| The 13042G->A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype |
|
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| AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3 |
|
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| A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3 |
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| No associations of human pulmonary tuberculosis with Sp110 variants |
|
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| CHEK2 I157T associates with familial and sporadic colorectal cancer |
|
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| A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome |
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| Total absence of the 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems |
|
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| Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene |
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| Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation |
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|
| Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome |
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| Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism |
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| CORRECTION |
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| LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome |
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| Oxford desk reference: clinical genetics |
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| Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture |
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|
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| Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1 |
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|
|
| Mutations responsible for Larsen syndrome cluster in the FLNB protein |
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|
|
| Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carci |
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| Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism |
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|
|
| Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome |
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|
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| Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies |
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| An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster |
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| CORRECTION |
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| Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases |
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|
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| A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type |
|
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|
|
| Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function |
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|
|
| Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 |
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|
| Genetic Disorders of the Indian Subcontinent |
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| Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14 |
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|
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| Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese population |
|
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|
|
| Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1 |
|
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|
✓ |
|
Swedish |
| Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome |
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| Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome |
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| Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature |
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|
|
| Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium |
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|
|
| Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes |
|
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|
|
| The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations |
|
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|
✓ |
|
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|
European populations |
| Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus |
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|
| Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases |
|
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|
|
| Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? |
|
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|
|
| High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts |
|
|
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|
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|
|
| Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia |
|
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| Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study |
|
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|
|
| A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract |
|
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|
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|
|
| Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25 |
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|
|
| Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p |
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|
|
| OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele |
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|
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| Advances in genetics: what are the benefits for patients? |
|
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|
|
| Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder |
|
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|
|
| A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes |
|
|
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|
✓ |
|
Gypsy |
| Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs |
