sameAs
Foxe3 haploinsufficiency in mice: a model for Peters' anomalyNuclear accumulation of full-length and truncated adenomatous polyposis coli protein in tumor cells depends on proliferationAnalyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumoursLocalization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locusAutosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa geneA cluster of genes located in 1p36 are down-regulated in neuroblastomas with poor prognosis, but not due to CpG island methylationCollecting a set of psoriasis family material through a patient organisation; clinical characterisation and presence of additional disorders.Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell deathMutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian familiesMyosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with ageLinkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I familiesRNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma.Comprehensive SNP array study of frequently used neuroblastoma cell lines; copy neutral loss of heterozygosity is common in the cell lines but uncommon in primary tumorsEstimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma.Genetic counselling in psoriasis: empirical data on psoriasis among first-degree relatives of 3095 psoriatic probands.Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS).High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene.Analysis of chromosome band 1p36 alterations by chromosomal in situ suppression hybridization with a microclone DNA bank.Verification of genes differentially expressed in neuroblastoma tumours: a study of potential tumour suppressor genesA new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma.Dilated cardiomyopathy and the dystrophin gene: an illustrated reviewHigh-risk neuroblastoma tumors with 11q-deletion display a poor prognostic, chromosome instability phenotype with later onset.Identification of epigenetically regulated genes that predict patient outcome in neuroblastomaA mutation in POLE predisposing to a multi-tumour phenotype.Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors.The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.Screening for gene mutations in a 500 kb neuroblastoma tumor suppressor candidate region in chromosome 1p; mutation and stage-specific expression in UBE4B/UFD2.Neuroblastoma after childhood: prognostic relevance of segmental chromosome aberrations, ATRX protein status, and immune cell infiltrationLocalization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids.Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas.Tumor development, growth characteristics and spectrum of genetic aberrations in the TH-MYCN mouse model of neuroblastoma.Genetic instability and intratumoral heterogeneity in neuroblastoma with MYCN amplification plus 11q deletion.Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation.Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene
P50
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P50
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Zweeds onderzoeker
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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Tommy Martinsson
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P1015
P1015
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J-4140-2013
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P3829
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0000-0002-9403-3123
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1956-01-01T00:00:00Z
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