| HEY2 mutations in malformed hearts |
|
|
|
|
|
|
|
|
|
| Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption |
|
|
|
|
|
|
|
|
|
| ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene |
|
|
|
|
|
|
|
|
|
| Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus |
|
|
|
|
|
|
|
|
|
| Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays |
|
|
|
|
|
|
|
|
|
| Characterization of simple sequence repeat variants linked to candidate genes for behavioral phenotypes |
|
|
|
|
|
|
|
|
|
| Functional polymorphisms in dopamine and serotonin pathway genes |
|
|
|
|
|
|
|
|
|
| Four novelTMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss |
|
|
|
|
|
|
✓ |
|
Turkish patients |
| Erratum: Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Identification of genetic aberrations on chromosome 22 outside the<i>NF2</i>locus in schwannomatosis and neurofibromatosis type 2 |
|
|
|
|
|
|
|
|
|
| Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects |
|
|
|
|
|
|
|
|
|
| Multiple epiphyseal dysplasia mutations inMATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 |
|
|
|
|
|
|
|
|
|
| Germline mutations of theMSR1 gene in prostate cancer families from Germany |
|
|
|
|
|
|
|
|
|
| The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies |
|
|
|
|
|
|
|
|
|
| High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome |
|
|
|
|
|
|
|
|
|
| Preferential occurrence of 1-2 microindels |
|
|
|
|
|
|
|
|
|
| Younger birth cohort correlates with higher breast and ovarian cancer risk in EuropeanBRCA1 mutation carriers |
|
|
|
|
|
|
|
|
EuropeanBRCA1 mutation carriers |
| Splice-site contribution in alternative splicing ofPLP1 andDM20: molecular studies in oligodendrocytes |
|
|
|
|
|
|
|
|
|
| Genetic polymorphisms in cell cycle regulatory genesMDM2 andTP53 are associated with susceptibility to lung cancer |
|
|
|
|
|
|
|
|
|
| Erratum: A double missense variation of theBUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T |
|
|
|
|
|
|
|
|
|
| Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) |
|
|
|
|
|
|
|
|
|
| Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses ofPRF1, UNC13D, STX11, andRAB27A |
|
|
|
|
|
|
|
|
|
| Update of the molecular basis of familial hypercholesterolemia in The Netherlands |
|
|
|
|
|
|
|
|
|
| cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression |
|
|
|
|
|
|
|
|
|
| Toward a Human Variome Project |
|
|
|
|
|
|
|
|
|
| Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome |
|
|
|
|
|
|
|
|
|
| Mutation rates at Y chromosome specific microsatellites |
|
|
|
|
|
|
|
|
|
| Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies |
|
|
|
|
|
|
|
|
|
| Erratum: the mutational spectrum ofENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) |
|
|
|
|
|
|
|
|
|
| The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype |
|
|
|
|
|
|
|
|
|
| Genetic variant characterization in intron 4 of the surfactant protein B gene |
|
|
|
|
|
|
|
|
|
| Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria |
|
|
|
|
|
|
|
|
|
| Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families |
|
|
|
|
|
|
|
|
|
| Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Expression of<i>NF1</i>pseudogenes |
|
|
|
|
|
|
|
|
|
| Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs |
|
|
|
|
|
|
|
|
|
| Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency |
|
|
|
|
|
|
|
|
|
| Predicting the oncogenicity of missense mutations reported in the International Agency for Cancer Research (IARC) mutation database on p53 |
|
|
|
|
|
|
|
|
|
| Locus-specific databases: from ethical principles to practice |
|
|
|
|
|
|
|
|
|
| Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay |
|
|
|
|
|
|
|
|
|
| Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility |
|
|
|
|
|
|
|
|
|
| Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders |
|
|
|
|
|
|
|
|
|
| Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the<i>TCBA1</i>gene |
|
|
|
|
|
|
|
|
|
| Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies |
|
|
|
|
|
|
|
|
|
| <i>GATA1</i>mutations in myeloproliferative disorders: nomenclature standardization and review of the literature |
|
|
|
|
|
|
|
|
|
| The human TBX5 gene mutation database |
|
|
|
|
|
|
|
|
|
| Mutations in the holocarboxylase synthetase geneHLCS |
|
|
|
|
|
|
|
|
|
| Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers |
|
|
|
|
|
|
|
|
|
| Linear allele-specific long-range amplification: a novel method of long-range molecular haplotyping |
