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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationExpansion of the fragile X CGG repeat in females with premutation or intermediate allelesXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneAssociation between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian originLeiden Open Variation Database of the MUTYH gene.Single cell analysis of mutations in the APC gene.Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control studySerum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome.Biallelic MUTYH mutations can mimic Lynch syndromePolymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implicationsApplication of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAn American founder mutation in MLH1.Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindredWhat is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisAbsence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.Respiratory chain deficiency in nonmitochondrial disease.MethyQESD, a robust and fast method for quantitative methylation analyses in HNPCC diagnostics using formalin-fixed and paraffin-embedded tissue samples.Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databaseMitochondrial dysfunction in liver failure requiring transplantation.NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeColorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T.Primary mucinous adenocarcinoma of the vermiform appendix with high grade microsatellite instability.Clinical and neuropathological findings in patients with TACO1 mutations.
P50
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P50
description
onderzoeker
@nl
name
Elke Holinski-Feder
@ast
Elke Holinski-Feder
@en
Elke Holinski-Feder
@es
Elke Holinski-Feder
@nl
Elke Holinski-Feder
@sl
type
label
Elke Holinski-Feder
@ast
Elke Holinski-Feder
@en
Elke Holinski-Feder
@es
Elke Holinski-Feder
@nl
Elke Holinski-Feder
@sl
prefLabel
Elke Holinski-Feder
@ast
Elke Holinski-Feder
@en
Elke Holinski-Feder
@es
Elke Holinski-Feder
@nl
Elke Holinski-Feder
@sl