| Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms |
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| Correction: no evidence of an association between the T16189C mtDNA variant and late onset dementia (Gibson et al) |
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| The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis |
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| Mutation in PITX2 is associated with ring dermoid of the cornea |
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| SCAMP: a spreadsheet to collate autozygosity mapping projects |
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| Human Evolutionary Genetics: Origins, Peoples & Disease |
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| Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation |
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| Statistical Methods in Genetic Epidemiology |
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| Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8 |
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| No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia |
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| Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease |
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✓ |
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|
the European genetic study of Parkinson's disease |
| Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension |
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| A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation |
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| Parkinsonism among Gaucher disease carriers |
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| Ocular coloboma: a reassessment in the age of molecular neuroscience |
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| A protein truncating BRCA1 allele with a low penetrance of breast cancer |
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| Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism |
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| Molecular karyotyping using an SNP array for genomewide genotyping |
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| Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation |
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| Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) |
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| NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome |
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| A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesio |
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| Correction |
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| Detection of aneuploidies by paralogous sequence quantification |
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| Genetics of the FANCA gene in familial pancreatic cancer |
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| Correction |
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| Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element |
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| Missense mutations of ACTA1 cause dominant congenital myopathy with cores |
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| Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK |
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| Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, Colorado |
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✓ |
|
Hispanic American population |
| FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients |
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| A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3 |
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| TLR4 and TNF- polymorphisms are associated with an increased risk for severe sepsis following burn injury |
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| Neurofibromatous neuropathy in neurofibromatosis 1 (NF1) |
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| Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility |
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| A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21 |
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| PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience |
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| No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia |
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|
✓ |
|
consanguineous Arab family |
| Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis |
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| Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans |
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| A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15 |
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| The ser9gly SNP in the dopamine D3 receptor causes a shift from cAMP related to PGE2 related signal transduction mechanisms in transfected CHO cells |
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| Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion |
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| Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers |
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| Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index |
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| Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant |
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| Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians |
✓ |
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| Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is protective against coronary heart disease |
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| A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. |
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|
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| A novel PHF6 mutation results in enhanced exon skipping and mild Borjeson-Forssman-Lehmann syndrome |
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| A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27 |
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| Mutations of the mitochondrial ND1 gene as a cause of MELAS |
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| Recent advances in understanding haemochromatosis: a transition state |
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| POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease |
|
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| Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes |
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| Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males |
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| Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction |
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| Identification of the gene for Nance-Horan syndrome (NHS) |
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| OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract |
|
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| Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease |
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|
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| An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma |
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|
|
| Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures |
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| Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome |
|
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|
|
| Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2 |
|
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|
|
| Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes |
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| The genetics of strabismus |
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| Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family |
|
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| Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map |
|
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|
|
| Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 |
|
|
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|
|
| A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9) |
|
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|
|
| SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism |
|
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|
