| Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia |
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| Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study |
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| MYO7A mutation screening in Usher syndrome type I patients from diverse origins |
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| CORRECTION |
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| CORRECTION |
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| A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease |
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| Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's disease |
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| A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres |
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| New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy |
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| Mutations in PLA2G6 and the riddle of Schindler disease |
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| Is -T catenin (VR22) an Alzheimer's disease risk gene? |
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| Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women |
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| Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1 |
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| 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients |
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| Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis |
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| Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease |
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| Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer |
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| Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population |
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✓ |
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Italian population |
| Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia |
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| A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family |
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| Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk |
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| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients |
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| Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outc |
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| Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes |
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| Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 |
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| Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II |
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| Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene |
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✓ |
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Spanish |
| A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer |
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| Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening |
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| Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) |
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| Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations |
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| Iron genes, iron load and risk of Alzheimer's disease |
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| A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23 |
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✓ |
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Moroccan Jews |
| Angiotensinogen and transforming growth factor 1: novel genes in the pathogenesis of Crohn's disease |
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| Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study |
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| Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds |
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| Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome |
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| A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere |
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| Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion |
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| Ultra-high resolution array painting facilitates breakpoint sequencing |
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| An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism |
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| Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations |
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| Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes |
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| The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome |
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| Development of a genotyping microarray for Usher syndrome |
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| The contribution of germline rearrangements to the spectrum of BRCA2 mutations |
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| Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation |
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| Genomewide scans of red cell indices suggest linkage on chromosome 6q23 |
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| Methylation analysis of KvDMR1 in human oocytes |
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| IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease |
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| Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy |
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| A novel mutation in the mitochondrial tRNASer(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency |
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| Measurement of mRNA of trophoblast-specific genes in cellular and plasma components of maternal blood |
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| The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis |
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| Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats |
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| Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer |
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| Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation |
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| Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents |
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| Clinical features in a family with an R460H mutation in transforming growth factor receptor 2 gene |
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| Genetic predictors for acute experimental cold and heat pain sensitivity in humans |
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| Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region |
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| STK11 status and intussusception risk in Peutz-Jeghers syndrome |
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| Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis |
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| Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey ( |
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✓ |
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European Community Respiratory Health Survey (ECRHS) |
| Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5) |
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| CYP19 haplotypes increase risk for Alzheimer's disease |
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| Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study |
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| Somatic mutations in cardiac malformations |
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| The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children |
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| Three single-nucleotide polymorphisms in LPA account for most of the increase in lipoprotein(a) level elevation in African Americans compared with European Americans |
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✓ |
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✓ |
|
European Americans; African Americans |
| Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders |
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| Schimke immuno-osseous dysplasia: a clinicopathological correlation |
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| Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 |
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| A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families |
✓ |
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| The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region |
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| Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells |
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| New Alzheimer's disease locus on chromosome 8 |
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| Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies |
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| Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis |
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| MDM2 SNP309 accelerates colorectal tumour formation in women |
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| The cardiofaciocutaneous syndrome |
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| Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2 |
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| AMP-kinase 2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women |
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| Polyalanine and polyserine frameshift products in Huntington's disease |
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| Correction |
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| CDH1/E-cadherin germline mutations in early-onset gastric cancer |
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| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB |
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| Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia |
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| Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28 |
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| What you can learn from one gene: GLI3 |
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| A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3 |
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| CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea |
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| Genetic evidence for the role of loci at 19q13 in cleft lip and palate |
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| Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene |
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| The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice |
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| A mutation of the p63 gene in non-syndromic cleft lip |
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| Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency |
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| Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene |
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| Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study |
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| Size bias of fragile X premutation alleles in late-onset movement disorders |
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| A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect |
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✓ |
|
Chinese |
| Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development |
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| Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations |
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| Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour |
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| Very mild cases of Rett syndrome with skewed X inactivation |
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| Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% |
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| Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene |
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| Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome |
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| SMAD4 mutations found in unselected HHT patients |
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| Predicting disease genes using protein-protein interactions |
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| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients |
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| Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation |
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| High incidence of SHOX anomalies in individuals with short stature |
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| Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer |
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| The molecular genetics of Marfan syndrome and related disorders |
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| Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course |
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| Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome |
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| Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1 |
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| Cerebral cavernous malformation: new molecular and clinical insights |
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| Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection |
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| X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene |
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| Tissue specific distribution of the 3243A->G mtDNA mutation |
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| Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports |
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| Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants |
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| Mutations of human TMHS cause recessively inherited non-syndromic hearing loss |
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| Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder |
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| Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients |
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| A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome |
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| Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome |
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| Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region |
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| Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome |
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| Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation |
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| Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities |
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| Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype |
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| Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations |
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| MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability |
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| A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history |
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| Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2 |
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| Increased risk of cancer in patients with fumarate hydratase germline mutation |
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| Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly |
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