|
|
|
|
|
|
|
|
|
| Mutations ofAPC andMYH in unrelated Italian patients with adenomatous polyposis coli |
|
|
|
|
|
|
✓ |
|
Italian |
| Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure |
✓ |
|
|
|
|
|
✓ |
|
African-American |
| Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin |
|
|
|
|
|
|
|
|
|
| Novel sequence variants in theTMC1 gene in Pakistani families with autosomal recessive hearing impairment |
|
|
|
|
|
|
|
|
|
| Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes |
|
|
|
|
|
|
|
|
|
| A novel functionally deficientMYH variant in individuals with colorectal adenomatous polyposis |
|
|
|
|
|
|
|
|
|
| Persistent mild hypothyroidism associated with novel sequence variants of theDUOX2 gene in two siblings |
|
|
|
|
|
|
|
|
|
| Spectrum of gross deletions and insertions in theRB1 gene in patients with retinoblastoma and association with phenotypic expression |
|
|
|
|
|
|
|
|
|
| Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA |
|
|
|
|
|
|
|
|
|
| Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis |
|
|
|
|
|
|
|
|
|
| Palindromic AT-rich repeat in the<i>NF1</i>gene is hypervariable in humans and evolutionarily conserved in primates |
|
|
|
|
|
|
|
|
|
| Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissue |
|
|
|
|
|
|
|
|
|
| Mutations in the human<i>LKB1/STK11</i>gene |
|
|
|
|
|
|
|
|
|
| Rare missense variants inATP1A2 in families with clustering of common forms of migraine |
|
|
|
|
|
|
|
|
|
| Intrachromosomal serial replication slippage in<i>trans</i>gives rise to diverse genomic rearrangements involving inversions |
|
|
|
|
|
|
|
|
|
| Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint |
|
|
|
|
|
|
|
|
|
| A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer |
|
|
|
|
|
|
|
|
|
| Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation |
|
|
|
|
|
|
|
|
|
| Analysis of 65 tuberous sclerosis complex (TSC) patients by<i>TSC2</i>DGGE,<i>TSC1</i>/<i>TSC2</i>MLPA, and<i>TSC1</i>long-range PCR sequencing, and report of 28 novel mutations |
|
|
|
|
|
|
|
|
|
| Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies |
|
|
|
|
|
|
|
|
|
| NovelPEX1 coding mutations and 5′ UTR regulatory polymorphisms |
|
|
|
|
|
|
|
|
|
| Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures |
|
|
|
|
|
|
|
|
|
| ATP1A2 mutations in 11 families with familial hemiplegic migraine |
|
|
|
|
|
|
|
|
|
| SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype |
|
|
|
|
|
|
|
|
|
| Mutation spectrum of the APC gene in 83 Korean FAP families |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the<i>HEXA</i>gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles |
|
|
|
|
|
|
|
|
|
| DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel<i>PTCH</i>missense mutations in the sterol-sensing domain |
|
|
|
|
|
|
|
|
|
| De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes |
|
|
|
|
|
|
|
|
|
| Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD<sub>Union</sub>and G6PD<sub>Andalus</sub> |
|
|
|
|
|
|
|
|
|
| Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry |
|
|
|
|
✓ |
|
|
|
predominantly European ancestry |
| Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas |
|
|
|
|
|
|
|
|
|
| Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci |
|
|
|
|
|
|
|
|
|
| Scanning of genetic effects of alcohol metabolism gene (<i>ADH1B</i>and<i>ADH1C</i>) polymorphisms on the risk of alcoholism |
|
|
|
|
|
|
|
|
|
| UMD (Universal Mutation Database): 2005 update |
|
|
|
|
|
|
|
|
|
| Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources |
|
|
|
|
|
|
|
|
|
| LDL-receptor mutations in Europe |
|
|
|
|
|
|
|
|
|
| Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in<i>ABCC6</i> |
|
|
|
|
|
|
|
|
|
| Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A |
|
|
|
|
|
|
|
|
|
| <i>PEX1</i>mutations in the Zellweger spectrum of the peroxisome biogenesis disorders |
|
|
|
|
|
|
|
|
|
| Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity |
|
|
|
|
|
|
|
|
|
| Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools |
|
|
|
|
|
|
|
|
|
| Gaucher mutation N188S is associated with myoclonic epilepsy |
|
|
|
|
|
|
|
|
|
| A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy |
|
|
|
|
|
|
|
|
|
| Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and “modifier” polymorphisms |
|
|
|
|
|
|
|
|
|
| <i>SALL4</i>mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders |
|
|
|
|
|
