| NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis |
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| Whole gene deletion and splicing mutations expand thePINK1 genotypic spectrum |
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| Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs |
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|
✓ |
|
✓ |
|
European derived; African derived |
| Microsatellite in the 3′ untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression |
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| Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene |
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| Long-range PCR facilitates the identification of<i>PMS2</i>-specific mutations |
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| A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics |
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| High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 |
|
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| Identification of novel mutations in<i>PEX2</i>,<i>PEX6</i>,<i>PEX10</i>,<i>PEX12</i>, and<i>PEX13</i>in Zellweger spectrum patients |
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| Deficient membrane integration of the novel p.N14D<i>-GJB2</i>mutant associated with non-syndromic hearing impairment |
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| Determination of the mutation spectrum of the<i>EXT1/EXT2</i>genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in<i>EXT</i>negative cases |
✓ |
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| Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene |
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| Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in<i>PKP2</i> |
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| Identification of novel mutations in the human ornithine transcarbamylase (<i>OTC</i>) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro |
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✓ |
|
Korean |
| Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia |
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| Immunodeficiency mutation databases (IDbases) |
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| Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations |
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| Chronic granulomatous disease caused by mutations other than the common GT deletion in<i>NCF1</i>, the gene encoding the p47<sup>phox</sup>component of the phagocyte NADPH oxidase |
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| Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling |
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| BTKbase: the mutation database for X-linked agammaglobulinemia |
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| Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases |
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| Long contiguous stretches of homozygosity in the human genome |
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| <i>RAG</i>-dependent primary immunodeficiencies |
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| Molecular approaches in the diagnosis of primary immunodeficiency diseases |
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| Population-based estimates of breast cancer risks associated with<i>ATM</i>gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry |
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| Activation-induced cytidine deaminase: structure–function relationship as based on the study of mutants |
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| Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments |
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| The IMGT/HLA and IPD databases |
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| The 185delAG mutation (c.68_69delAG) in theBRCA1 gene triggers translation reinitiation at a downstream AUG codon |
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| Phenotypic heterogeneity in the XPB DNA helicase gene (<i>ERCC3</i>): xeroderma pigmentosum without and with Cockayne syndrome |
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| Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA |
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| Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families |
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| Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements |
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| Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies |
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✓ |
|
gypsies |
| Low frequency ofAXIN2 mutations and high frequency ofMUTYH mutations in patients with multiple polyposis |
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| MUT-TP53: a versatile matrix for TP53 mutation verification and publication |
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| Unique substitution ofCHEK2 andTP53 mutations implicated in primary prostate tumors and cancer cell lines |
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| The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy |
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| Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites |
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| Somatic mutations ofGUCY2F,EPHA3, andNTRK3 in human cancers |
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| A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndrome |
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| ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions |
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| Identification of the microdeletion breakpoint in aGLRA1null allele of Turkish hyperekplexia patients |
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| Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques |
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| ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas |
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| A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness |
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| PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands |
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✓ |
|
Spanish cohort |
| Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome |
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| SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs |
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| <i>NF1</i>mutation rather than individual genetic variability is the main determinant of the<i>NF1</i>-transcriptional profile of mutations affecting splicing |
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| Common variations in the<i>IL4R</i>gene affect splicing and influence natural expression of the soluble isoform |
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| Structural assessment of single amino acid mutations: application to TP53 function |
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| Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations |
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| Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) – association with decreased enzyme function |
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| Mutations in<i>RYR1</i>in malignant hyperthermia and central core disease |
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| Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II |
|
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|
