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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: talim b. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: talim b. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. Kayman-Kurekci G, et al. Among authors: talim b. Neuromuscul Disord. 2014 Jul;24(7):624-33. doi: 10.1016/j.nmd.2014.04.007. Epub 2014 May 2. Neuromuscul Disord. 2014. PMID: 24856141
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: talim b. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799
Calpain-3 mutations in Turkey.
Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P. Balci B, et al. Among authors: talim b. Eur J Pediatr. 2006 May;165(5):293-8. doi: 10.1007/s00431-005-0046-3. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411092
Prenatal diagnosis of muscle-eye-brain disease.
Balci B, Morris-Rosendahl DJ, Celebi A, Talim B, Topaloglu H, Dinçer P. Balci B, et al. Among authors: talim b. Prenat Diagn. 2007 Jan;27(1):51-4. doi: 10.1002/pd.1622. Prenat Diagn. 2007. PMID: 17154333
150 results