| Identification of 26 new constitutional<i>RB1</i>gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients |
|
|
|
|
|
|
✓ |
|
Spanish, Colombian, and Cuban |
| NovelTMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree |
|
|
|
|
|
|
|
|
|
| Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene |
|
|
|
|
|
|
|
|
|
| Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1 |
|
|
|
|
|
|
|
|
|
| Kallmann syndrome: 14 novel mutations in<i>KAL1</i>and<i>FGFR1</i>(<i>KAL2</i>) |
|
|
|
|
|
|
|
|
|
| The mutational spectrum of<i>ENPP1</i>as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) |
|
|
|
|
|
|
|
|
|
| The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients |
|
|
|
|
|
|
|
|
|
| HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene |
|
|
|
|
|
|
|
|
|
| The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations |
|
|
|
|
|
|
|
|
|
| DNMT3B mutations and DNA methylation defect define two types of ICF syndrome |
|
|
|
|
|
|
|
|
|
| Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (<i>Pan troglodytes</i>) |
|
|
|
|
|
|
|
|
|
| Phenotology of disease-linked proteins |
|
|
|
|
|
|
|
|
|
| Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors |
|
|
|
|
|
|
|
|
|
| <i>KCNJ11</i>activating mutations in Italian patients with permanent neonatal diabetes |
|
|
|
|
|
|
✓ |
|
Italian |
| Reassessment of theTP53 mutation database in human disease by data mining with a library ofTP53 missense mutations |
|
|
|
|
|
|
|
|
|
| A T3 allele in theCFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD) |
|
|
|
|
|
|
|
|
|
| Molecular and muscle pathology in a series of caveolinopathy patients |
|
|
|
|
|
|
|
|
|
| Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia |
|
|
|
|
|
|
|
|
|
| A novel mutation in UDP-<i>N</i>-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site |
|
|
|
|
|
|
|
|
|
| Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C |
|
|
|
|
|
|
|
|
|
| LDL-receptor mutations in Europe |
|
|
|
|
|
|
|
|
|
| Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia |
|
|
|
|
|
|
|
|
|
| Transfer of a mitochondrial DNA fragment toMCOLN1 causes an inherited case of mucolipidosis IV |
|
|
|
|
|
|
|
|
|
| Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients |
|
|
|
|
|
|
|
|
|
| A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a) |
|
|
|
|
|
|
|
|
|
| Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population |
|
|
|
|
|
|
|
|
|
| Mutations in the<i>MMAA</i>gene in patients with the<i>cblA</i>disorder of vitamin B<sub>12</sub>metabolism |
|
|
|
|
|
|
|
|
|
| LargeBRCA1 gene deletions are found in 3% of German high-risk breast cancer families |
|
|
|
|
|
|
|
|
|
| High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging |
✓ |
|
|
|
|
|
|
|
|
| Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: Interaction with the nuclear receptor NR4A3/NOR1 |
|
|
|
|
|
|
|
|
|
| Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 |
|
|
|
|
|
|
|
|
|
| Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene |
|
|
|
|
|
|
|
|
|
| A novel mutation in KCNA1 causes episodic ataxia without myokymia |
|
|
|
|
|
|
|
|
|
| Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions |
|
|
|
|
|
|
|
|
|
| ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) |
|
|
|
|
|
|
|
|
|
| Homeologous recombination between AluSx-sequences as a cause of hemophilia |
|
|
|
|
|
|
|
|
|
| Mutation analysis of<i>NR0B2</i>among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity |
|
|
|
|
|
|
|
|
|
| CRB1 mutation spectrum in inherited retinal dystrophies |
|
|
|
|
|
|
|
|
|
| Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 |
|
|
|
|
|
|
|
|
|
| Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations |
|
|
|
|
|
|
|
|
|
| Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients |
|
|
|
|
|
|
|
|
|
| Mutation analysis ofNR2E3 andNRL genes in Enhanced S Cone Syndrome |
|
|
|
|
|
|
|
|
|
| A point mutation in the lariat branch point of intron 6 ofNPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease |
|
|
|
|
|
|
|
|
|
| Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles |
|
|
|
|
|
|
|
|
|
| Fine mapping and identification of a candidate geneSSH1 in disseminated superficial actinic porokeratosis |
|
|
|
|
|
|
|
|
|
| A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene |
