Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor geneThe functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionlessCohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportThe role of microRNA genes in papillary thyroid carcinomaMutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IRevised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityThe clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsHow do we approach the goal of identifying everybody with Lynch syndrome?PMS2 monoallelic mutation carriers: the known unknownCharacterization of a new chronic lymphocytic leukemia cell line for mechanistic in vitro and in vivo studies relevant to diseaseThirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaPD-1 Blockade in Tumors with Mismatch-Repair DeficiencyAllelic variation in gene expression in thyroid tissueThe frequency of Muir-Torre syndrome among Lynch syndrome familiesBaalc, a marker of mesoderm and muscleEvaluation of allele-specific somatic changes of genome-wide association study susceptibility alleles in human colorectal cancersDiscovery of common variants associated with low TSH levels and thyroid cancer riskMutations Predisposing to Hereditary Nonpolyposis Colorectal CancerRisks of Lynch syndrome cancers for MSH6 mutation carriers.Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinicsVariants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.Reprogramming of miRNA networks in cancer and leukemia.Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic studyPatients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.Clinical relevance of microsatellite instability in colorectal cancer.Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.Allele-specific expression of TGFBR1 in colon cancer patients.Hypermethylation, but not LOH, is associated with the low expression of MT1G and CRABP1 in papillary thyroid carcinoma.Intronic miR-3151 within BAALC drives leukemogenesis by deregulating the TP53 pathway.Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.Biallelic MUTYH mutations can mimic Lynch syndromeGene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53Somatic acquisition and signaling of TGFBR1*6A in cancer.The Olympic Games and Athletic Sex Assignment.Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).The incidence of Lynch syndrome.Germline allele-specific expression of DAPK1 in chronic lymphocytic leukemia.
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subject
description
Finnish professor emeritus of ...... f science (Academy of Finland)
@en
Fins klinische genetica
@nl
finländsk genetiker
@sv
finnischer Genetiker
@de
genetista finlandés
@es
suomalainen lääketieteellisen ...... akateemikko (Suomen Akatemia)
@fi
xenetista finlandés
@ast
عالم وراثة فنلندي
@ar
name
Albert de la Chapelle den yngre
@de
Albert de la Chapelle den yngre
@sv
Albert de la Chapelle
@ast
Albert de la Chapelle
@ca
Albert de la Chapelle
@en
Albert de la Chapelle
@es
Albert de la Chapelle
@fi
Albert de la Chapelle
@fr
Albert de la Chapelle
@ga
Albert de la Chapelle
@nl
type
label
Albert de la Chapelle den yngre
@de
Albert de la Chapelle den yngre
@sv
Albert de la Chapelle
@ast
Albert de la Chapelle
@ca
Albert de la Chapelle
@en
Albert de la Chapelle
@es
Albert de la Chapelle
@fi
Albert de la Chapelle
@fr
Albert de la Chapelle
@ga
Albert de la Chapelle
@nl
altLabel
de la Chapelle, Albert Fredrik
@en
de la Chapelle, Albert
@en
prefLabel
Albert de la Chapelle den yngre
@de
Albert de la Chapelle den yngre
@sv
Albert de la Chapelle
@ast
Albert de la Chapelle
@ca
Albert de la Chapelle
@en
Albert de la Chapelle
@es
Albert de la Chapelle
@fi
Albert de la Chapelle
@fr
Albert de la Chapelle
@ga
Albert de la Chapelle
@nl
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0000 0003 7389 3690