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Page 1
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Utine GE, Haliloğlu G, Volkan-Salancı B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: alikasifoglu m. Eur J Paediatr Neurol. 2014 May;18(3):327-37. doi: 10.1016/j.ejpn.2014.01.004. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24508361
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Simsek-Kiper PO, et al. Among authors: alikasifoglu m. Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063090
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. Simsek-Kiper PO, et al. Among authors: alikasifoglu a, alikasifoglu m. Am J Med Genet A. 2019 Jul;179(7):1157-1172. doi: 10.1002/ajmg.a.61154. Epub 2019 Apr 13. Am J Med Genet A. 2019. PMID: 30980518
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K. Akgun-Dogan O, et al. Among authors: alikasifoglu m. Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4. Am J Med Genet A. 2019. PMID: 31584751
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E, Simsek-Kiper PÖ, Koşukcu C, Taşkıran EZ, Göçmen R, Utine E, Haliloğlu G, Boduroğlu K, Alikaşifoğlu M. Kındış E, et al. Among authors: alikasifoglu m. Am J Med Genet A. 2021 Jun;185(6):1888-1896. doi: 10.1002/ajmg.a.62179. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33749994
157 results