|
|
|
|
|
|
|
|
|
| Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the<i>APC</i>gene |
|
|
|
|
|
|
|
|
|
| Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations |
|
|
|
|
|
|
|
|
|
| Polymorphism analysis within the HLA-A locus by universal oligonucleotide array |
|
|
|
|
|
|
|
|
|
| Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association |
|
|
|
|
|
|
|
|
|
| GJB2: The spectrum of deafness-causing allele variants and their phenotype |
|
|
|
|
|
|
|
|
|
| Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency |
|
|
|
|
|
|
|
|
|
| The role of tau (MAPT) in frontotemporal dementia and related tauopathies |
|
|
|
|
|
|
|
|
|
| Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE |
|
|
|
|
|
|
|
|
|
| Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7) |
|
|
|
|
|
|
|
|
|
| Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders |
|
|
|
|
|
|
|
|
|
| Erratum: Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients |
|
|
|
|
|
|
|
|
|
| BRCA1 andBRCA2 germline mutations in Korean patients with sporadic breast cancer |
|
|
|
|
|
|
|
|
|
| A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase |
|
|
|
|
|
|
|
|
|
| Germline mutations inMLH1,MSH2 andMSH6 in Korean hereditary non-polyposis colorectal cancer families |
|
|
|
|
|
|
|
|
|
| Ten novel<i>MSH2</i>and<i>MLH1</i>germline mutations in families with HNPCC |
|
|
|
|
|
|
|
|
|
| Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis |
|
|
|
|
|
|
|
|
|
| The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype |
|
|
|
|
|
|
✓ |
|
Central Europe |
| Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients |
|
|
|
|
|
|
|
|
|
| Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas |
|
|
|
|
|
|
|
|
|
| RNA analysis reveals splicing mutations and loss of expression defects inMLH1 andBRCA1 |
|
|
|
|
|
|
|
|
|
| IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric ofDAX1 |
|
|
|
|
|
|
|
|
|
| Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity |
|
|
|
|
|
|
|
|
|
| Erratum: Novel MC1R variants in ligurian melanoma patients and controls |
|
|
|
|
|
|
|
|
|
| Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotyp |
|
|
|
|
|
|
|
|
|
| Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene |
|
|
|
|
|
|
|
|
|
| Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11) |
|
|
|
|
|
|
|
|
|
| Erratum:BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension |
|
|
|
|
|
|
|
|
|
| Possible gene dosage effect of glutathione-S-transferases on atopic asthma: Using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers |
|
|
|
|
|
|
|
|
|
| Patterns of CAG repeat interruptions inSCA1 andSCA2 genes in relation to repeat instability |
|
|
|
|
|
|
|
|
|
| TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA |
|
|
|
|
|
|
|
|
|
| The humanFOXL2 mutation database |
|
|
|
|
|
|
|
|
|
| Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions |
|
|
|
|
|
|
|
|
|
| Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation |
|
|
|
|
|
|
|
|
|
| Identification of<i>APC</i>gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization |
|
|
|
|
|
|
|
|
|
| Infevers: An evolving mutation database for auto-inflammatory syndromes |
|
|
|
|
|
|
|
|
|
| Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of<i>in vivo</i>functional in-frame start codon |
|
|
|
|
|
|
|
|
|
| USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II |
|
|
|
|
|
|
|
|
|
| Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2 |
|
|
|
|
|
|
|
|
|
| Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression |
|
|
|
|
|
|
|
|
|
| Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients |
|
|
|
|
|
|
|
|
|
| Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR |
|
|
|
|
|
|
|
|
|
| Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients |
|
|
|
|
|
|
|
|
|
| A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR products |
|
|
|
|
|
|
|
|
|
| Bayesian approach to discovering pathogenic SNPs in conserved protein domains |
|
|
|
|
|
|
|
|
|
| The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutatedCFTR Alleles |
|
|
|
|
|
|
|
|
|
| Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication |
|
|
|
|
|
|
|
|
|
| OrthoDisease: A database of human disease orthologs |
|
|
|
|
|
|
|
|
|
