2019
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions. American Journal Of Medical Genetics Part A 2019, 179: 2469-2473. PMID: 31566882, PMCID: PMC7914397, DOI: 10.1002/ajmg.a.61362.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersBiopsyChildEczemaExome SequencingFemaleFucosyltransferasesGenetic Association StudiesGenetic Predisposition to DiseaseHumansImmunohistochemistryLoss of Function MutationPhenotypePigmentation DisordersConceptsDowling-Degos diseasePhenotypic expansionMosaic disordersFunction mutationsDistinct clinical presentationsSomatic copy-neutral lossGermline heterozygous mutationsWhole-exome sequencingClinical presentationEczematous plaquesFollicular papulesAffected skinSkin diseasesBlaschko's linesCopy-neutral lossHeterozygous mutationsReticulated hyperpigmentationExome sequencingNormal keratinocytesPostzygotic mutationDisordersExpression levelsSomatic mutationsLesionsKeratinocytes
2009
Inherited and acquired predispositions for thrombosis in immunocompetent patients with cytomegalovirus-associated thrombosis
Atzmony L, Grosfeld A, Saar N, Justo D. Inherited and acquired predispositions for thrombosis in immunocompetent patients with cytomegalovirus-associated thrombosis. European Journal Of Internal Medicine 2009, 21: 2-5. PMID: 20122604, DOI: 10.1016/j.ejim.2009.10.002.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedCytomegalovirus InfectionsFemaleGenetic Predisposition to DiseaseHumansImmunocompetenceMaleMiddle AgedRisk FactorsThrombophiliaThrombosisYoung AdultConceptsImmunocompetent adultsInherited predispositionImmunocompetent patientsFactor V Leiden mutationV Leiden mutationThrombosis risk factorsImmunocompromised patientsInherited thrombophiliaOral contraceptivesCase seriesCase reportElderly patientsClinical circumstancesThrombosisClinical importanceRisk factorsPatientsPredispositionComplicationsCMVAdultsReportsThrombophiliaContraceptionInfants