| Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10 |
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| Fertility defects revealing germline biallelic nonsense<i>NBN</i>mutations |
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| How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy |
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| Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 |
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| <i>ATP13A2</i>variability in Parkinson disease |
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| Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the<i>XPD</i>gene |
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| Mechanistic insights into the link between a polymorphism of the 3′UTR of the<i>SLC7A1</i>gene and hypertension |
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| Functional characterization of three<i>CYP21A2</i>sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system |
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| Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing |
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| Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives |
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| A<sub>1</sub>ATVar: a relational database of human<i>SERPINA1</i>gene variants leading to α<sub>1</sub>-antitrypsin deficiency and application of the VariVis software |
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| Genomic deletions of<i>OFD1</i>account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing |
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| Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration |
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| Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene |
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| Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature |
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| Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of<i>COH1</i> |
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| COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome |
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| Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships |
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| Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results |
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| Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes |
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| In silico analysis of missense substitutions using sequence-alignment based methods |
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| Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance |
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| Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications |
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| Genetic evidence and integration of various data sources for classifying uncertain variants into a single model |
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| Prediction and assessment of splicing alterations: implications for clinical testing |
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| Mechanisms of pathogenicity in human<i>MSH2</i>missense mutants |
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| Assessment of functional effects of unclassified genetic variants |
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| Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group |
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| A database to support the interpretation of human mismatch repair gene variants |
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| Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients |
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| Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion |
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| Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches |
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| Pleiotropic functional properties of androgen receptor mutants in prostate cancer |
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| In memoriam: Victor A. McKusick (1921-2008) |
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| A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia |
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| Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients |
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| Identification of 23<i>TGFBR2</i>and 6<i>TGFBR1</i>gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders |
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| <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome |
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| Novel mutations of the suppressor gene<i>PTEN</i>in colorectal carcinomas stratified by microsatellite instability- and<i>TP53</i>mutation- status |
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| Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma |
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| <i>MSH2</i>missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system |
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| Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsul |
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| The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations |
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| Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East |
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| Moving Microarrays Into Clinical Care |
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| Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization |
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| Molecular analysis of<i>ARSA</i>and<i>PSAP</i>genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel<i>ARSA</i>alleles |
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| Variants of the<i>MATP</i>/<i>SLC45A2</i>gene are protective for melanoma in the French population |
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| Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method |
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| Microarray-based mutation detection in the<i>dystrophin</i>gene |
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| A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals |
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| Identification of 34 novel and 56 known<i>FOXL2</i>mutations in patients with blepharophimosis syndrome |
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| Automated splicing mutation analysis by information theory |
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| Genetic variants and haplotypes of the<i>caspase-8</i>and<i>caspase-10</i>genes contribute to susceptibility to cutaneous melanoma |
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| <i>SLC45A2</i>: a novel malignant melanoma-associated gene |
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| Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form |
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✓ |
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East Asian |
| A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects |
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| <i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta |
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| Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme |
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| Somatic mosaicism for copy number variation in differentiated human tissues |
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| Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency |
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| Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations |
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| Nature and mRNA effect of 282 different<i>NF1</i>point mutations: focus on splicing alterations |
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| Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts |
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| Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update |
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| Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients |
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| Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations |
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| Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms |
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| Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia |
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| A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene |
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| Faster online publication and indexing of “Mutation in Brief” articles via Early View |
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| Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients |
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| Thailand mutation and variation database (ThaiMUT) |
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| UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes |
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| Does proximal myotonic myopathy show anticipation? |
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| A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1) |
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| Mutational spectrum of<i>FAM83H</i>: the C-terminal portion is required for tooth enamel calcification |
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| Red hair is the null phenotype of MC1R |
