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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Schaffer AE, et al. Among authors: bilguvar k. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. Nat Genet. 2018. PMID: 30013181 Free PMC article.
Genetics of intracranial aneurysms.
Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. Nahed BV, et al. Among authors: bilguvar k. Neurosurgery. 2007 Feb;60(2):213-25; discussion 225-6. doi: 10.1227/01.NEU.0000249270.18698.BB. Neurosurgery. 2007. PMID: 17290171 Review.
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Bilguvar K, et al. Nat Genet. 2008 Dec;40(12):1472-7. doi: 10.1038/ng.240. Epub 2008 Nov 9. Nat Genet. 2008. PMID: 18997786 Free PMC article.
COL4A1 mutation in preterm intraventricular hemorrhage.
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR; Pacifier and Breastfeeding Trial Group. Bilguvar K, et al. J Pediatr. 2009 Nov;155(5):743-5. doi: 10.1016/j.jpeds.2009.04.014. J Pediatr. 2009. PMID: 19840616 Free PMC article.
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. Bilguvar K, et al. Am J Med Genet A. 2009 Nov;149A(11):2569-72. doi: 10.1002/ajmg.a.33063. Am J Med Genet A. 2009. PMID: 19876906 No abstract available.
157 results