2022
Chapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes
Ercan-Sencicek A, Chennappan S, Aromalaran K, Kontaridis M. Chapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes. 2022, 65-110. DOI: 10.1016/b978-0-323-85765-9.00007-2.ChaptersCostello syndromeNoonan syndromeInducible pluripotent stem cellsMultiple lentiginesDistinct disease characteristicsRare autosomal dominant diseaseNonhuman model systemsAutosomal dominant diseaseStem cellsAnimal model systemsPluripotent stem cellsClinical presentationDisease characteristicsTherapeutic efficacySyndromeGermline mutationsDominant diseaseNeurodevelopmental defectsRAS-PI3KAkt signalingDisease mechanismsRAS-mitogen-activated protein kinaseDisordersPatientsDifferential activation
2011
A balanced t(10;15) translocation in a male patient with developmental language disorder
Ercan-Sencicek AG, Wright N, Sanders SJ, Oakman N, Valdes L, Bakkaloglu B, Doyle N, Yrigollen CM, Morgan TM, Grigorenko EL. A balanced t(10;15) translocation in a male patient with developmental language disorder. European Journal Of Medical Genetics 2011, 55: 128-131. PMID: 22266071, PMCID: PMC3322462, DOI: 10.1016/j.ejmg.2011.12.005.Peer-Reviewed Case Reports and Technical NotesConceptsLanguage disordersDevelopmental language disorderMale patientsMale childrenCytogenetic findingsPhysical abnormalitiesDisordersChildren's parentsSitu hybridization analysisSample of individualsFurther evidenceDe novoClone mappingPatientsHybridization analysisTranslocationENTPD1AbnormalitiesBreakpoints