2018
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.Peer-Reviewed Original ResearchConceptsMidaortic syndromeWhole-exome sequencingExome sequencingVascular diseaseMonogenic causesExtensive vascular diseaseSevere childhood hypertensionGenotype/phenotype correlationChildhood hypertensionRare causeEtiologic diagnosisInflammatory diseasesAbdominal aortaMolecular genetic diagnosisGenetic syndromesSyndromic diseaseWhole-exome sequencing dataDiseaseSyndromePhenotype correlationGenetic diagnosisExome sequencing dataDiagnosisCauseHigh percentage
1990
Hypereosinophilic syndrome with evolution to myeloproliferative disorder: temporal relationship to loss of Y chromosome and c-N-ras activation.
Needleman S, Mane S, Gutheil J, Kapil V, Heyman M, Testa J. Hypereosinophilic syndrome with evolution to myeloproliferative disorder: temporal relationship to loss of Y chromosome and c-N-ras activation. Hematopathology And Molecular Hematology 1990, 4: 149-55. PMID: 2258361.Peer-Reviewed Original ResearchMeSH KeywordsAdultBase SequenceDNA, NeoplasmDNA, Single-StrandedEosinophiliaGene Expression Regulation, NeoplasticGenes, rasHumansKaryotypingLeukemia, MyeloidLongitudinal StudiesMaleMolecular Sequence DataMyeloproliferative DisordersPolymerase Chain ReactionSex Chromosome AberrationsSyndromeTime FactorsY ChromosomeConceptsChronic myeloid leukemicY chromosome lossN-ras activationSubstitution of glycineRas activationChromosome lossY chromosomeMyeloid differentiationCodon 12 GGenetic lesionsTransversion mutationsC transversion mutationsMarrow failureMolecular biologic analysesBiologic analysisActivationChromosomesMyeloproliferative syndrome