about
Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin geneGenomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3)Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosisLocalization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patientsFISH-mapping of a 100-kb terminal 22q13 deletionSequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosisNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayDifferent NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicityHuman estrogen receptor beta-gene structure, chromosomal localization, and expression patternSpectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosisCharacterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosisIsolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13High expression of the EGFR in fibroadenomas compared to breast carcinomas4th Pediatric Allergy and Asthma Meeting (PAAM)Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningiomaThe aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and languageA high degree of aneuploidy in frozen-thawed human preimplantation embryos.Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes.Complete characterization of a large marker chromosome by reverse and forward chromosome painting.A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes.Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus.Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes.Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter.Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in SwedenGossypol induces DNA strand breaks in human fibroblasts and sister chromatid exchanges in human lymphocytes in vitro.Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.Mitotic recombination of chromosome 17 in astrocytomas.Tumor suppressor genes (TSG).Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.The biology of inherited cancer.Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor.Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.Assignment of the human FAU gene to a subregion of chromosome 11q13.Cloning and characterization of a novel human gene related to vascular endothelial growth factor.Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis
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description
Zweeds onderzoeker
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researcher
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taighdeoir
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հետազոտող
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name
Magnus Nordenskjöld
@ast
Magnus Nordenskjöld
@en
Magnus Nordenskjöld
@es
Magnus Nordenskjöld
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Magnus Nordenskjöld
@nl
Magnus Nordenskjöld
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Magnus Nordenskjöld
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type
label
Magnus Nordenskjöld
@ast
Magnus Nordenskjöld
@en
Magnus Nordenskjöld
@es
Magnus Nordenskjöld
@ga
Magnus Nordenskjöld
@nl
Magnus Nordenskjöld
@sl
Magnus Nordenskjöld
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prefLabel
Magnus Nordenskjöld
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Magnus Nordenskjöld
@en
Magnus Nordenskjöld
@es
Magnus Nordenskjöld
@ga
Magnus Nordenskjöld
@nl
Magnus Nordenskjöld
@sl
Magnus Nordenskjöld
@sq
P108
P106
P21
P27
P31
P496
0000-0002-4974-425X