✓ |
|
Italian |
| <i>KCNQ4</i>: a gene for age-related hearing impairment? |
|
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| Genetic evidence for ubiquitin-specific proteases<i>USP24</i>and<i>USP40</i>as candidate genes for late-onset Parkinson disease |
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| Mutations in the BH<sub>4</sub>-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase |
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| Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy |
|
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|
| CpG methylation accounts for a recurrent mutation (c.1222C>T) in the humanPAH gene |
|
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| Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (<i>HNF1A</i>) and 4 alpha (<i>HNF4A</i>) in maturity-onset diabetes of the young |
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| Duplications in theDMD gene |
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| Major affective disorders and schizophrenia: a common molecular signature? |
|
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| Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment |
|
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|
| Population distribution of the functional caspase-12 allele |
|
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| Visualization ofMAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients |
|
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|
| An automated procedure to identify biomedical articles that contain cancer-associated gene variants |
|
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| Acute myelogenous leukemia–derivedSMAD4 mutations target the protein to ubiquitin-proteasome degradation |
|
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| Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients |
|
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|
| Human mtDNA site-specific variability values can act as haplogroup markers |
|
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|
| Variable pathogenic potentials of mutations located in the desmin alpha-helical domain |
|
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|
| Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His |
|
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| National and ethnic mutation databases: recording populations' genography |
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| Phenotypic consequences of branch point substitutions |
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| Paternal bias in parental origin of<i>HRAS</i>mutations in Costello syndrome |
|
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| Spectrum of factor XI (F11) mutations in the UK population – 116 index cases and 140 mutations |
|
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| Missense mutation in theN-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG |
|
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|
|
| Mutational analysis of theABCC6 gene and the proximalABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE) |
|
|
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|
✓ |
|
German patients |
| Identification of forty-five novel and twenty-three knownNF1 mutations in Chinese patients with neurofibromatosis type 1 |
|
|
|
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|
|
✓ |
|
Chinese |
| Direct or indirect association in a complex disease: the role ofSLC22A4 andSLC22A5 functional variants in Crohn disease |
|
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| Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency |
|
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| V(D)J recombinase mediated inter-chromosomalHPRT alterations at cryptic recombination signal sequences in peripheral human T cells |
|
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| Extensive mutational analysis ofPRKCSH andSEC63 broadens the spectrum of polycystic liver disease |
|
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|
|
| Characterization ofCHEK2 mutations in prostate cancer |
|
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|
|
| Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment |
|
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|
|
| Frequency and localization of mutations in the 106 exons of theRYR1 gene in 50 individuals with malignant hyperthermia |
|
|
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|
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|
|
| Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers |
|
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|
|
| The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss |
|
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|
|
| Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene |
|
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|
|
| <i>TGFBR1</i>and<i>TGFBR2</i>mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome |
|
|
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|
|
| Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis |
|
|
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|
|
| Identification and in silico analyses of novelTGFBR1 andTGFBR2 mutations in Marfan syndrome-related disorders |
|
|
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|
|
|
|
|
|
| Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization |
|
|
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|
|
| MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q |
|
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|
|
| McArdle disease: the mutation spectrum of<i>PYGM</i>in a large Italian cohort |
|
|
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|
|
| Sub-Saharan African coding sequence variation and haplotype diversity at the<i>NAT2</i>gene |
|
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|
|
| Detection of 95 novel mutations in coagulation factor VIII gene<i>F8</i>responsible for hemophilia A: results from a single institution |
|
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|
|
| A quality assessment survey of SNP genotyping laboratories |
|
|
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|
|
| Novel and recurrent mutations in keratin<i>KRT5</i>and<i>KRT14</i>genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly |
|
|
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|
|
|
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|
|
| In vitro analysis of genomic instability triggered by BRCA1 missense mutations |
|
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|
|
| A new large<i>CFTR</i>rearrangement illustrates the importance of searching for complex alleles |
|
|
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|
|
| Werner syndrome and mutations of the<i>WRN</i>and<i>LMNA</i>genes in France |
|
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|
|
| Mutational spectrum of maple syrup urine disease in Spain |
|
|
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|
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|
|
| The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs) |
|
|
|
|
|
|
|
|
|
| Multiple displacement amplification to create a long-lasting source of DNA for genetic studies |
|
|
|
|
|
|
|
|
|
| Identification of a novel mutation of<i>SH3BP2</i>in cherubism and demonstration that<i>SH3BP2</i>mutations lead to increased NFAT activation |
|
|
|
|
|
|
|
|
|
| Mutations and polymorphisms in the human ornithine transcarbamylase (<i>OTC</i>) gene |
|
|
|
|
|
|
|
|
|
| Mutation analysis of<i>COL1A1</i>and<i>COL1A2</i>in patients diagnosed with osteogenesis imperfecta type I-IV |
