
|
|
| The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss |
|
|
|
|
|
|
|
|
|
| WFS1 mutations in Spanish patients with diabetes mellitus and deafness |
|
|
|
|
|
|
|
|
|
| Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP |
|
|
|
|
|
|
|
|
|
| Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD) |
|
|
|
|
|
|
|
|
|
| Connexin 26 mutations in cases of sensorineural deafness in eastern Austria |
|
|
|
|
|
|
|
|
|
| MECP2 gene mutation analysis in Chinese patients with Rett syndrome |
|
|
|
|
|
|
|
|
|
| Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina |
|
|
|
|
|
|
|
|
|
| Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma |
|
|
|
|
|
|
|
|
|
| Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects |
|
|
|
|
|
|
|
|
|
| USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses |
|
|
|
|
|
|
|
|
|
| Both common and unique susceptibility genes in different rat strains with pristane-induced arthritis |
|
|
|
|
|
|
|
|
|
| Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes |
|
|
|
|
|
|
|
|
|
| Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms |
|
|
|
|
|
|
|
|
|
| Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies |
|
|
|
|
|
|
|
|
|
| Low frequency of MECP2 mutations in mentally retarded males |
|
|
|
|
|
|
|
|
|
| A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia |
|
|
|
|
|
|
|
|
|
| Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan |
|
|
|
|
|
|
|
|
|
| The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited |
|
|
|
|
|
|
|
|
|
| A genome scan for loci influencing anti-atherogenic serum bilirubin levels |
|
|
|
|
|
|
|
|
|
| Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia |
|
|
|
|
|
|
|
|
|
| Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations |
|
|
|
|
|
|
|
|
|
| Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes |
|
|
|
|
|
|
|
|
|
| High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activity |
|
|
|
|
|
|
|
|
|
| Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6 |
|
|
|
|
|
|
|
|
|
| Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia |
|
|
|
|
|
|
|
|
|
| Relation between tumour necrosis factor polymorphism TNFα-308 and risk of asthma |
|
|
|
|
|
|
|
|
|
| BRCA mutations in Italian breast/ovarian cancer families |
|
|
|
|
|
|
✓ |
|
Italian |
| Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling |
|
|
|
|
|
|
|
|
|
| A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? |
|
|
|
|
|
|
|
|
|
| A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus |
|
|
|
|
|
|
|
|
|
| Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos |
|
|
|
|
|
|
|
|
|
| DNA methylation, imprinting and cancer |
|
|
|
|
|
|
|
|
|
| Optimal selection strategies for QTL mapping using pooled DNA samples |
|
|
|
|
|
|
|
|
|
| Leigh disease associated with a novel mitochondrial DNA ND5 mutation |
|
|
|
|
|
|
|
|
|
| A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34 |
|
|
|
|
|
|
|
|
|
| Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study |
|
|
|
|
|
|
|
|
|
| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe |
|
|
|
|
|
|
|
|
|
| Hirschsprung associated GDNF mutations do not prevent RET activation |
|
|
|
|
|
|
|
|
|
| Determination of the relative contribution of three genes–the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor ge |
|
|
|
|
|
|
|
|
|
| A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus |
|
|
|
|
|
|
|
|
|
| Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles |
|
|
|
|
|
|
|
|
|
| Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22 |
|
|
|
|
|
|
|
|
|
| Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a chinese kindred |
|
|
|
|
|
|
✓ |
|
chinese |
| Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6 |
|
|
|
|
|
|
|
|
|
| Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family |
|
|
|
|
|
|
|
|
|
| Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene |
|
|
|
|
|
|
|
|
|
| Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032) |
|
|
|
|
|
|
|
|
|