|
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|
|
| CORRECTION |
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|
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|
|
| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology |
|
|
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|
|
|
|
|
|
| Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease) |
|
|
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|
|
|
|
|
|
| Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa |
|
|
|
|
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|
|
| Genetics for Pediatricians |
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|
|
| CORRECTION |
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|
|
| Medical genetics |
|
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|
|
| Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families |
|
|
|
|
|
|
|
|
|
| Genetics of skin appendage neoplasms and related syndromes |
|
|
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|
|
| Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients |
|
|
|
|
|
|
|
|
|
| Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions |
|
|
|
|
|
|
|
|
|
| The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor |
|
|
|
|
|
|
|
|
|
| An empirical comparison of case-control and trio based study designs in high throughput association mapping |
|
|
|
|
|
|
|
|
|
| Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain |
|
|
|
|
|
|
|
|
|
| Phenotype of triploid embryos |
|
|
|
|
|
|
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|
|
| Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience |
|
|
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|
|
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|
|
| Natural history of Fabry disease in females in the Fabry Outcome Survey |
|
|
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|
|
|
|
|
|
| Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes |
|
|
|
|
|
|
|
|
|
| Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status |
|
|
|
|
|
|
|
|
|
| Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes |
|
|
|
|
|
|
|
|
|
| Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases |
|
|
|
|
|
|
|
|
|
| An SNP in protamine 1: a possible genetic cause of male infertility? |
|
|
|
|
|
|
|
|
|
| Prenatal detection of unbalanced chromosomal rearrangements by array CGH |
|
|
|
|
|
|
|
|
|
| Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate |
|
|
|
|
|
|
|
|
|
| Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not |
|
|
|
|
|
|
|
|
|
| Interaction between the -T catenin gene (VR22) and APOE in Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| The HNPCC associated MSH2*1906G->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) |
|
|
|
|
|
|
|
|
|
| Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases |
|
|
|
|
|
|
|
|
|
| Large genomic deletions inactivate the BRCA2 gene in breast cancer families |
|
|
|
|
|
|
|
|
|
| Phenylketonuria screening registry as a resource for population genetic studies |
|
|
|
|
|
|
|
|
|
| Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling |
|
|
|
|
|
|
|
|
|
| The oestrogen receptor gene is linked and/or associated with age of menarche in different ethnic groups |
|
|
|
|
|
|
|
|
|
| The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC) |
|
|
|
|
|
|
|
|
|
| Splicing in action: assessing disease causing sequence changes |
|
|
|
|
|
|
|
|
|
| Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients |
|
|
|
|
|
|
|
|
|
| ETHE1 mutations are specific to ethylmalonic encephalopathy |
|
|
|
|
|
|
|
|
|
| The distribution of apolipoprotein E alleles in Scottish perinatal deaths |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development |
|
|
|
|
|
|
|
|
|
| Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH |
|
|
|
|
|
|
|
|
|
| Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia |
|
|
|
|
|
|
|
|
|
| The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene |
|
|
|
|
|
|
|
|
|
| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene |
|
|
|
|
|
|
|
|
|
| Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes |
|
|
|
|
|
|
|
|
|
| AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome |
|
|
|
|
|
|
|
|
|
| Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes |
|
|
|
|
|
|
|
|
|
| Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 |
|
|
|
|
|
|
|
|
|
| Cancer risks in BRCA2 families: estimates for sites other than breast and ovary |
|
|
|
|
|
|
|
|
|
| Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification |
|
|
|
|
|
|
|
|
|
| Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma |
|
|
|
|
|
|
|
|
|
| Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) |
|
|
|
|
|
|
|
|
|
| Collagen VI related muscle disorders |
|
|
|
|
|
|
|
|
|
| ASPM mutations identified in patients with primary microcephaly and seizures |
|
|
|
|
|
|
|
|
|
| Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans |
|
|
|
|
|
|
|
|
|
| Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) |
|
|
|
|
|
|
|
|
|
| Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study |
|
|
|
|
|
|
|
|
|
| The MDM2 promoter polymorphism SNP309T->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck |
|
|
|
|
|
|
|
|
|
| Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations |
|
|
|
|
|
|
|
|
|
| Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the chain globular domain impairing fibrinogen secretion |
|
|
|
|
|
|
|
|
|
| Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins |
|
|
|
|
|
|
|
|
|
| X linked mental retardation: a clinical guide |
|
|
|
|
|
|
|
|
|
| Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment |
|
|
|
|
|
|
|
|
|
| Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene |
|
|
|
|
|
|
|
|
|
| Directly transmitted unbalanced chromosome abnormalities and euchromatic variants |
|
|
|
|
|
|
|
|
|
| Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain |
|
|
|
|
|
|
|
|
|
| Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer |
|
|
|
|
|
|
|
|
|
| Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus |
|
|
|
|
|
|
|
|
|
| In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients |
|
|
|
|
|
|
|
|
|
| Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries |
|
|
|
|
|
|
|
|
|
| Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 |
|
|
|
|
|
|
|
|
|
| Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms |
|
|
|
|
|
|
|
|
|
| Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X |
|
|
|
|
|
|
|
|
|
| Arteriovenous malformations in Cowden syndrome |
|
|
|
|
|
|
|
|
|
| Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| Analysis of the entire HLA region in susceptibility for cervical cancer: a comprehensive study |
|
|
|
|
|
|
|
|
|
| cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma |
|
|
|
|
|
|
|
|
|
| Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism |
|
|
|
|
|
|
|
|
|
| RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases |
|
|
|
|
|
|
|
|
|
| Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition |
|
|
|
|
|
|
|
|
|
| Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences |
|
|
|
|
|
|
|
|
|
| Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation |
|
|
|
|
|
|
|
|
|
| Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus |
|
|
|
|
|
|
|
|
|
| Congenital hyperinsulinism and mosaic abnormalities of the ploidy |
|
|
|
|
|
|
|
|
|
| Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability |
|
|
|
|
|
|
|
|
|
| The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation |
|
|
|
|
|
|
|
|
|
| Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update |
|
|
|
|
|
|
|
|
|
| Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral |
|
|
|
|
|
|
|
|
|
| Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype? |
|
|
|
|
|
|
|
|
|
| A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2 |
|
|
|
|
|
|
|
|
|
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions |
|
|
|
|
|
|
|
|
|
| Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation |
|
|
|
|
|
|
✓ |
|
Spanish family |
| Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient |
|
|
|
|
|
|
|
|
|
| Association of two tumour necrosis factor gene polymorphisms with the incidence of severe intraventricular haemorrhage in preterm infants |
|
|
|
|
|
|
|
|
|
| Is the Ala12 variant of the PPARG gene an "unthrifty allele"? |
|
|
|
|
|
|
|
|
|
| BRCA1 mutation and neuronal migration defect: implications for chemoprevention |
|
|
|
|
|
|
|
|
|
| A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5 |
|
|
|
|
|
|
|
|
|
| Cloned fusion product from a rare t(15;19)(q13.2;p13.1) inhibit S phase in vitro |
|
|
|
|
|
|
|
|
|
| Mutations in FLNB cause boomerang dysplasia |
|
|
|
|
|
|
|
|
|
| Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) |
|
|
|
|
|
|
|
|
|
| Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families |
|
|
|
|
|
|
|
|
|
| Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits |
|
|
|
|
|
|
|
|
|
| The genetic and molecular bases of monogenic disorders affecting proteolytic systems |
|
|
|
|
|
|
|
|
|
| The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 |
|
|
|
|
|
|
|
|
|
| STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker |
|
|
|
|
|
|
|
|
|
| Update on the Manchester Scoring System for BRCA1 and BRCA2 testing |
|
|
|
|
|
|
|
|
|
| A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C |
|
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|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies |
|
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|
|
|
|
|
|
| A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4 |
|
|
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|
|
|
|
|
|
| Melanocortin-1 receptor gene variants affect pain and -opioid analgesia in mice and humans |
|
|
|
|
|
|
|
|
|
| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment |
|
|
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|
|
|
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|
|
| Transmission of mutant alleles to female offspring of BRCA1 carriers in Poland |
|
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|
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|
|
|
|
| Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population |
|
|
|
|
|
|
✓ |
|
Thai population |
| Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents |
|
|
|
|
|
|
|
|
|
| Breakpoints around the HOXD cluster result in various limb malformations |
|
|
|
|
|
|
|
|
|
| Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma |
|
|
|
|
|
|
|
|
|
| Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter |
|
|
|
|
|
|
|
|
|
| Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women |
|
|
✓ |
|
|
|
|
|
|
| Sequence variation in mitochondrial complex I genes: mutation or polymorphism? |
|
|
|
|
|
|
|
|
|
| Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene |
|
|
|
|
|
|
|
|
|
| A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12 |
|
|
|
|
|
|
|
|
|
| The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction |
|
|
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|
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|
|
|
|
| The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis |
|
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|
|
|
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|
|
| Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH |
|
|
|
|
|
|
|
|
|
| Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene |
|
|
|
|
|
|
|
|
|
| Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes |
|
|
|
|
|
|
|
|
|
| Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma |
|
|
|
|
|
|
|
|
|
| Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer |
|
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|
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|
|
|
|
| Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome |
|
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|
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|
|
|
| Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment |
|
|
|
|
|
|
|
|
|
| CBP truncating mutations in ovarian cancer |
|
|
|
|
|
|
|
|
|
| Genetics of familial intrahepatic cholestasis syndromes |
|
|
|
|
|
|
|
|
|
| Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study |
|
|
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|
|
|
|
|
|
| TNF and IL10 SNPs act together to predict disease behaviour in Crohn's disease |
|
|
|
|
|
|
|
|
|
| Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer |
|
|
|
|
|
|
|
|
|
| Murine candidate bleomycin induced pulmonary fibrosis susceptibility genes identified by gene expression and sequence analysis of linkage regions |
|
|
|
|
|
|
|
|
|
