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Page 1
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Westenberger A, et al. Among authors: bozdogan s. Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781603 No abstract available.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Kiraz A, Sezer O, Alemdar A, Canbek S, Duman N, Bisgin A, Cora T, Ruhi HI, Ergoren MC, Geçkinli BB, Sag SO, Gözden HE, Oz O, Altıntaş ZM, Yalcıntepe S, Keskin A, Tak AY, Paskal ŞA, Yürekli UF, Demirtas M, Evren EU, Hanta A, Başdemirci M, Suer K, Balta B, Kocak N, Karabulut HG, Cobanogulları H, Ateş EA, Bozdoğan ST, Eker D, Ekinci S, Nergiz S, Tuncalı T, Yagbasan S, Alavanda C, Kutlay NY, Evren H, Erdoğan M, Altıner S, Sanlidag T, Gonen GA, Vicdan A, Eras N, Eker HK, Balasar O, Tuncel G, Dundar M, Gurkan H, Temel SG. Kiraz A, et al. Among authors: bozdogan st. J Med Virol. 2023 Feb;95(2):e28457. doi: 10.1002/jmv.28457. J Med Virol. 2023. PMID: 36597901
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G; Baylor-Hopkins Center for Mendelian Genomics; Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR. Duan R, et al. Among authors: bozdogan s. HGG Adv. 2022 Aug 4;3(4):100132. doi: 10.1016/j.xhgg.2022.100132. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36035248 Free PMC article.
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.
Duman N, Tuncel G, Bisgin A, Bozdogan ST, Sag SO, Gul S, Kiraz A, Balta B, Erdogan M, Uyanik B, Canbek S, Ata P, Geckinli BB, Arslan Ates E, Alavanda C, Yesim Ozdemir S, Sezer O, Ozgon GO, Gurkan H, Guler K, Boga I, Kaya N, Alemdar A, Sayan M, Dundar M, Ergoren MC, Temel SG. Duman N, et al. Among authors: bozdogan st. J Med Virol. 2022 Nov;94(11):5225-5243. doi: 10.1002/jmv.27976. Epub 2022 Jul 22. J Med Virol. 2022. PMID: 35811452 Free PMC article.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A, Sag SO, Dogan ME, Yildirim MS, Gumus AA, Akkus N, Balasar O, Durmaz CD, Eroz R, Altiner S, Alemdar A, Aliyeva L, Boga I, Cam FS, Dogan B, Esbah O, Hanta A, Mujde C, Ornek C, Ozer S, Rencuzogullari C, Sonmezler O, Bozdogan ST, Dundar M, Temel SG. Bisgin A, et al. Among authors: bozdogan st. Breast. 2022 Oct;65:15-22. doi: 10.1016/j.breast.2022.06.005. Epub 2022 Jun 21. Breast. 2022. PMID: 35753294 Free PMC article.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Orsini A, et al. Among authors: bozdogan s. Genes (Basel). 2022 Jan 30;13(2):276. doi: 10.3390/genes13020276. Genes (Basel). 2022. PMID: 35205321 Free PMC article.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Yalcinte… See abstract for full author list ➔ Dundar M, et al. Among authors: bozdogan st. Funct Integr Genomics. 2022 Jun;22(3):291-315. doi: 10.1007/s10142-021-00819-3. Epub 2022 Jan 31. Funct Integr Genomics. 2022. PMID: 35098403
A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome.
Ipek R, Bozdogan ST, Kömür M, Okuyaz C. Ipek R, et al. Among authors: bozdogan st. J Pediatr Genet. 2021 Dec 13;13(2):144-148. doi: 10.1055/s-0041-1740457. eCollection 2024 Jun. J Pediatr Genet. 2021. PMID: 38721571 Free PMC article.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Among authors: bozdogan s. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
42 results