| Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients |
|
|
|
|
|
|
|
|
|
| Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain |
|
|
|
|
|
|
|
|
|
| Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism |
|
|
|
|
|
|
|
|
|
| The mutational spectrum of human autosomal tetranucleotide microsatellites |
|
|
|
|
|
|
|
|
|
| Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10 |
|
|
|
|
|
|
|
|
|
| Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps |
|
|
|
|
|
|
|
|
|
| eMelanoBase: An online locus-specific variant database for familial melanoma |
|
|
|
|
|
|
|
|
|
| Mutation scanning by ion-pair reversed-phase high-performance liquid chromatography-electrospray ionization mass spectrometry (ICEMS) |
|
|
|
|
|
|
|
|
|
| A higher-impactHuman Mutationlaunches web-based submission/peer review andEarlyView rapid publication |
|
|
|
|
|
|
|
|
|
| BRCA1 germline mutations in Indian familial breast cancer |
|
|
|
|
|
|
|
|
|
| Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1 |
|
|
|
|
|
|
|
|
|
| Sequence diversity of<i>KIAA0027/MLC1:</i>are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? |
|
|
|
|
|
|
|
|
|
| Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases |
|
|
|
|
|
|
|
|
|
| ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects |
|
|
|
|
|
|
|
|
|
| Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity |
|
|
|
|
|
|
|
|
|
| Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion |
|
|
|
|
|
|
|
|
|
| Dynamics of CAG repeat loci revealed by the analysis of their variability |
|
|
|
|
|
|
|
|
|
| Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome |
|
|
|
|
|
|
|
|
|
| Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays |
|
|
|
|
|
|
|
|
|
| Splice mutations in the p53 gene: case report and review of the literature |
|
|
|
|
|
|
|
|
|
| Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations |
|
|
|
|
|
|
|
|
|
| Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis |
|
|
|
|
|
|
|
|
|
| Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous ?-subunit mutations |
|
|
|
|
|
|
|
|
|
| Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the<i>SMN1</i>gene |
|
|
|
|
|
|
|
|
|
| D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for aCis-acting disease modifier in the recessive haplotype |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 in Indian breast cancer patients |
|
|
|
|
|
|
|
|
|
| KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population |
|
|
|
|
|
|
|
|
|
| Analysis of<i>ABCA4</i>in mixed Spanish families segregating different retinal dystrophies |
|
|
|
|
|
|
|
|
|
| Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene |
|
|
|
|
|
|
|
|
|
| Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of GSD III subjects and identification of six novel mutations inAGL |
|
|
|
|
|
|
|
|
|
| Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia |
|
|
|
|
|
|
|
|
|
| Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons |
|
|
|
|
|
|
|
|
|
| Increasing evidence that germline mutations in<i>CHEK2</i>do not cause Li-Fraumeni syndrome |
|
|
|
|
|
|
|
|
|
| SLC26A3 mutations in congenital chloride diarrhea |
|
|
|
|
|
|
|
|
|
| Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes |
|
|
|
|
|
|
|
|
|
| Hereditary breast and ovarian cancer in Asia: genetic epidemiology ofBRCA1 andBRCA2 |
|
|
|
|
|
|
|
|
|
| BRCA1 andBRCA2 sequence variants in Chinese breast cancer families |
|
|
|
|
|
|
✓ |
|
Chinese |
| <i>BRCA1</i>and<i>BRCA2</i>mutation analysis of early-onset and familial breast cancer cases in Mexico |
|
|
|
|
|
|
|
|
|
| A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease |
|
|
|
|
|
|
|
|
|
| A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls |
|
|
|
|
|
|
|
|
|
| GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY) |
|
|
|
|
|
|
|
|
|
| Determination of ?2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay |
|
|
|
|
|
|
|
|
|
| DHPLC mutation analysis ofJagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients |
|
|
|
|
|
|
|
|
|
| Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases |
|
|
|
|
|
|
|
|
|
| The humanSHOX mutation database |
|
|
|
|
|
|
|
|
|
| NovelPEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients |
|
|
|
|
|
|
|
|
|
| DHPLC analysis of potassium ion channel genes in congenital long QT syndrome |
|
|
|
|
|
|
|
|
|
| Different molecular mechanisms underlie genomic deletions in theMLH1 Gene |
|
|
|
|
|
|
|
|
|
| The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis - novel genomic variants and functional consequences |
|
|
|
|
|
|
|
|
|
| Clustering of variations and haplotype analysis in the highly variable region of exon 11 ofBRCA1 in Chinese women with sporadic breast cancer |
|
|
|
|
|
|
|
|
|
| H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency |
|
|
|
|
|
|
|
|
|
| A collection of 33 novel human mtDNA homoplasmic variants |
|
|
|
|
|
|
|
|
|
| Cyclooxygenase 1(COX1) polymorphisms in African-American and caucasian populations |
✓ |
|
|
|
|
|
|
|
|
| Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome |
|
|
|
|
|
|
|
|
|
| A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features |
|
|
|
|
|
|
|
|
|
| The detection of large deletions or duplications in genomic DNA |
|
|
|
|
|
|
|
|
|
| Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations |
|
|
|
|
|
|
|
|
|
| Novel mutations of APOB cause apoB truncations undetectable in plasma and familial hypobetalipoproteinemia |
|
|
|
|
|
|
|
|
|
| Five novelSLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance |
|
|
|
|
|
|
|
|
|
| Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion |
|
|
|
|
|
|
|
|
|
| Ten novel ORF15 mutations confirm mutational hot spot in theRPGR gene in European patients with X-linked retinitis pigmentosa |
|
|
|
|
✓ |
|
|
|
European patients |
| Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations |
|
|
|
|
|
|
|
|
|
| Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations |
|
|
|
|
|
|
|
|
|
| Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations |
|
|
|
|
|
|
|
|
|
| Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma |
|
|
|
|
|
|
|
|
|
| Novel O<sup>6</sup>-methylguanine-DNA methyltransferase SNPs: A frequency comparison of patients with familial melanoma and healthy individuals in Sweden |
|
|
|
|
|
|
|
|
|
| Characterization of a novelCYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity |
|
|
|
|
|
|
|
|
|
| Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss |
|
|
|
|
|
|
|
|
|
| Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in theMECP2 gene: Is there a need for routine screening? |
|
|
|
|
|
|
|
|
|
| PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13 |
|
|
|
|
|
|
|
|
|
| Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of thePAX6 gene |
|
|
|
|
|
|
|
|
|
| Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin |
|
|
|
|
|
|
✓ |
|
Finnish origin |
| MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome |
|
|
|
|
|
|
|
|
|
| An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC |
|
|
|
|
|
|
|
|
|
| High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation |
|
|
|
|
|
|
|
|
|
| rSNP_Guide: An integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sites |
|
|
|
|
|
|
|
|
|
| Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype |
|
|
|
|
|
|
|
|
|
| Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome |
|
|
|
|
|
|
✓ |
|
Italian |
| One-Step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs |
|
|
|
|
|
|
|
|
|
| Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B |
|
|
|
|
|
|
|
|
|
| Novel mutations and SNPs identified inCCR2 using a new comprehensive denaturing gradient gel electrophoresis assay |
|
|
|
|
|
|
|
|
|
| Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases |
|
|
|
|
|
|
|
|
|
| Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry |
|
|
|
|
|
|
|
|
|
| Comparison of DNA- and RNA-Based Methods for Detection of TruncatingBRCA1 Mutations |
|
|
|
|
|
|
|
|
|
| Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings |
|
|
|
|
|
|
|
|
|
| Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients |
|
|
|
|
|
|
|
|
|
| Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome |
|
|
|
|
|
|
|
|
|
| Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients |
|
|
|
|
|
|
|
|
|
| Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in theCSX/NKX2-5 Gene |
|
|
|
|
|
|
|
|
|
| Erratum: Identification of five new mutations of<i>PDS/SLC26A4</i>in Mediterranean families with hearing impairment |
|
|
|
|
|
|
|
|
|
| Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients |
|
|
|
|
|
|
|
|
|
| Mutations in Myosin VIIA (<i>MYO7A</i>) and Usherin (<i>USH2A</i>) in Spanish patients with usher syndrome types I and II, respectively |
|
|
|
|
|
|
|
|
|
| Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation |
|
|
|
|
|
|
|
|
|
| Germline mutation profile of<i>MEN1</i>in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein |
|
|
|
|
|
|
|
|
|
| A mutational hot spot in theKCNQ4 gene responsible for autosomal dominant hearing impairment |
|
|
|
|
|
|
|
|
|
| Frequencies of<i>GJB2</i>mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment |
|
|
|
|
|
|
|
|
|
| Familial conformational diseases and dementias |
|
|
|
|
|
|
|
|
|
| Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome |
|
|
|
|
|
|
|
|
|
| Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease |
|
|
|
|
|
|
|
|
|
| RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes |
|
|
|
|
|
|
|
|
|
| Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry |
|
|
|
|
|
|
|
|
|
| Novel mutations ofAPOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia |
|
|
|
|
|
|
|
|
|
| I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier? |
|
|
|
|
|
|
|
|
|
| The molecular basis of cystathionine ?-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the<i>spastin</i>gene (<i>SPG4</i>) in patients in Germany with autosomal dominant hereditary spastic paraplegia |
|
|
|
|
|
|
|
|
|
| An amplification and ligation-based method to scan for unknown mutations in DNA |
|
|
|
|
|
|
|
|
|
| The UMD-LDLR database: additions to the software and 490 new entries to the database |
|
|
|
|
|
|
|
|
|
| Mutations in the human ATP-binding cassette transportersABCG5 andABCG8 in sitosterolemia |
|
|
|
|
|
|
|
|
|
| Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome |
|
|
|
|
|
|
|
|
|
| Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments |
|
|
|
|
|
|
|
|
|
| Mutational analysis of patients with the diagnosis of choroideremia |
|
|
|
|
|
|
|
|
|
| Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A |
|
|
|
|
|
|
|
|
|
| A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients |
|
|
|
|
|
|
|
|
|
| Analysis of thePTCH coding region in human rhabdomyosarcoma |
|
|
|
|
|
|
|
|
|
| Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A |
|
|
|
|
|
|
|
|
|
| Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients |
|
|
|
|
|
|
|
|
|
| Data mining of public SNP databases for the selection of intragenic SNPs |
|
|
|
|
|
|
|
|
|
| TGGE screening of the entire<i>FBN1</i>coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies |
|
|
|
|
|
|
|
|
|
| Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies |
|
|
|
|
|
|
|
|
|
| SNP databases and pharmacogenetics: great start, but a long way to go |
|
|
|
|
|
|
|
|
|
| Population genetic implications from DNA polymorphism in random human genomic sequences |
|
|
|
|
|
|
|
|
|
| Third international meeting on the genetic epidemiology of complex traits, April 4-6, 2002, Cambridge, UK |
|
|
|
|
|
|
|
|
|
| Analysis of breast cancer susceptibility genesBRCA1 andBRCA2 in Thai familial and isolated early-onset breast and ovarian cancer |
|
|
|
|
|
|
|
|
|
| Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations |
|
|
|
|
|
|
✓ |
|
Italian population |
| Identification of seven novel mutations of F8C by DHPLC |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype studies of six novelLPL mutations in Chinese patients with hypertriglyceridemia |
|
|
|
|
|
|
✓ |
|
Chinese patients |
| Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and ?2642 (E2642del) polymorphisms |
|
|
|
|
|
|
|
|
|
| Human piebaldism: six novel mutations of the proto-oncogene KIT |
|
|
|
|
|
|
|
|
|
| Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients |
|
|
|
|
|
|
|
|
|
| Germline mutations ofBRCA1 andBRCA2 in Korean breast and/or ovarian cancer families |
|
|
|
|
|
|
|
|
|
| Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia |
|
|
|
|
|
|
|
|
|
| Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome |
|
|
|
|
|
|
|
|
|
| Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis |
|
|
|
|
|
|
✓ |
|
German and Swiss origin |
| A robust method for detectingCHK2/RAD53 mutations in genomic DNA |
|
|
|
|
|
|
|
|
|
| Arab genetic disease database (AGDDB): A population-specific clinical and mutation database |
|
|
|
|
|
|
|
|
|
| Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients w |
|
|
|
|
|
|
|
|
|
| Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients |
|
|
|
|
|
|
✓ |
|
German, Hungarian, and Polish patients |
| Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP) |
|
|
|
|
|
|
|
|
|
| Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles |
|
|
|
|
|
|
|
|
|
| NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas |
|
|
|
|
|
|
|
|
|
| Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort |
|
|
|
|
|
|
|
|
|
| GermlineBRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent withBRCA1:?BRCA1 recombination |
|
|
|
|
|
|
|
|
|
| Missense mutations of human homeoboxes: A review |
|
|
|
|
|
|
|
|
|
| Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms |
|
|
|
|
|
|
|
|
|
| Making ends meet in genetic analysis using padlock probes |
|
|
|
|
|
|
|
|
|
| Pyrosequencing?: An accurate detection platform for single nucleotide polymorphisms |
|
|
|
|
|
|
|
|
|
| High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations |
|
|
|
|
|
|
|
|
|
| HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server |
|
|
|
|
|
|
|
|
|
| The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines |
|
|
|
|
|
|
|
|
|
| The enigma of theSan Lesmes (response to Langdon, 2002) |
|
|
|
|
|
|
|
|
|
| Myotonia caused by mutations in the muscle chloride channel geneCLCN1 |
|
|
|
|
|
|
|
|
|
| Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations |
|
|
|
|
|
|
|
|
|
| Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed inEscherichia coli |
|
|
|
|
|
|
|
|
|
| AHOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome |
|
|
|
|
|
|
|
|
|
| Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome |
|
|
|
|
|
|
|
|
|
| Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within theUGT1 gene |
|
|
|
|
|
|
|
|
|
| 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1 |
|
|
|
|
|
|
|
|
|
| The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease |
|
|
|
|
|
|
|
|
|
| Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan |
|
|
|
|
|
|
|
|
|
| SNP genotyping with fluorescence polarization detection |
|
|
|
|
|
|
|
|
|
| A quite different view of Maori origins: Genetic evidence of pre-19th century European settlement in New Zealand |
|
|
|
|
✓ |
|
|
|
European settlement |
| Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism |
|
|
|
|
|
|
✓ |
|
Italian |
| A BRCA1 mutation in Native North American families |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening |
|
|
|
|
|
|
|
|
|
| The identification and classification of 41 novel mutations in the factor VIII gene (F8C) |
|
|
|
|
|
|
|
|
|
| A surface invasive cleavage assay for highly parallel SNP analysis |
|
|
|
|
|
|
|
|
|
| Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein |
|
|
|
|
|
|
|
|
|
| Characterization of mutations in fifty North American patients with X-linked myotubular myopathy |
|
|
|
|
|
|
|
|
|
| Analysis of SNPs and other genomic variations using gel-based chips |
|
|
|
|
|
|
|
|
|
| New developments in high-throughput resequencing and variation detection using high density microarrays |
|
|
|
|
|
|
|
|
|
| Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene |
|
|
|
|
|
|
|
|
|
| Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 mutations in Russian familial breast cancer |
|
|
|
|
|
|
|
|
|
| Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema |
|
|
|
|
|
|
|
|
|
| Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families |
|
|
|
|
|
|
|
|
|
| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness |
|
|
|
|
|
|
|
|
|
| Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations |
|
|
|
|
|
|
|
|
|