| The gr/gr deletion(s): a new genetic test in male infertility? |
|
|
|
|
|
|
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|
|
| Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype |
|
|
|
|
|
|
|
|
|
| Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation |
|
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|
|
|
|
|
|
|
| Mutations in hepatocyte nuclear factor-1 and their related phenotypes |
|
|
|
|
|
|
|
|
|
| Interleukin 12 gene polymorphisms enhance gastric cancer risk in H pylori infected individuals |
|
|
|
|
|
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|
|
| VEGF polymorphisms and severity of atherosclerosis |
|
|
|
|
|
|
|
|
|
| A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families |
|
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|
|
|
|
|
|
| Divergent phenotypes in Gaucher disease implicate the role of modifiers |
|
|
|
|
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|
|
|
|
| Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy |
|
|
|
|
|
|
✓ |
|
East Asian and Middle Eastern |
| X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients |
|
|
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|
|
|
|
|
|
| Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
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|
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|
|
| Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections |
|
|
|
|
|
|
|
|
|
| A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21 |
|
|
|
|
|
|
|
|
|
| Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia |
|
|
|
|
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|
|
|
|
| Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo |
|
|
|
|
|
|
|
|
|
| Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage |
|
|
|
|
|
|
|
|
|
| Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants |
|
|
|
|
|
|
|
|
|
| Skewed X chromosome inactivation and early-onset breast cancer |
|
|
|
|
|
|
|
|
|
| More evidence for non-maternal inheritance of mitochondrial DNA? |
|
|
|
|
|
|
|
|
|
| Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family |
|
|
|
|
|
|
|
|
|
| Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations |
|
|
|
|
|
|
|
|
|
| POMT2 mutations cause -dystroglycan hypoglycosylation and Walker-Warburg syndrome |
|
|
|
|
|
|
|
|
|
| Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment |
|
|
|
|
|
|
|
|
|
| Nine unknown rearrangements in 16p13.3 and 11p15.4 causing - and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification |
|
|
|
|
|
|
|
|
|
| Global analysis of uniparental disomy using high density genotyping arrays |
|
|
|
|
|
|
|
|
|
| Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease |
|
|
|
|
|
|
|
|
|
| Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype |
|
|
|
|
|
|
|
|
|
| A common variant of CDKN2A (p16) predisposes to breast cancer |
|
|
|
|
|
|
|
|
|
| High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer |
|
|
|
|
|
|
|
|
|
| Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families |
|
|
|
|
|
|
|
|
|
| Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects |
|
|
|
|
|
|
|
|
|
| Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy |
|
|
|
|
|
|
|
|
|
| Genetics of congenital hypothyroidism |
|
|
|
|
|
|
|
|
|
| Identification of discrete chromosomal deletion by binary recursive partitioning of microarray differential expression data |
|
|
|
|
|
|
|
|
|
| A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter |
|
|
|
|
|
|
|
|
|
| STK11 genotyping and cancer risk in Peutz-Jeghers syndrome |
|
|
|
|
|
|
|
|
|
| Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits |
|
|
|
|
|
|
|
|
|
| Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart |
|
|
|
|
|
|
|
|
|
| Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy |
|
|
|
|
|
|
|
|
|
| BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder |
|
|
|
|
|
|
✓ |
|
Jewish |
| Genetics of the polymicrogyria syndromes |
|
|
|
|
|
|
|
|
|
| Evidence of an association between genetic variation of the coactivator PGC-1 and obesity |
|
|
|
|
|
|
|
|
|
| Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism |
|
|
|
|
|
|
|
|
|
| Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? |
|
|
|
|
|
|
|
|
|
| Is maternal duplication of 11p15 associated with Silver-Russell syndrome? |
|
|
|
|
|
|
|
|
|
| Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency |
|
|
|
|
|
|
|
|
|
| Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2 |
|
|
|
|
|
|
|
|
|
| Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2 |
|
|
|
|
|
|
|
|
|
| Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10 |
|
|
|
|
|
|
|
|
|
| Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer |
|
|
|
|
|
|
|
|
|
| A male-specific quantitative trait locus on 1p21 controlling human stature |
|
|
|
|
|
|
|
|
|
| A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus |
|
|
|
|
|
|
|
|
|
| Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero |
|
|
|
|
|
|
|
|
|
| A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies |
|
|
|
|
|
|
|
|
|
| Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations |
|
|
|
|
|
|
|
|
|
| Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect |
|
|
|
|
|
|
|
|
|
| Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples |
|
|
|
|
|
|
|
|
|
| Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome |
|
|
|
|
|
|
|
|
|
| Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly |
|
|
|
|
|
|
|
|
|
| DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome |
|
|
|
|
|
|
|
|
|
| Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts |
|
|
|
|
|
|
|
|
|
| Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys |
|
|
|
|
|
|
|
|
|
| High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent |
|
|
|
|
|
|
|
|
Dutch and Spanish descent |
| No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer |
|
|
|
|
|
|
|
|
|
| Inadvertent diagnosis of male infertility through genealogical DNA testing |
|
|
|
|
|
|
|
|
|
| Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) |
|
|
|
|
|
|
|
|
|
| Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249 |
|
|
|
|
|
|
|
|
|
| Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration |
|
|
|
|
|
|
|
|
|
| Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existen |
|
|
|
|
|
|
|
|
|
| RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions |
|
|
|