|
| CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma |
|
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|
|
| Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults |
|
|
✓ |
|
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|
|
| BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing |
|
|
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|
|
| Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer |
|
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|
|
| Robin M Winter--a colleagues' perspective |
|
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|
| Robin M Winter |
|
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| Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease |
|
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|
|
| Clinical features of type 2 Stickler syndrome |
|
|
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|
|
| Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) |
|
|
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|
|
|
|
| A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood |
|
|
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|
|
| Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype |
|
|
|
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|
|
| Correction |
|
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|
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|
|
| Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome |
|
|
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|
|
| Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction |
|
|
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|
|
| Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China |
|
|
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|
|
| A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1 |
|
|
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|
|
| The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder |
|
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|
✓ |
|
|
|
Indo-European founder |
| Correction |
|
|
|
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|
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|
|
| Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease |
|
|
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|
|
| A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR |
|
|
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|
|
| Corneal dystrophies and degenerations: a molecular genetics approach |
|
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|
|
| Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum |
|
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|
|
| Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations |
|
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|
|
| Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues |
|
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|
|
| Nucleotide and protein expansions and human disease |
|
|
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|
|
|
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|
|
| A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus |
|
|
|
|
|
|
|
|
|
| A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance |
|
|
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|
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|
|
| Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G) |
|
|
|
|
|
|
|
|
|
| Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss |
|
|
|
|
|
|
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|
|
| The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features |
|
|
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|
|
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|
|
| Variation in dinucleotide (GT) repeat sequence in the first exon of the STAT6 gene is associated with atopic asthma and differentially regulates the promoter activity in vitro |
|
|
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|
|
|
|
|
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation |
|
|
|
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|
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|
|
| Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) |
|
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|
|
| Methodology in longitudinal studies on psychological effects of predictive DNA testing: a review |
|
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|
|
| Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival |
|
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|
|
| SEMA3E mutation in a patient with CHARGE syndrome |
|
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|
|
| Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma |
|
|
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|
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|
|
| Association of the connexin36 gene with juvenile myoclonic epilepsy |
|
|
|
|
|
|
|
|
|
| Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene |
|
|
|
|
|
|
|
|
|
| The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations |
|
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|
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|
|
| Keratin 8 Y54H and G62C mutations are not associated with liver disease |
|
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|
|
| Correction |
|
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|
|
| A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome |
|
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|
|
| Met>Val substitution in a highly conserved region of the pro- 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype |
|
|
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|
|
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|
|
| FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour |
|
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|
|
| Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2 |
|
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|
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|
|
| Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations |
|
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|
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|
|
| Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H |
|
|
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|
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|
|
| Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta |
|
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|
|
| Effects of a cancer genetics education programme on clinician knowledge and practice |
|
|
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|
|
| Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria |
|
|
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|
|
|
|
|
| A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family |
|
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|
|
| Genetic aetiology of diffuse gastric cancer: so near, yet so far |
|
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|
|
| Genetic susceptibility in familial melanoma from northeastern Italy |
|
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|
|
| Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome |
|
|
|
|
|
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|
|
| Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms |
|
|
|
|
|
|
|
|
|
| Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia |
|
|
|
|
|
|
|
|
|
| A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome |
|
|
|
|
|
|
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|
|
| Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family |
|
|
|
|
|
|
|
|
|
| Haplotype analysis of human AMPD1 gene: origin of common mutant allele |
|
|
|
|
|
|
|
|
|
| A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation |
|
|
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|
|
|
|
|
|
| Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations |
|
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|
|
|
|
|
|
|
| Genetic influences on the circulating cytokines involved in osteoclastogenesis |
|
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|
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|
|
| Evidence of differing genotypic effects of PPAR in women and men |
|
|
|
|
|
|
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|
|
| Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases |
|
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|
|
|
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|
|
| Broader geographical spectrum of Cohen syndrome due to COH1 mutations |
|
|
|
|
|
|
|
|
|
