2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics 2014, 46: 1135-1139. PMID: 25217960, PMCID: PMC4177367, DOI: 10.1038/ng.3066.Peer-Reviewed Original Research
2009
Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian patients (pts) with 5-FU and capecitabine (CAP)-related toxicity
Podoltsev N, Saif M. Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian patients (pts) with 5-FU and capecitabine (CAP)-related toxicity. Journal Of Clinical Oncology 2009, 27: e14588-e14588. DOI: 10.1200/jco.2009.27.15_suppl.e14588.Peer-Reviewed Original ResearchDeleterious mutationsCommon deleterious mutationSequence variationSequence analysisFull sequence analysisGenetic variantsMutationsFull sequencingDihydropyrimidine dehydrogenase gene polymorphismsDPYD mutationsGenetics laboratoriesSimple identificationDPYDDPYD geneGenesD949VSequencingDNAEnzymeToxicityIVS14CatabolismSequencePolymorphismBlood cells