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| Germline and somatic<i>NF1</i>gene mutations in plexiform neurofibromas |
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| Further evidence for allelic heterogeneity in Hartnup disorder |
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| Genotype-phenotype correlations in MYCN-related Feingold syndrome |
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| High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes |
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| Dynamic nature of the proximal<i>AZFc</i>region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis |
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| SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes |
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| Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with<i>ERCC2</i>(<i>XPD</i>) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy |
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| Dry-reagent disposable biosensor for visual genotyping of single nucleotide polymorphisms by oligonucleotide ligation reaction: application to pharmacogenetic analysis |
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| Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme |
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| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders |
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| Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling |
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| Genetic variation in human aquaporins and effects on phenotypes of water homeostasis |
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| Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis |
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| <i>PLP1</i>splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations |
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| An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism |
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| Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes |
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| Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting |
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| Investigation of citrullinemia type I variants by in vitro expression studies |
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| Mutations and polymorphisms of the gene of the major human blood protein, serum albumin |
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| Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted<i>DLK1/GTL2</i>gene cluster |
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| A meta-analysis of nonsense mutations causing human genetic disease |
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| Long interspersed nuclear element-1 (LINE1)-mediated deletion ofEVC,EVC2,C4orf6, andSTK32B in Ellis–van Creveld syndrome with borderline intelligence |
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| Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice |
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| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations |
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| Spectrum of<i>HLXB9</i>gene mutations in Currarino syndrome and genotype-phenotype correlation |
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| Evaluation of in silico splice tools for decision-making in molecular diagnosis |
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| Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease |
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| Mutations in human monoamine-related neurotransmitter pathway genes |
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| MLPA screening in the<i>BRCA1</i>gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases |
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| Mutation profile of theCDH23 gene in 56 probands with Usher syndrome type I |
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| Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency |
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| Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele |
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| Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease |
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| <i>PROS1</i>analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations |
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| Clinical, cellular, and neuropathological consequences of<i>AP1S2</i>mutations: further delineation of a recognizable X-linked mental retardation syndrome |
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| RPS19 mutations in patients with Diamond-Blackfan anemia |
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| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome |
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| Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating |
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| Sunlight ultraviolet irradiation and<i>BRAF</i>V600 mutagenesis in human melanoma |
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| Genetic polymorphisms for the study of multifactorial stroke |
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| Bottlenecks in molecular testing for rare genetic diseases |
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| Transcriptional expression of<i>cis</i>-acting and<i>trans</i>-acting splicing mutations cause autosomal dominant retinitis pigmentosa |
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| A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency |
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| SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population |
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| Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) |
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| A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family |
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| The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome) |
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| Genetic variability in the mitochondrial serine protease<i>HTRA2</i>contributes to risk for Parkinson disease |
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| The infevers autoinflammatory mutation online registry: update with new genes and functions |
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| Mutations in the chromatin-associated protein ATRX |
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| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
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| Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution? |
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| Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines |
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| A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy |
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| Accurate classification of<i>MLH1/MSH2</i>missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR) |
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| Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis |
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| The human retinitis pigmentosa GTPase regulator gene variant database |
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| Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent |
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| MID1 mutations in patients with X-linked Opitz G/BBB syndrome |
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| Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance |
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| K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population |
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| Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations |
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| High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling |
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| Large scale DNA sequencing: new challenges emerge-the 2007 Human Genome Variation Society scientific meeting |
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| Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule |
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| Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) |
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| <i>SIX1</i>mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR |
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| <i>PINK1</i>heterozygous rare variants: prevalence, significance and phenotypic spectrum |
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| PharmGKB and the International Warfarin Pharmacogenetics Consortium: the changing role for pharmacogenomic databases and single-drug pharmacogenetics |
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| Human genome variation and pharmacogenetics |
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| Detection and precise mapping of germline rearrangements in<i>BRCA1, BRCA2, MSH2</i>, and<i>MLH1</i>using zoom-in array comparative genomic hybridization (aCGH) |
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| Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine |
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| Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma |
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| Validation of the performance of a comprehensive genotyping assay panel of single nucleotide polymorphisms in drug metabolism enzyme genes |
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| Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy |
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| N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel |
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| Lafora disease in the Indian population:EPM2A andNHLRC1 gene mutations and their impact on subcellular localization of laforin and malin |
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✓ |
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Indian population |
| Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex |
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| 6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4 |
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| A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications |
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| Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung |
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| CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains |
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| Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain |
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| A putative exonic splicing enhancer in exon 7 of thePDHA1 gene affects splicing of adjacent exons |
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| RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec |
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✓ |
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French-Canadian population from Quebec |
| Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return |
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| Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II |
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| Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicing |
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| Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores |
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| In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay |
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| A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids |
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| Missense mutations in<i>POU4F3</i>cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding |
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| Branchio-oto-renal syndrome (BOR): novel mutations in the<i>EYA1</i>gene, and a review of the mutational genetics of BOR |
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| Novel mutations in exon 2 of<i>MATN3</i>affect residues within the α-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3 |
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| Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase |
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| Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone |
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| Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system |
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| Myoclonus-dystonia: significance of large<i>SGCE</i>deletions |
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| A 12-bp deletion in the 5'-flanking region of the<i>SERPINH1</i>gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans |
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✓ |
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African Americans |
| The<i>MLH1</i>variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation |
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| Comprehensive analysis of<i>LRRK2</i>in publicly available Parkinson's disease cases and neurologically normal controls |
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| A clinical, genetic, and biochemical characterization of<i>SPG7</i>mutations in a large cohort of patients with hereditary spastic paraplegia |
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| Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the<i>CARKL</i>gene |
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| Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD) |
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| Molecular characterization of novel progranulin (<i>GRN</i>) mutations in frontotemporal dementia |
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| Mutation spectrum of<i>MYO7A</i>and evaluation of a novel nonsyndromic deafness<i>DFNB2</i>allele with residual function |
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| Patterns of missplicing caused by<i>RB1</i>gene mutations in patients with retinoblastoma and association with phenotypic expression |
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| Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening |
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| Somatic<i>FGF9</i>mutations in colorectal and endometrial carcinomas associated with membranous<b>β</b>-catenin |
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| Polymorphisms of<i>LIG4</i>and<i>XRCC4</i>involved in the NHEJ pathway interact to modify risk of glioma |
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| Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase |
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| Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventions |
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| Progranulin locus deletion in frontotemporal dementia |
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| Syndromic true hermaphroditism due to an R-spondin1 (<i>RSPO1</i>) homozygous mutation |
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| NPC-db, a Niemann-Pick type C disease gene variation database |
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| Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing |
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| Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry |
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| Evidence of a four-hit mechanism involving<i>SMARCB1</i>and<i>NF2</i>in schwannomatosis-associated schwannomas |
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| Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease |
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| CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool |
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| Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array |
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| Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer |
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| Detailed analysis of 22q11.2 with a high density MLPA probe set |
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| The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases |
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| <i>PIK3CA</i>cancer mutations display gender and tissue specificity patterns |
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| RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference |
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| A frequent functional SNP in the<i>MMP1</i>promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa |
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| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by<i>DNAH11</i>mutations |
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| Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations |
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| Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay |
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| Genomewide SNP assay reveals mutations underlying Parkinson disease |
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| Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H |
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| Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients |
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| Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threads |
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| An XML-based interchange format for genotype-phenotype data |
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| Mutation analysis in Costello syndrome: functional and structural characterization of the<i>HRAS</i>p.Lys117Arg mutation |
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| <i>Myocilin</i>allele-specific glaucoma phenotype database |
|
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| A new locus-specific database (LSDB) for mutations in the<i>TGFBR2</i>gene: UMD-<i>TGFBR2</i> |
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| Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency |
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| Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families |
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| Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene |
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| Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions |
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| Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients |
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| Missense and nonsense mutations in the alternatively-spliced exon 2 of<i>COL2A1</i>cause the ocular variant of Stickler syndrome |
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| Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome |
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| Comprehensive cDNA study and quantitative transcript analysis of mutant<i>OPA1</i>transcripts containing premature termination codons |
|
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| Mutations of the<i>CEP290</i>gene encoding a centrosomal protein cause Meckel-Gruber syndrome |
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| Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? |
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