|
|
|
|
| Strong bias in the location of functional promoter polymorphisms |
|
|
|
|
|
|
|
|
|
| The 5′ region of the<i>MSH2</i>gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences |
|
|
|
|
|
|
|
|
|
| 3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening |
|
|
|
|
|
|
|
|
|
| Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software |
|
|
|
|
|
|
|
|
|
| Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies |
|
|
|
|
|
|
|
|
|
| Functionalin vitro characterization of 14SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease |
|
|
|
|
|
|
✓ |
|
Italian patients |
| Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the<i>LRP5</i>and/or<i>FZD4</i>genes |
|
|
|
|
|
|
|
|
|
| Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A |
|
|
|
|
|
|
|
|
|
| Evaluation of the molecular mechanisms involved in the gain of function of a Li-FraumeniTP53 Mutation |
|
|
|
|
|
|
|
|
|
| dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods |
|
|
|
|
|
|
|
|
|
| LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach |
|
|
|
|
|
|
|
|
|
| Complex gene rearrangements caused by serial replication slippage |
|
|
|
|
|
|
|
|
|
| The 2004 Human Genome Variation Society scientific meeting |
|
|
|
|
|
|
|
|
|
| Hereditary angioedema: The mutation spectrum of<i>SERPING1/C1NH</i>in a large Spanish cohort |
|
|
|
|
|
|
|
|
|
| A rapid microarray based whole genome analysis for detection of uniparental disomy |
|
|
|
|
|
|
|
|
|
| Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney |
|
|
|
|
|
|
|
|
|
| Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus,MC1R |
|
|
|
|
|
|
|
|
|
| Twenty-six novelEFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) |
|
|
|
|
|
|
|
|
|
| Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) |
|
|
|
|
|
|
|
|
|
| Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis |
|
|
|
|
|
|
|
|
|
| Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome |
|
|
|
|
|
|
|
|
|
| Erratum: Sodium channel gene (SCN5A) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease |
|
|
|
|
|
|
|
|
|
| Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the GJB2 (Connexin 26) gene in Egypt |
|
|
|
|
|
|
|
|
|
| BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension |
|
|
|
|
|
|
|
|
|
| Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations |
|
|
|
|
|
|
|
|
|
| Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2) |
|
|
|
|
|
|
|
|
|
| Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis |
|
|
|
|
|
|
|
|
|
| InSNP: A tool for automated detection and visualization of SNPs and InDels |
|
|
|
|
|
|
|
|
|
| Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification |
|
|
|
|
|
|
|
|
|
| The phenotypic spectrum of<i>COL2A1</i>mutations |
|
|
|
|
|
|
|
|
|
| TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels |
|
|
|
|
|
|
|
|
|
| Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in theRB1 gene |
|
|
|
|
|
|
|
|
|
| Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects |
|
|
|
|
|
|
|
|
|
| Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods |
|
|
|
|
|
|
|
|
|
| Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories |
|
|
|
|
|
|
|
|
|
| ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia |
|
|
|
|
|
|
|
|
|
| Application of genomewide SNP arrays for detection of simulated susceptibility loci |
|
|
|
|
|
|
|
|
|
| TwoATM variants and breast cancer risk |
|
|
|
|
|
|
|
|
|
| High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients |
|
|
|
|
|
|
|
|
|
| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro |
|
|
|
|
|
|
|
|
|
| Functional analysis of natural mutations in two TWIST protein motifs |
|
|
|
|
|
|
|
|
|
| <i>SCN1A</i>mutations and epilepsy |
|
|
|
|
|
|
|
|
|
| Mutations ofCOL10A1 in Schmid metaphyseal chondrodysplasia |
|
|
|
|
|
|
|
|
|
| The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe |
|
|
|
|
|
|
|
|
|
| On ubiquitin ligases and cancer |
|
|
|
|
|
|
|
|
|
| Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia dis |
|
|
|
|
|
|
|
|
|
| A new insight into PMM2 mutations in the French population |
|
|
|
|
|
|
|
|
|
| Conservation of the RBI gene in human and primates |
|
|
|
|
|
|
|
|
|
| Germline mutations of<i>AXIN2</i>are not associated with nonsyndromic colorectal cancer |
|
|
|
|
|
|
|
|
|
| Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) |
|
|
|
|
|
|
|
|
|
| Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis ofSPG4 reveals eleven novel mutations |
|