|
|
|
|
|
|
| The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts |
|
|
|
|
|
|
|
|
|
| Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians |
|
|
|
|
|
|
|
|
|
| Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and cell failure |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients |
|
|
|
|
|
|
|
|
|
| A missense mutation in the type II hair keratin hHb3 is associated with monilethrix |
|
|
|
|
|
|
|
|
|
| Hereditary Hearing Loss and its Syndromes, 2nd edn |
|
|
|
|
|
|
|
|
|
| Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes |
|
|
|
|
|
|
|
|
|
| Association of oestrogen receptor gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone |
|
|
|
|
|
|
|
|
|
| Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency |
|
|
|
|
|
|
|
|
|
| Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs |
|
|
|
|
|
|
|
|
|
| Vitamin D receptor gene polymorphisms are linked to and associated with adult height |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 |
|
|
|
|
|
|
|
|
|
| MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases |
|
|
|
|
|
|
|
|
|
| Reappraisal of the historical selective pressures for the CCR5- 32 mutation |
|
|
|
|
|
|
|
|
|
| Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey) |
|
|
|
|
|
|
|
|
|
| Association of partial AZFc region deletions with spermatogenic impairment and male infertility |
|
|
|
|
|
|
|
|
|
| Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study |
|
|
|
|
|
|
|
|
|
| Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations |
|
|
|
|
|
|
|
|
|
| Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease |
|
|
|
|
|
|
|
|
|
| The genetics of schizophrenia and bipolar disorder: dissecting psychosis |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
|
|
|
|
|
|
|
| Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy |
|
|
|
|
|
|
|
|
|
| Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects |
|
|
|
|
|
|
|
|
|
| NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders |
|
|
|
|
|
|
|
|
|
| The Journal of medical genetics and open access publishing: to choose or not to choose? |
|
|
|
|
|
|
|
|
|
| Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis |
|
|
|
|
|
|
|
|
|
| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome |
|
|
|
|
|
|
|
|
|
| Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? |
|
|
|
|
|
|
|
|
|
| Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome |
|
|
|
|
|
|
|
|
|
| Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? |
|
|
|
|
|
|
|
|
|
| SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic ent |
|
|
|
|
|
|
|
|
|
| Mutational spectrum of NSDHL in CHILD syndrome |
|
|
|
|
|
|
|
|
|
| Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations |
|
|
|
|
|
|
|
|
|
| The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors |
|
|
|
|
|
|
|
|
|
| A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families |
|
|
|
|
|
|
|
|
|
| Milroy disease and the VEGFR-3 mutation phenotype |
|
|
|
|
|
|
|
|
|
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms |
|
|
|
|
|
|
|
|
|
| Author's reply: link of SCN5A SNP R1193Q to long QT syndrome |
|
|
|
|
|
|
|
|
|
| Non-random transmission of mutant alleles to female offspring in BRCA carriers |
|
|
|
|
|
|
|
|
|
| Mapping of psoriasis to 17q terminus |
|
|
|
|
|
|
|
|
|
| Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population |
|
|
|
|
|
|
|
|
|
| Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour |
|
|
|
|
|
|
|
|
|
| Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect |
|
|
|
|
|
|
|
|
|
| Classification of BRCA1 missense variants of unknown clinical significance |
|
|
|
|
|
|
|
|
|
| Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome |
|
|
|
|
|
|
|
|
|
| R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese |
|
|
|
|
|
|
✓ |
|
Han Chinese |
| Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection |
|
|
|
|
|
|
|
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| A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14 |
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| Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes |
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| Identification of a new locus for isolated familial keratoconus at 2p24 |
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| New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype |
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| An aetiological classification of birth defects for epidemiological research |
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| Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome |
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| A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing |
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| Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation |
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| Evidence for a gene influencing haematocrit on chromosome 6q23-24: genomewide scan in the Framingham Heart Study |
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| Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study |
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| A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma |
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| First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations |
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| A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas |
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| The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes |
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| Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases |
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| A third locus for dominant optic atrophy on chromosome 22q |
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| Rett syndrome: clinical review and genetic update |
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| A full genome scan for gastric cancer |
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| Multiple meningiomas: differential involvement of the NF2 gene in children and adults |
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| The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients |
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