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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: alikasifoglu m. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Aktas D, et al. Among authors: alikasifoglu m. Mol Cytogenet. 2010 May 28;3(1):10. doi: 10.1186/1755-8166-3-10. Mol Cytogenet. 2010. PMID: 20509907 Free PMC article.
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
157 results