| P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome |
|
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|
|
|
|
|
| Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene |
|
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|
|
|
|
| DFNA5: hearing impairment exon instead of hearing impairment gene? |
|
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|
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|
|
| A germline mutation in KIT in familial diffuse cutaneous mastocytosis |
|
|
|
|
|
|
|
|
|
| Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 |
|
|
|
|
|
|
|
|
|
| Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients |
|
|
|
|
|
|
✓ |
|
German |
| An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion |
|
|
|
|
|
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|
|
| A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia |
|
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|
|
| Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption |
|
|
|
|
|
|
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|
|
| Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling |
|
|
|
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|
|
| Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes |
|
|
|
|
|
|
|
|
|
| 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C->T and 1298A->C mutations are associated with DNA hypomethylation |
|
|
|
|
|
|
|
|
|
| Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer |
|
|
|
|
|
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|
|
| Familial X/Y translocations associated with variable sexual phenotype |
|
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|
|
| Estimating the age of rare disease mutations: the example of Triple-A syndrome |
|
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|
|
| A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO |
|
|
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|
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|
|
| Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis |
|
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|
|
| High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation |
|
|
|
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|
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|
|
| A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24 |
|
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|
|
|
|
|
| Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome |
|
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| Prospective risk of cancer in CDKN2A germline mutation carriers |
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| CORRECTION |
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| Genotype-phenotype correlations in Peutz-Jeghers syndrome |
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| Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile? |
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| Significant involvement of CCR2-64I and CXCL12-3a in the development of sporadic breast cancer |
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| Functional dimorphism of two hAgRP promoter SNPs in linkage disequilibrium |
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| Glutathione S-transferase M1, T1 status and the risk of head and neck cancer: a meta-analysis |
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| Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome |
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| A variant form of hMTH1, a human homologue of the E coli mutT gene, correlates with somatic mutation in the p53 tumour suppressor gene in gastric cancer patients |
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| The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel |
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| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome |
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| PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome |
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| Cardiovascular genetics: are we there yet? |
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| Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis |
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| Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population |
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✓ |
|
Chinese Han population |
| MDR1, the blood-brain barrier transporter, is associated with Parkinson's disease in ethnic Chinese |
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✓ |
|
ethnic Chinese |
| LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome |
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| Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation |
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| Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome |
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| Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1 |
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| Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation |
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| Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia |
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| FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly |
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| Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD |
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| Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation |
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| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome |
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| Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis |
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| Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis |
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| Familial renal cell cancer appears to have a recessive component |
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| Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome |
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| Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes |
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| Inhibin -subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers |
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| FRG1P is localised in the nucleolus, Cajal bodies, and speckles |
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| Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients |
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| A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders |
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| Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes |
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| Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III |
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| Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic feat |
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| Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes |
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| Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism |
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| Absence of BRAF mutations in UV-protected mucosal melanomas |
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| DBH gene variants that cause low plasma dopamine � hydroxylase with or without a severe orthostatic syndrome |
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| Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain |
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| Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6) |
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| Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay |
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| A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 |
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| Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal |
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| Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations |
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| Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy |
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| Isolated congenital anosmia locus maps to 18p11.23-q12.2 |
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| Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease |
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| Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes |
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| Primary open angle glaucoma is associated with a specific p53 gene haplotype |
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| No association between a previously reported OLR1 3' UTR polymorphism and Alzheimer's disease in a large family sample |
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| Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population |
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| Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees |
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| A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14 |
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|
| Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome |
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|
|
| Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1 |
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|
|
| Genomic imbalances in mental retardation |
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| Homozygosity mapping of a third Joubert syndrome locus to 6q23 |
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|
|
| FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients |
|
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|
|
| Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype |
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|
| CLCA1 gene polymorphisms in chronic obstructive pulmonary disease |
|
|
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|
|
| Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3 |
|
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|
|
| The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation |
|
|
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|
|
| Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia |
|
|
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|
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|
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|
|
| Extending the p16-Leiden tumour spectrum by respiratory tract tumours |
|
|
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|
|
| Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 |
|
|
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|
|
| Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype |
|
|
✓ |
|
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|
|
| Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC |
|
|
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|
|
| Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP) |
|
|
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|
|
|
|
|
| A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia |
|
|
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|
|
|
|
|
|
| A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability |
|
|
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|
|
|
| A genotype-phenotype correlation for GJB2 (connexin 26) deafness |
|
|
|
|
|
|
|
|
|
| Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction |
|
|
|
|
|
|
|
|
|
| Hepatic lipase C-480T polymorphism modifies the effect of HDL cholesterol on the risk of acute myocardial infarction in men: a prospective population based study |
|
|
|
|
|
|
|
|
|
| Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) |
|
|
|
|
|
|
|
|
|
| Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13 |
|
|
|
|
|
|
|
|
|
| A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21 |
|
|
|
|
|
|
|
|
|
| Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy |
|
|
|
|
|
|
|
|
|
| The performance of CGH array for the detection of cryptic constitutional chromosome imbalances |
|
|
|
|
|
|
|
|
|
| Apolipoprotein E polymorphisms and risk of malaria |
|
|
|
|
|
|
|
|
|
| Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
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|
|
|
|
|
|
| DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function |
|
|
|
|
|
|
|
|
|
| Genetic and epigenetic profile of sporadic pheochromocytomas |
|
|
|
|
|
|
|
|
|
| Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates |
|
|
|
|
|
|
|
|
|
| RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Tetrasomy 21pter->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation |
|
|
|
|
|
|
|
|
|
| Genotype and psychological phenotype in tuberous sclerosis |
|
|
|
|
|
|
|
|
|
| A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 |
|
|
|
|
|
|
|
|
|
| Interleukin-1 cluster is associated with genetic risk for schizophrenia and bipolar disorder |
|
|
|
|
|
|
|
|
|
| BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Akt activation and localisation correlate with tumour invasion and oncogene expression in thyroid cancer |
|
|
|
|
|
|
|
|
|
| The allelic modulation of apolipoprotein E expression by oestrogen: potential relevance for Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Referral for cancer genetics consultation: a review and compilation of risk assessment criteria |
|
|
|
|
|
|
|
|
|
| Mitochondrial DNA deletion in "identical" twin brothers |
|
|
|
|
|
|
|
|
|
| Achromatopsia caused by novel mutations in both CNGA3 and CNGB3 |
|
|
|
|
|
|
|
|
|
| Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis |
|
|
|
|
|
|
|
|
|
| Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure |
|
|
|
|
|
|
|
|
|
| Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 |
|
|
|
|
|
|
|
|
|
| Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families |
|
|
|
|
|
|
|
|
|
| A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci |
|
|
|
|
|
|
|
|
|
| A study of gene-environment interaction on the gene for angiotensin converting enzyme: a combined functional and population based approach |
|
|
|
|
|
|
|
|
|
| MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation |
|
|
|
|
|
|
|
|
|
| Mulibrey nanism: clinical features and diagnostic criteria |
|
|
|
|
|
|
|
|
|
| Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation |
|
|
|
|
|
|
|
|
|
| Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene |
|
|
|
|
|
|
|
|
|
| Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype |
|
|
|
|
|
|
|
|
|
| Loss of five amino acids in BRCA2 is associated with ovarian cancer |
|
|
|
|
|
|
|
|
|
| Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders |
|
|
|
|
|
|
|
|
|
| Psychiatric genetics: methods and reviews |
|
|
|
|
|
|
|
|
|
| Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A |
|
|
|
|
|
|
|
|
|
| Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis |
|
|
|
|
|
|
✓ |
|
Polish |
| Genetic correlation between plasma levels of C4BP isoforms containing chains and susceptibility to thrombosis |
|
|
|
|
|
|
|
|
|
| TBX22 mutations are a frequent cause of cleft palate |
|
|
|
|
|
|
|
|
|
| Refining the phenotype of common mutations in Rett syndrome |
|
|
|
|
|
|
|
|
|
| Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia |
|
|
|
|
|
|
|
|
|
| Cleft lip and palate. From origin to treatment |
|
|
|
|
|
|
|
|
|
| Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type |
|
|
|
|
|
|
|
|
|
| BRCA1 functions as a breast stem cell regulator |
|
|
|
|
|
|
|
|
|
| Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE |
|
|
|
|
|
|
|
|
|
| Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation |
|
|
|
|
|
|
|
|
|
| Induction of instability of normal length trinucleotide repeats within human disease genes |
|
|
|
|
|
|
|
|
|
| Clinical and genetic characteristics of cardiac actin gene mutations in hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes |
|
|
|
|
|
|
|
|
|
| A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population |
|
|
|
|
|
|
|
|
|
| A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3 |
|
|
|
|
|
|
|
|
|
| Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil |
|
|
|
|
|
|
|
|
|
| No evidence of an association between the T16189C mtDNA variant and late onset dementia |
|
|
|
|
|
|
|
|
|
| Missense mutations in the strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly |
|
|
|
|
|
|
|
|
|
| Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC |
|
|
|
|
|
|
|
|
|
| Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders |
|
|
|
|
|
|
|
|
|
| Cancer cytogenetics: methods and protocols |
|
|
|
|
|
|
|
|
|
| Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome |
|
|
|
|
|
|
|
|
|
| Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 |
|
|
|
|
|
|
|
|
|
| A case control and family based association study of the neuregulin1 gene and schizophrenia |
|
|
|
|
|
|
|
|
|
| A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss |
|
|
|
|
|
|
|
|
|
| FRG1P is localised in the nucleolus, Cajal bodies, and speckles |
|
|
|
|
|
|
|
|
|