|
|
|
|
|
|
|
|
| Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY) |
|
|
|
|
|
|
|
|
|
| Nephrogenic diabetes insipidus caused by mutation of Tyr205: A key residue of V2 vasopressin receptor function |
|
|
|
|
|
|
|
|
|
| Characterization of a new disease-causing mutation of<i>SH2D1A</i>in a family with X-linked lymphoproliferative disease |
|
|
|
|
|
|
|
|
|
| Identification of novel mutations in classical galactosemia |
|
|
|
|
|
|
|
|
|
| Alu-element insertion in the homeodomain of<i>HESX1</i>and aplasia of the anterior pituitary |
|
|
|
|
|
|
|
|
|
| Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene |
|
|
|
|
|
|
|
|
|
| <i>eOPA1</i>: An online database for<i>OPA1</i>mutations |
|
|
|
|
|
|
|
|
|
| A separation-free assay for the detection of mutations: Combination of homogeneous time-resolved fluorescence and minisequencing |
|
|
|
|
|
|
|
|
|
| Thirteen novel mutations in the<i>NR0B1</i>(<i>DAX1</i>) gene as cause of adrenal hypoplasia congenita |
|
|
|
|
|
|
|
|
|
| Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss |
|
|
|
|
|
|
|
|
|
| Comparison of PCR-based mutation detection methods and application for identification of mouseSult1a1 mutant embryonic stem cell clones using pooled templates |
|
|
|
|
|
|
|
|
|
| BAC-based PCR fragment microarray: High-resolution detection of chromosomal deletion and duplication breakpoints |
|
|
|
|
|
|
|
|
|
| Genomic rearrangements in theBRCA1 andBRCA2 genes |
|
|
|
|
|
|
|
|
|
| TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature |
|
|
|
|
|
|
|
|
|
| Quantitative analysis of<i>SMN1</i>and<i>SMN2</i>genes based on DHPLC: A highly efficient and reliable carrier-screening test |
|
|
|
|
|
|
|
|
|
| Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method |
|
|
|
|
|
|
|
|
|
| Population spectrum of<i>ACADM</i>genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency |
|
|
|
|
|
|
|
|
|
| KinMutBase: A registry of disease-causing mutations in protein kinase domains |
|
|
|
|
|
|
|
|
|
| Ancient origin of the CAG expansion causing Huntington disease in a Spanish population |
|
|
|
|
|
|
|
|
|
| Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene |
|
|
|
|
|
|
|
|
|
| Identification of ten novel mutations in patients with eIF2B-related disorders |
|
|
|
|
|
|
|
|
|
| Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy |
|
|
|
|
|
|
|
|
|
| Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease |
|
|
|
|
|
|
|
|
|
| Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates |
|
|
|
|
|
|
|
|
|
| Automated splicing mutation analysis by information theory |
|
|
|
|
|
|
|
|
|
| Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1 |
|
|
|
|
|
|
|
|
|
| Identification of novel mutations in patients with Shwachman-Diamond syndrome |
|
|
|
|
|
|
|
|
|
| Conservation of the<i>RB1</i>gene in human and primates |
|
|
|
|
|
|
|
|
|
| Mutation analysis of theHOX paralogous 4-13 genes in children with acute lymphoid malignancies: Identification of a novel germline mutation ofHOXD4 leading to a partial loss-of-function |
|
|
|
|
|
|
|
|
|
| Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis |
|
|
|
|
|
|
|
|
|
| Misprocessing of the<i>CFTR</i>protein leads to mild cystic fibrosis phenotype |
|
|
|
|
|
|
|
|
|
| Gene conversion cetween functional trypsinogen genes<i>PRSS1</i>and<i>PRSS2</i>associated with chronic pancreatitis in a six-year-old girl |
|
|
|
|
|
|
|
|
|
| <i>SIMPLE</i>mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation |
|
|
|
|
|
|
|
|
|
| Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population |
|
|
|
|
|
|
✓ |
|
Hellenic population |
| Polymorphism in the nuclear excision repair geneERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma |
|
|
|
|
|
|
|
|
|
| A response to Suzuki et al. ?How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1 in Knobloch syndrome?? |
|
|
|
|
|
|
|
|
|
| Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles |
|
|
|
|
|
|
|
|
|
| <i>cblE</i>Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression |
|
|
|
|
|
|
|
|
|
| Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 gene |
|
|
|
|
|
|
|
|
|
| Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease |
|
|
|
|
|
|
|
|
|
| How pathogenic is the p.D104N/endostatin polymorphic allele of<i>COL18A1</i>in Knobloch syndrome? |
|
|
|
|
|
|
|
|
|
| Single nucleotide polymorphisms in theMATP gene are associated with normal human pigmentation variation |
|
|
|
|
|
|
|
|
