| Large deletions in the polycystic kidney disease 1 (PKD1) gene |
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| VSD: A database for schizophrenia candidate genes focusing on variations |
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| Pyrosequencing?-based SNP allele frequency estimation in DNA pools |
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| A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency |
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| Haplotypes ofCYP3A4 and their close linkage withCYP3A5 haplotypes in a Japanese population |
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✓ |
|
Japanese population |
| First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: Identification of a loss-of-function variant |
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| Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths |
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| Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) |
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| Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locus |
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| DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients |
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| Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II |
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| Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database |
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| Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location |
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| Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency |
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| Detection of thirty novel<i>FBN1</i>mutations in patients with Marfan syndrome or a related fibrillinopathy |
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| Variants inTNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection |
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| Cystathionine?-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype |
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| POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions |
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| Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>) |
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| CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-rime PCR |
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| Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in<i>ATP7A</i> |
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| Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA |
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| A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit genePDHA1 |
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| Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome |
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| Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations |
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| Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency |
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| NDP gene mutations in 14 French families with Norrie disease |
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| Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot |
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| Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects |
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| SomaticNF1 mutation spectra in a family with neurofibromatosis type 1: Toward a theory of genetic modifiers |
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| DHPLC analysis of potassium ion channel genes in congenital long QT syndrome |
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| Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele |
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| Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France |
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| Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene |
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| Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 |
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| Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema |
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| Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein |
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| Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations |
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| Identification of variants inNFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients |
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| Single nucleotide polymorphisms and haplotype frequencies ofCYP3A5 in a Japanese population |
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| Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family |
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| Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease |
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| Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy |
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| A Novel PTPN11 mutation in LEOPARD syndrome |
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| The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations |
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| Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population |
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| Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot |
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| Genotyping microarray (gene chip) for the<i>ABCR</i>(<i>ABCA4</i>) gene |
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| Molecular pathology of NEU1 gene in sialidosis |
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| Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe |
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| Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion |
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| High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography |
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| The<i>RET</i>C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes |
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| DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg |
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| Glucokinase (<i>GCK</i>) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy |
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| The molecular basis of glutamate formiminotransferase deficiency |
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| Genetic variation in a haplotype block spanningIDE influences Alzheimer disease |
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|
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| Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY) |
✓ |
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|
✓ |
|
|
|
European Caucasians |
| Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease |
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| Mutational analysis of<i>BRCA1</i>and<i>BRCA2</i>in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations |
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|
✓ |
|
Mediterranean Spanish women |
| Ten novel mutations in<i>VMD2</i>associated with Best macular dystrophy (BMD) |
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|
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| Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) |
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| Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth |
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| Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families |
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| ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors |
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| <i>BUB1</i>infrequently mutated in human breast carcinomas |
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| Identification of a frequent variant inALG6, the cause of Congenital Disorder of Glycosylation-Ic |
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|
|
| Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i> |
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| Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease |
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|
|
| Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders |
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|
| Analysis of<i>BRCA1</i>and<i>BRCA2</i>genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects |
|
|
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|
✓ |
|
Spanish |
| MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency |
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|
| Rapid detection of ?-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC |
|
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|
|
| RNA analysis of eight<i>BRCA1</i>and<i>BRCA2</i>unclassified variants identified in breast/ovarian cancer families from Spain |
|
|
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|
|
| Mutational analysis of theAGL gene: Five novel mutations in GSD III patients |
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|
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|
| Mutation spectrum of human<i>SLC39A4</i>in a panel of patients with acrodermatitis enteropathica |
|
|
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|
|
| Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young |
|
|
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|
|
| Spectrum ofFANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant |
|
|
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|
|
|
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|
|
| Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations |
|
|
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|
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|
|
| The E148QMEFV allele is not implicated in the development of familial Mediterranean fever |
|
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|
| CFTR genotypes in patients with normal or borderline sweat chloride levels |
|
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|
|
| Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions |
|
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|
|
| Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients |
|
|
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|
|
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|
|
| Update of the UMD-<i>FBN1</i>mutation database and creation of an<i>FBN1</i>polymorphism database |
|
|
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|
|
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|
|
| Genotyping African haplotypes in ATM using a co-spotted single-base extension assay |
|
|
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|
✓ |
|
African |
| Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients |
|
|
|
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|
|
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|
|
| Trimethylaminuria and a humanFMO3 mutation database |
|
|
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|
|
| Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends |
|
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|
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|
|
| Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs |
|
|
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|
|
| Negligible validation rate for public domain stop-codon SNPs |
|
|
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|
|
| PTEN: One Gene, Many Syndromes |
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|
|
| Standardizing mutation nomenclature: Why bother? |
|
|
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|
|
| Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study |
|
|
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|
|
|
|
|
|
| ATM gene alterations in childhood acute lymphoblastic leukemias |
|
|
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|
|
|
|
|
|
| Association analysis of novelTBX21 variants with asthma phenotypes |
|
|
|
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|
|
| Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density |
|
|
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|
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|
|
| Identification and characterization of genomic rearrangements ofMSH2 andMLH1 in Lynch syndrome (HNPCC) by novel techniques |
|
|
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|
|
|
|
|
|
| Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female |
|
|
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|
|
| CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs |
|
|
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|
|
| Twenty-three novelBRCA1 andBRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany |
|
|
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|
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|
|
| Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect |
|
|
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|
|
| Mutational analysis of the<i>BRCA1</i>-interacting genes<i>ZNF350/ZBRK1</i>and<i>BRIP1</i>/<i>BACH1</i>among<i>BRCA1</i>and<i>BRCA2</i>-negative probands from breast-ovarian cancer families and among |
|
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|
|
| Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij |
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|
|
| Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease |
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| Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique |
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|
|
| Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome |
|
|
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|
|
| Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 |
|
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|
|
| Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer |
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|
|
| A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene |
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|
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| Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in<i>POLG</i>and<i>C10orf2/Twinkle</i> |
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|
|
| Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip |
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|
|
| Detection and assignment ofTP53 mutations in tumor DNA using peptide mass signature genotyping |
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|
|
| Detection of mitochondrial DNA mutations in gestational trophoblastic disease |
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|
| Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease |
|
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|
|
| Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore |
|
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|
|
| Four novel mutations inAPOB causing heterozygous and homozygous familial hypobetalipoproteinemia |
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|
|
| BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy |
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|
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|
|
| Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation |
|
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|
|
|
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|
|
| Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients |
|
|
|
|
|
|
✓ |
|
Italian |
| The 342-kb deletion in<i>GJB6</i>is not present in patients with non-syndromic hearing loss from Austria |
|
|
|
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|
✓ |
|
patients from Austria |
| Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitus |
|
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|
|
| Determination of SMN1 and SMN2 copy number using TaqMan™ technology |
|
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|
| A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation inBRCA1 |
|
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|
|
|
|
| Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency |
|
|
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|
|
|
| Spectrum of<i>CLN6</i>mutations in variant late infantile neuronal ceroid lipofuscinosis |
|
|
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|
|
| Enhanced allele-specific PCR discrimination in SNP genotyping using 3? locked nucleic acid (LNA) primers |
|
|
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|
|
| Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients |
|
|
|
|
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|
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|
|
| Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay |
|
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|
|
| Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate |
|
|
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|
|
| One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B |
|
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|
|
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|
|
| Denaturing HPLC analysis of DNA deletions and insertions |
|
|
|
|
|
|
|
|
|
| A phylogenetic approach to assessing the significance of missense mutations in disease genes |
|
|
|
|
|
|
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|
|
| The molecular basis of glutamate formiminotransferase deficiency |
|
|
|
|
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|
|
| Epigenetic detection of human chromosome 14 uniparental disomy |
|
|
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|
|
| Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S |
|
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|
|
| Screening for large rearrangements of the<i>BRCA1</i>gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method |
|
|
|
|
|
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|
|
| Six novel mutations of theRUNX2 gene in Italian patients with cleidocranial dysplasia |
|
|
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|
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|
|
| The analysis ofBRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives |
|
|
|
|
|
|
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|
|
| Prion susceptibility and protective alleles exhibit marked geographic differences |
|
|
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|
|
| Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland |
|
|
|
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|
✓ |
|
Celtic origin |
| Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene |
|
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|
|
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|
|
| Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide |
|
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|
|
| Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency |
|
|
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|
|
| Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations |
|
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|
| Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update |
|
|
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|
|
| Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms |
|
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|
|
| Pseudoexon activation in theDMD gene as a novel mechanism for Becker muscular dystrophy |
|
|
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|
|
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|
|
| Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay |
|
|
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|
|
| Mutation analysis in patients with N-acetylglutamate synthase deficiency |
|
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|
| De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy |
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| AnABCA4 genomic deletion in patients with Stargardt disease |
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| A novel splice site mutation in theTRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity |
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| A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7 |
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| Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH |
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| Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy |
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| Incorrect headers and abstracts inHuman Mutation, Volume 21, Issue 1, January 2003 |
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| Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening |
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| Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome |
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| Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approach |
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| Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation |
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| RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution |
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| Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency |
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| Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer |
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| Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis |
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| Germline TP53 Mutations and Li-Fraumeni Syndrome |
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| A Novel mutation L619F in the cardiac Na channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating |
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| Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating |
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Oriental variants |
| Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene |
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| BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland |
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| Molecular variation of human HSP90α and HSP90β genes in Caucasians |
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| Functional consequences of an<i>LMNA</i>mutation associated with a new cardiac and non-cardiac phenotype |
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| Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia |
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| IVS10–6T>G, an ancient ATM germline mutation linked with breast cancer |
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| ATM gene alterations in childhood acute lymphoblastic leukemias |
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| Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population |
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| The molecular basis of phenylalanine hydroxylase deficiency in Croatia |
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| Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations |
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| Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes |
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| Human growth hormone 1 (<i>GH1</i>) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region |
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| Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature |
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| Phenylketonuria mutations in Europe |
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| Genetic diversity within the R408W phenylketonuria mutation lineages in Europe |
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| Mitochondrial DNA mutation correlates with stage progression and prognosis in non-small cell lung cancer |
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| HowPAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression |
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| Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in<i>PAH</i> |
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| Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus |
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| PAHdb 2003: What a locus-specific knowledgebase can do |
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| Mutations in theAUH gene cause 3-methylglutaconic aciduria type I |
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| A role for overdominant selection in phenylketonuria? Evidence from molecular data |
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| Focus on the molecular genetics of phenylketonuria |
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| The molecular basis of phenylketonuria in Lithuania |
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| The molecular basis of phenylketonuria in Latvia |
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| Mutational spectrum in German patients with phenylalanine hydroxylase deficiency |
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| Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency |
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| Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset |
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| Germline mutations in the<i>BRCA1</i>and<i>BRCA2</i>genes in Turkish breast/ovarian cancer patients |
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| A double missense variation of theBUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T |
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| Identification of six novel<i>MSH2</i>and<i>MLH1</i>germline mutations in HNPCC |
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| Identification of seven novel mutations in theGAN gene |
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| Genetic analysis of familial colorectal cancer in Israeli Arabs |
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| Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene |
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| Mutational analysis of<i>BRCA2</i>in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations |
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| Novel<i>MLH1</i>and<i>MSH2</i>germline mutations in the first HNPCC families identified in Slovakia |
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| Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations |
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| Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia |
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| Identification of novel SNPs in the interleukin 6 receptor gene (IL6R) |
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| Bruton tyrosine kinase gene mutations in Argentina |
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| Mutations in the human homologue ofDrosophila patched in Japanese nevoid basal cell carcinoma syndrome patients |
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| Haplotype analysis of the<i>BRCA2</i>9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain |
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| Mutation analysis in 16 patients with mtDNA depletion |
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| TP53 mutations in familial breast cancer: Functional aspects |
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| TP53 mutation in colorectal cancer |
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| DisruptingTP53 in mouse models of human cancers |
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| TP53 and head and neck neoplasms |
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| TP53 mutations in human skin cancers |
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| GermlineTP53 mutations and Li-Fraumeni syndrome |
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| The UMD-p53 database: New mutations and analysis tools |
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| TP53 in hematological cancer: Low incidence of mutations with significant clinical relevance |
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| TP53 family members and human cancers |
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| TP53 and liver carcinogenesis |
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| TheTP53 gene, tobacco exposure, and lung cancer |
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| TP53 and gastric carcinoma: A review |
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| TP53 and ovarian cancer |
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| TP53 mutations in workers exposed to occupational carcinogens |
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| <i>TP53</i>and breast cancer |
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| Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides |
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| Focus on the p53 gene and cancer: Advances inTP53 mutation research |
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| The role of TP53 in Cervical carcinogenesis |
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| Absence of exon 15BRAF germline mutations in familial melanoma |
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| Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology |
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| Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency |
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| Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes |
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| Missense mutations in the DNA-binding region and termination codon in PAX6 |
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| The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research |
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| Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study |
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| Mutations in theCACNA1F andNYX genes in British CSNBX families |
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| Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation |
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| Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene |
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| Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance |
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| BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer |
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| NF1 gene analysis based on DHPLC |
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| Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients |
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| Comprehensive scanning of theATM gene with DOVAM-S |
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| High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method |
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| Novel mutations in the<i>TCIRG1</i>gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis |
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| Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease |
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| MEFV sequence variants and amyloidosis: still an enigmatic question |
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