|
|
|
|
|
|
|
|
|
| Genetic variability, haplotypes, and htSNPs for exons 1 at the human<i>UGT1A</i>locus |
|
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|
|
| A common mutation in the<i>CBS</i>gene explains a high incidence of homocystinuria in the Qatari population |
|
|
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|
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|
|
|
|
| Novel mutations in<i>ENG</i>and<i>ACVRL1</i>identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with |
|
|
|
|
|
|
|
|
|
| High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 |
|
|
|
|
|
|
|
|
|
| Mutations in two regions of<i>FLNB</i>result in atelosteogenesis I and III |
|
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|
|
|
|
| Mutations in the<i>lipoma HMGIC fusion partner-like 5 (LHFPL5)</i>gene cause autosomal recessive nonsyndromic hearing loss |
|
|
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|
|
| A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (<i>MCEE</i>) results in mild methylmalonic aciduria |
|
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|
|
| Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40 |
|
|
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|
|
| Variation in retinitis pigmentosa-11 (<i>PRPF31</i>or<i>RP11</i>) gene expression between symptomatic and asymptomatic patients with dominant<i>RP11</i>mutations |
|
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|
| The Cypriot and Iranian National Mutation Frequency Databases |
|
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|
| Hepatic and neuromuscular forms of glycogenosis type III: nine mutations inAGL |
|
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|
|
| Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients |
|
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|
|
| Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta |
|
|
|
|
|
|
✓ |
|
Korean |
| Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene |
|
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|
| Determination of genomic copy number with quantitative microsphere hybridization |
|
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| Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding |
|
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|
| TGFBI gene mutations in corneal dystrophies |
|
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| A DGGE system for comprehensive mutation screening of<i>BRCA1</i>and<i>BRCA2</i>: application in a Dutch cancer clinic setting |
|
|
|
|
|
|
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|
|
| m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors |
|
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|
|
| A homozygous<i>ZMPSTE24</i>null mutation in combination with a heterozygous mutation in the<i>LMNA</i>gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS |
|
|
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|
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|
|
| Genome-wide identification of pseudogenes capable of disease-causing gene conversion |
|
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|
|
| The spectrum of<i>WRN</i>mutations in Werner syndrome patients |
|
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|
|
| Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa |
|
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|
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|
|
|
|
| GENOMIZER: an integrated analysis system for genome-wide association data |
|
|
|
|
|
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|
|
|
| The<i>ATM</i>missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer |
|
|
|
|
|
|
|
|
|
| Comparisons of PCR-based genome amplification systems using CpG island microarrays |
|
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|
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|
|
|
| Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis ofMLC1 |
|
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|
|
| Pharmacological rescue of carnitine transport in primary carnitine deficiency |
|
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|
| The Cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease |
|
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|
|
| A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3 |
|
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|
|
|
| Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays |
|
|
|
|
|
|
|
|
|
| Long-range PCR facilitates the identification ofPMS2-specific mutations |
|
|
|
|
|
|
|
|
|
| Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formation |
|
|
|
|
|
|
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|
|
| Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response |
|
|
|
|
|
|
|
|
|
| The c.43_44insCTG variation inPCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population |
✓ |
|
|
|
|
|
|
|
|
| Intronic alterations in<i>BRCA1</i>and<i>BRCA2</i>: effect on mRNA splicing fidelity and expression |
|
|
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|
|
| Optimization and evaluation of single-cell whole-genome multiple displacement amplification |
|
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| Confirmation of the origin of NISCH syndrome |
|
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| Jagged1 (<i>JAG1</i>) mutations in Alagille syndrome: increasing the mutation detection rate |
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| Denaturing temperature selection may underestimate keratin mutation detection by DHPLC |
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| The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation |
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| Genes and loci involved in febrile seizures and related epilepsy syndromes |
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| Interaction between<i>IL1B</i>gene promoter polymorphisms in determining susceptibility to<i>Helicobacter pylori</i>associated duodenal ulcer |
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| Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides |
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| Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database |
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| NovelJARID1C/SMCX mutations in patients with X-linked mental retardation |
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| Functional polymorphism inALOX15 results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1 |
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| Trafficking-competent and trafficking-defectiveKCNJ2 mutations in Andersen syndrome |
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| Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy |
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| Determination of genomic copy number with quantitative microsphere hybridization |
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| Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) |
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| The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene |
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| Present status of outcome prediction of invasive coronary treatment by using genetic markers |
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| dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans |
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| A second-site mutation in the initiation codon ofWAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient |
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| GermlineLEMD3 mutations are rare in sporadic patients with isolated melorheostosis |
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| Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome |
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| Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants inMLC1 |
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| Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene |
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| Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate |
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| Functional analysis of splicing mutations and of an exon 2 polymorphic variant ofSERPING1/C1NH |
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| Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I |
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| Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing |
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| De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome |
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| A novel mutation in theGATA4 gene in patients with Tetralogy of Fallot |
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| Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization |
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| Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1 |
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| MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease |
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| High prevalence ofCBS p.T191M mutation in homocystinuric patients from Colombia |
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| Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of<b>α</b>IIb<b>β</b>3 integrin (<i>ITGA2B, ITGB3</i>) |
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| Mechanisms of the interaction between twoADAMTS13 gene mutations leading to severe deficiency of enzymatic activity |
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| Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD) |
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| DLG5 variants contribute to Crohn disease risk in a Canadian population |
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| Comprehensive mutation analysis of<i>GLDC</i>,<i>AMT</i>, and<i>GCSH</i>in nonketotic hyperglycinemia |
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| Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia |
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| Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection |
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| Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies |
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| DRD4 gene variant associated with body mass: The National Longitudinal Study of Adolescent Health |
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| Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders |
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| Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome |
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| BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension |
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| DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population |
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✓ |
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Italian population |
| Mutation spectra ofABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI) |
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| Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia |
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| Mutations of the TGF-β type II receptorBMPR2 in pulmonary arterial hypertension |
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| Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations |
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| A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1 |
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| Novel PRG4 mutations underlie CACP in Saudi families |
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| Distribution of human SNPs and its effect on high-throughput genotyping |
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| Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and SUR1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism |
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| Masking selected sequence variation by incorporating mismatches into melting analysis probes |
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| A haplotype containing the<i>p53</i>polymorphisms Ins16bp and Arg72Pro modifies cancer risk in<i>BRCA2</i>mutation carriers |
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| 2005 Human Genome Variation Society Scientific Meeting |
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| Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension–application to the variants of mannose-binding lectin gene |
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| RNAi-based suppression and replacement of<i>rds</i>-peripherin in retinal organotypic culture |
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| PTCH mutations: distribution and analyses |
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| Systematic mRNA analysis for the effect ofMLH1 andMSH2 missense and silent mutations on aberrant splicing |
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| Predicting the transactivation activity of p53 missense mutants using a four-body potential score derived from Delaunay tessellations |
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| Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in theTP53 gene on survival in patients with advanced ovarian carcinoma |
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| Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs |
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| Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism |
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| Prioritizing regions of candidate genes for efficient mutation screening |
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| Altered transmission of maternal angiotensin II receptor haplotypes in fetal growth restriction |
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| Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients |
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| Functional polymorphism in<i>ALOX15</i>results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1 |
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| Spectrum of mutations in<i>mut</i>methylmalonic acidemia and identification of a common Hispanic mutation and haplotype |
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✓ |
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Hispanic |
| Mutation, selection, and evolution of the Crohn disease susceptibility gene<i>CARD15</i> |
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| The UMD TP53 database and website: update and revisions |
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| Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region |
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| An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations |
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| Cryptic haplotypes of<i>SERPINA1</i>confer susceptibility to chronic obstructive pulmonary disease |
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