| An update on conformation sensitive gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis ofBRCA1 exon 11 mutations in a high-risk breast cancer cohort |
|
|
|
|
|
|
|
|
|
| A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families |
|
|
|
|
|
|
|
|
|
| Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory |
|
|
|
|
|
|
|
|
|
| Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain |
|
|
|
|
|
|
|
|
|
| Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients |
|
|
|
|
|
|
|
|
|
| A modified multiplex PCR assay for detection of large deletions inMSH2 andMLH1 |
|
|
|
|
|
|
|
|
|
| Mutations ofRPGR in X-linked retinitis pigmentosa (RP3) |
|
|
|
|
|
|
|
|
|
| Miniaturized sealed-tube allele-specific PCR |
|
|
|
|
|
|
|
|
|
| Determining sequence length or content in zero, one, and two dimensions |
|
|
|
|
|
|
|
|
|
| A review of the phenotypic variation due to the Denys-Drash syndrome-associated germlineWT1 mutation R362X |
|
|
|
|
|
|
|
|
|
| Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the<i>FBN1</i>gene |
|
|
|
|
|
|
|
|
|
| Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria |
|
|
|
|
|
|
✓ |
|
Polish |
| Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin |
|
|
|
|
|
|
|
|
|
| Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension |
|
|
|
|
|
|
|
|
|
| Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D |
|
|
|
|
|
|
|
|
|
| Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B |
|
|
|
|
|
|
|
|
|
| Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population |
|
|
|
|
|
|
|
|
|
| Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosi |
|
|
|
|
|
|
✓ |
|
Japanese population |
| Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes |
|
|
|
|
|
|
|
|
|
| DHPLC screening of cystic fibrosis gene mutations |
|
|
|
|
|
|
|
|
|
| Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes) |
|
|
|
|
|
|
|
|
|
| GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss |
|
|
|
|
|
|
|
|
|
| Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes |
|
|
|
|
|
|
|
|
|
| G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations |
|
|
|
|
|
|
|
|
|
| Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease |
|
|
|
|
|
|
✓ |
|
Czech families |
| Novel germline<i>CDH1</i>mutations in hereditary diffuse gastric cancer families |
|
|
|
|
|
|
|
|
|
| New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene |
|
|
|
|
|
|
|
|
|
| Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations |
|
|
|
|
|
|
|
|
|
| Mutations in theRUNX2 gene in patients with cleidocranial dysplasia |
|
|
|
|
|
|
|
|
|
| A new strategy for mannose-binding lectin gene haplotyping |
|
|
|
|
|
|
|
|
|
| Mutation analysis in<i>PKD1</i>of Japanese autosomal dominant polycystic kidney disease patients |
|
|
|
|
|
|
✓ |
|
Japanese |
| NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes |
|
|
|
|
|
|
|
|
|
| Differential occurrence of mutations causative of eye diseases in the Chinese population |
|
|
|
|
|
|
|
|
|
| Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing? and validation against the 5?nuclease (Taqman�) assay |
|
|
|
|
|
|
|
|
|
| GeneTests-GeneClinics: Genetic testing information for a growing audience |
|
|
|
|
|
|
|
|
|
| Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S |
|
|
|
|
✓ |
|
|
|
individuals of European descent |
| Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred |
|
|
|
|
|
|
|
|
|
| A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations |
|
|
|
|
|
|
|
|
|
| Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| The IARC TP53 database: New online mutation analysis and recommendations to users |
|
|
|
|
|
|
|
|
|
| Mutations and polymorphisms in the human ornithine transcarbamylase gene |
|
|
|
|
|
|
|
|
|
| <i>APC</i>germline mutations identified in Czech patients with familial adenomatous polyposis |
|
|
|
|
|
|
✓ |
|
Czech |
| An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus |
|
|
|
|
|
|
|
|
|
| Sources of variability in genetic association studies: Insights from the analysis of hepatic lipase (LIPC) |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations |
|
|
|
|
|
|
|
|
|
| Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis |
|
|
|
|
|
|
|
|
|