| Lack of correlation between the type of<i>COL1A1</i>or<i>COL1A2</i>mutation and hearing loss in osteogenesis imperfecta patients |
|
|
|
|
|
|
|
|
|
| Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism |
|
|
|
|
|
|
|
|
|
| CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia |
|
|
|
|
|
|
|
|
|
| Comprehensive molecular screening of the<i>FBN1</i>gene favors locus homogeneity of classical Marfan syndrome |
|
|
|
|
|
|
|
|
|
| Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method |
|
|
|
|
|
|
|
|
|
| Novel MC1R variants in Ligurian melanoma patients and controls |
|
|
|
|
|
|
|
|
|
| X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families |
|
|
|
|
✓ |
|
|
|
European families |
| TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts |
|
|
|
|
|
|
|
|
|
| Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate |
|
|
|
|
|
|
|
|
|
| Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1 |
|
|
|
|
|
|
|
|
|
| A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes |
|
|
|
|
|
|
|
|
|
| Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors |
|
|
|
|
|
|
|
|
|
| Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses |
|
|
|
|
|
|
|
|
|
| Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray |
|
|
|
|
|
|
|
|
|
| Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations |
|
|
|
|
|
|
|
|
|
| RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysis |
|
|
|
|
|
|
|
|
|
| Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? |
|
|
|
|
|
|
|
|
|
| The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy |
|
|
|
|
|
|
|
|
|
| Functional analysis of polymorphisms in the promoter regions of genes on 22q11 |
|
|
|
|
|
|
|
|
|
| Haplotypes of the angiotensin II receptor genesAGTR1 andAGTR2 in women with normotensive pregnancy and women with preeclampsia |
|
|
|
|
|
|
|
|
|
| Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the<i>TP53</i>gene on survival in patients with advanced ovarian carcinoma |
|
|
|
|
|
|
|
|
|
| Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse |
|
|
|
|
|
|
|
|
|
| DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications |
|
|
|
|
|
|
|
|
|
| The androgen receptor gene mutations database (ARDB): 2004 update |
|
|
|
|
|
|
|
|
|
| Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients |
|
|
|
|
|
|
|
|
|
| Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1 |
|
|
|
|
|
|
|
|
|
| Seven novel mutations of theADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH) |
|
|
|
|
|
|
|
|
|
| Familial melanoma, pancreatic cancer and germline CDKN2A mutations |
|
|
|
|
|
|
|
|
|
| Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism |
|
|
|
|
|
|
|
|
|
| Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria |
|
|
|
|
|
|
|
|
|
| <i>GJB2</i>mutations in patients with non-syndromic hearing loss from Northeastern Hungary |
|
|
|
|
|
|
|
|
|
| BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension |
|
|
|
|
|
|
|
|
|
| NovelGNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy |
|
|
|
|
|
|
|
|
|
| An improved electronic microarray-based diagnostic assay for identification ofMEFV mutations |
|
|
|
|
|
|
|
|
|
| General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus |
|
|
|
|
|
|
|
|
|
| Functional analysis of 13<i>GBA</i>mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms |
|
|
|
|
|
|
|
|
|
| Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus |
|
|
|
|
|
|
|
|
|
| Branchio-oto-renal syndrome: The mutation spectrum in<i>EYA1</i>and its phenotypic consequences |
|
|
|
|
|
|
|
|
|
| Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer |
|
|
|
|
|
|
|
|
|
| Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency |
|
|
|
|
|
|
|
|
|
| Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene |
|
|
|
|
|
|
|
|
|
| PromoLign: A database for upstream region analysis and SNPs |
|
|
|
|
|
|
|
|
|
| Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A |
|
|
|
|
|
|
|
|
|
| Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1 |
|
|
|
|
|
|
|
|
|
| The androgen receptor gene mutations database (ARDB): 2004 update |
|
|
|
|
|
|
|
|
|
| Identification of a functional mutation in pp32r1 (ANP32C) |
|
|
|
|
|
|
|
|
|
| DNA analysis by MALDI-TOF mass spectrometry |
|
|
|
|
|
|
|
|
|
| The challenge of documenting mutation across the genome: The human genome variation society approach |