|
| Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis |
|
|
|
|
|
|
|
|
|
| Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage |
|
|
|
|
|
|
|
|
|
| A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency |
|
|
|
|
|
|
|
|
|
| Detection of ?-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography |
|
|
|
|
|
|
|
|
|
| Mutations in the<i>MMAA</i>Gene in Patients With the<i>cblA</i>Disorder of Vitamin B<sub>12</sub>Metabolism |
|
|
|
|
|
|
|
|
|
| Novel somatic mutations in the BRCA1 gene in sporadic breast tumors |
|
|
|
|
|
|
|
|
|
| Two novel mutations of the AIRE protein affecting its homodimerization properties |
|
|
|
|
|
|
|
|
|
| Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis |
|
|
|
|
|
|
|
|
|
| Hepatic manifestation is associated withALK1 in hereditary hemorrhagic telangiectasia: Identification of five novelALK1 and one novelENG mutations |
|
|
|
|
|
|
|
|
|
| Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia |
|
|
|
|
|
|
|
|
|
| Twelve novel<i>JAG1</i>gene mutations in polish Alagille syndrome patients |
|
|
|
|
|
|
|
|
|
| Seventeen novel<i>PLP1</i>mutations in patients with Pelizaeus-Merzbacher disease |
|
|
|
|
|
|
|
|
|
| Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI |
|
|
|
|
|
|
|
|
|
| PIK3CA mutations in advanced ovarian carcinomas |
|
|
|
|
|
|
|
|
|
| Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients |
|
|
|
|
|
|
|
|
|
| P gene mutations associated with oculocutaneous albinism type II (OCA2) |
|
|
|
|
|
|
|
|
|
| Large genomic rearrangements in MECP2 |
|
|
|
|
|
|
|
|
|
| Two independent retrotransposon insertions at the same site within the coding region of BTK |
|
|
|
|
|
|
|
|
|
| Spectrum ofUGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation |
|
|
|
|
|
|
|
|
|
| Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study |
|
|
|
|
|
|
|
|
|
| Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases |
|
|
|
|
|
|
|
|
|
| MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET) |
|
|
|
|
|
|
|
|
|
| Algorithm for efficient<i>PKHD1</i>mutation screening in autosomal recessive polycystic kidney disease (ARPKD) |
|
|
|
|
|
|
|
|
|
| PolyMAPr: Programs for polymorphism database mining, annotation, and functional analysis |
|
|
|
|
|
|
|
|
|
| Spectrum of sequence variations in the
<i>FANCA</i>
gene: An International Fanconi Anemia Registry (IFAR) study |
|
|
|
|
|
|
|
|
|
| Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C (
<i>ADH1C</i>
) gene expression |
|
|
|
|
|
|
|
|
|
| DNA damage detection and repair, and the involvement of epigenetic states |
|
|
|
|
|
|
|
|
|
| Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide |
|
|
|
|
|
|
|
|
|
| Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage |
|
|
|
|
|
|
|
|
|
| Toward the evaluation of function in genetic variability: Characterizing human SNP frequencies and establishing BAC‐transgenic mice carrying the human<i>CYP1A1_CYP1A2</i>locus |
|
|
|
|
|
|
|
|
|
| A common haplotype at the 5′ end of the<i>RET</i>proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression |
|
|
|
|
|
|
|
|
|
| Functional significance of a deep intronic mutation in the
<i>ATM</i>
gene and evidence for an alternative exon 28a |
|
|
|
|
|
|
|
|
|
| <i>Retracted</i>
: Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy |
|
|
|
|
|
|
✓ |
|
Italian patients |
| A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype |
|
|
|
|
|
|
|
|
|
| Erratum: Germline mutations in
<i>MLH1</i>
,
<i>MSH2</i>
and
<i>MSH6</i>
in Korean hereditary non‐polyposis colorectal cancer fa |
|
|
|
|
|
|
✓ |
|
Korean |
| Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study |
|
|
|
|
|
|
|
|
|
| Distinct novel mutations affecting the same base in the
<i>NIPA1</i>
gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families |
|
|
|
|
|
|
|
|
|
| Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by
<i>mut</i>
° and
<i>mut</i>
– forms of methylmalonic ac |
|
|
|
|
✓ |
|
|
|
European patients |
| Characterization of genotype–phenotype relationships and stratification by the
<i>CARD15</i>
variant genotype for inflammatory bowel disease susceptibility loci using multiple |
|
|
|
|
|
|
|
|
|
| A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity |
|
|
|
|
|
|
|
|
|
| Erratum: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients |
|
|
|
|
|
|
✓ |
|
Hispanic; African American |
| Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy |
|
|
|
|
|
|
|
|
|