2022
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience
KAYMAKCALAN H, YALCINKAYA L, NIKEREL E, YALCIN Y, DONG W, Sencıcek A. Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience. Marmara Medical Journal 2022, 35: 159-163. DOI: 10.5472/marumj.1120570.Peer-Reviewed Original ResearchChapter 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
2020
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant. Clinical Dysmorphology 2020, 30: 54-57. PMID: 32969855, DOI: 10.1097/mcd.0000000000000350.Peer-Reviewed Case Reports and Technical Notes
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 analysisTranslocationENTPD1AbnormalitiesBreakpointsSearching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Ercan-Sencicek A, Wright N, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism. Brain And Development 2011, 34: 700-703. PMID: 22178197, PMCID: PMC3343226, DOI: 10.1016/j.braindev.2011.11.003.Peer-Reviewed Case Reports and Technical Notes
2010
Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
Bayrakli F, Bilguvar K, Ceyhan D, Ercan‐Sencicek A, Cankaya T, Bayrakli S, Guney I, Mane S, State M, Gunel M. Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics 2010, 77: 499-502. PMID: 20447154, DOI: 10.1111/j.1399-0004.2010.01411.x.Commentaries, Editorials and Letters