|
|
|
|
|
|
|
|
|
| The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants |
|
|
|
|
|
|
|
|
|
| Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003 |
|
|
|
|
|
|
|
|
|
| MLPA and MAPH: New techniques for detection of gene deletions |
|
|
|
|
|
|
|
|
|
| Single-molecule analysis for molecular haplotyping |
|
|
|
|
|
|
|
|
|
| PCR-Based detection of minority point mutations |
|
|
|
|
|
|
|
|
|
| Proofreading genotyping assays and electrochemical detection of SNPs |
|
|
|
|
|
|
|
|
|
| Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis |
|
|
|
|
|
|
|
|
|
| An activated 5? cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation typ |
|
|
|
|
|
|
|
|
|
| Identification of a novel mutation in the coding region of the grey-lethal gene<i>OSTM1</i>in human malignant infantile osteopetrosis |
|
|
|
|
|
|
|
|
|
| PAP: Detection of ultra rare mutations depends on P* oligonucleotides: ?Sleeping Beauties? awakened by the kiss of pyrophosphorolysis |
|
|
|
|
|
|
|
|
|
| Novel mutations in the<i>TRIM37</i>gene in Mulibrey Nanism |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the adenomatous polyposis coli (<i>APC</i>) gene in Danish patients with familial adenomatous polyposis (FAP) |
|
|
|
|
|
|
|
|
|
| A novel splice-site mutation in the common gamma chain (?c) geneIL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| First genotype characterization of Argentinean FAP patients: Identification of 14 novel<i>APC</i>mutations |
|
|
|
|
|
|
|
|
|
| <b>Characterization of seven novel mutations in seven patients with GAMT deficiency</b> |
|
|
|
|
|
|
|
|
|
| Detection of<i>Parkin</i>(<i>PARK2</i>) and<i>DJ1</i>(<i>PARK7</i>) mutations in early-onset Parkinson disease:<i>Parkin</i>mutation frequency depends on ethnic origin of patients |
|
|
|
|
|
|
✓ |
|
ethnic origin |
| Allelic heterogeneity of SMARD1 at the IGHMBP2 locus |
|
|
|
|
|
|
|
|
|
| Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs |
|
|
|
|
|
|
|
|
|
| Human vitamin K-dependent<i>GAS6</i>: Gene structure, allelic variation, and association with stroke |
|
|
|
|
|
|
|
|
|
| OCRLMutation analysis in Italian patients with Lowe syndrome |
|
|
|
|
|
|
✓ |
|
Italian patients |
| Intronic mutations in the<i>L1CAM</i>gene may cause X-linked hydrocephalus by aberrant splicing |
|
|
|
|
|
|
|
|
|
| <i>PKHD1</i>mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) |
|
|
|
|
|
|
|
|
|
| Genetic characterization of myeloperoxidase deficiency in Italy |
|
|
|
|
|
|
|
|
|
| <i>PKHD1</i>mutations in autosomal recessive polycystic kidney disease (ARPKD) |
|
|
|
|
|
|
|
|
|
| Genomic rearrangements in the<i>CFTR</i>gene: Extensive allelic heterogeneity and diverse mutational mechanisms |
|
|
|
|
|
|
|
|
|
| Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis |
|
|
|
|
|
|
|
|
|
| Genetically heterogeneous selective intestinal malabsorption of vitamin B<sub>12</sub>: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle E |
|
|
|
|
|
|
|
|
|
| Identification of a novel candidate gene,<i>CASC2</i>, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer |
|
|
|
|
|
|
|
|
|
| Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome |
|
|
|
|
|
|
|
|
|
| Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the<i>APC</i>and<i>MYH</i>genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations |
|
|
|
|
|
|
|
|
|
| Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients |
|
|
|
|
|
|
|
|
|
| CYLD mutation causes multiple familial trichoepithelioma in three Chinese families |
|
|
|
|
|
|
✓ |
|
Chinese |
| HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis |
|
|
|
|
|
|
✓ |
|
Italian |
| Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR |
|
|
|
|
|
|
|
|
|
| Analysis of the allele-specific expression of the mismatch repair gene<i>MLH1</i>using a simple DHPLC-Based Method |
|
|
|
|
|
|
|
|
|
| Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye |
|
|
|
|
|
|
|
|
|
| Genetic variants ofABCA1 modify Alzheimer disease risk and quantitative traits related to ?-amyloid metabolism |
|
|
|
|
|
|
|
|
|
| Importance of standard nomenclature forSMN1 small intragenic (?subtle?) mutations |
|
|
|
|
|
|
|
|
|
| Genetic variants in a haplotype block spanningIDE are significantly associated with plasma A?42 levels and risk for Alzheimer disease |
|
|
|
|
|
|
|
|
|
| Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France |
|
|
|
|
|
|
|
|
|
| Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly |
|
|
|
|
|
|
|
|
|
| NovelTSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic |
|
|
|
|
|
|
|
|
|
| Wilson disease: Novel mutations in theATP7B gene and clinical correlation in Brazilian patients |
|
|
|
|
|
|
|
|
|
| Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA) |
|
|
|
|
|
|
|
|
|
| The west side story:<i>MEFV</i>haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination “hot-spot” at the<i>MEFV</i>locus |
|
|
|
|
|
|
|
|
|
| Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy |
|
|
|
|
|
|
|
|
|
| The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis |
|
|
|
|
|
|
|
|
|
| Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7) |
|
|
|
|
|
|
|
|
|
| Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR |
|
|
|
|
|
|
|
|
|
| A nicotine<i>C</i>-oxidase gene (<i>CYP2A6</i>) polymorphism important for promoter activity |
|
|
|
|
|
|
|
|
|
| APECED-causing mutations in AIRE reveal the functional domains of the protein |
|
|
|
|
|
|
|
|
|
| Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome |
|
|
|
|
|
|
|
|
|
| Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation |
|
|
|
|
|
|
|
|
|
| Gross rearrangement breakpoint database (GRaBD?) |
|
|
|
|
|
|
|
|
|
| Eight novel<i>MSH6</i>germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue |
|
|
|
|
|
|
|
|
|
| Molecular characterization of familial hypercholesterolemia in German and Greek patients |
|
|
|
|
|
|
|
|
|
| BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia |
|
|
|
|
✓ |
|
|
|
European patients |
| A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype |
|
|
|
|
|
|
|
|
|
| Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome |
|
|
|
|
|
|
|
|
|
| Novel
<i>TP53</i>
gene mutations in tumors of Russian patients with breast cancer detected using a new solid phase chemical cleavage of mismatch method and identified by sequen |
|
|
|
|
|
|
|
|
|
| Screening 500 unselected neurofibromatosis 1 patients for deletions of the
<i>NF1</i>
gene |
|
|
|
|
|
|
|
|
|
| The pedigree tool: Web‐based visualization of a family tree |
|
|
|
|
|
|
|
|
|
| Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy |
|
|
|
|
|
|
|
|
|
| Mutations of
<i>ARX</i>
are associated with striking pleiotropy and consistent genotype–phenotype correlation |
|
|
|
|
|
|
|
|
|
| Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 |
|
|
|
|
|
|
|
|
|
| Context of deletions and insertions in human coding sequences |
|
|
|
|
|
|
|
|
|
| Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (
<i>SPINK1</i>
) cause familial and/or hereditary pancreatitis |
|
|
|
|
|
|
|
|
|
| Novel germline mutations in the
<i>BRCA1</i>
and
<i>BRCA2</i>
genes in Indian breast and breast‐ovarian cancer families |
|
|
|
|
|
|
|
|
|
| The molecular basis of cystathionine ß‐synthase (CBS) deficiency in UK and US patients with homocystinuria |
|
|
|
|
|
|
|
|
|
| Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation |
|
|
|
|
|
|
|
|
|
| Low frequency of deafness‐associated
<i>GJB2</i>
variants in Kenya and Sudan and novel
<i>GJB2</i>
variants |
|
|
|
|
|
|
|
|
|
| Y‐chromosomal microsatellite mutation rates: Differences in mutation rate between and within loci |
|
|
|
|
|
|
|
|
|
| Comprehensive screening for constitutional
<i>RB1</i>
mutations by DHPLC and QMPSF |
|
|
|
|
|
|
|
|
|
| Mitochondrial DNA‐like sequences in the nucleus (NUMTs): Insights into our African origins and the mechanism of foreign DNA integration |
|
|
|
|
|
|
|
|
|
| Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (
<i>NF1</i>
) gene in neurofibromatosis patients with benign and malignant tumors |
|
|
|
|
|
|
|
|
|
| Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD) |
|
|
|
|
|
|
|
|
|
| Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations |
|
|
|
|
|
|
|
|
|
| Five novel mutations in the lysosomal sialidase gene (<i>NEU1</i>) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediate |
|
|
|
|
|
|
|
|
|
| Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin |
|
|
|
|
|
|
|
|
|
| Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) |
|
|
|
|
|
|
|
|
|