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Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
J Neuromuscul Dis. 2023;10(5):915-924. doi: 10.3233/JND-230046.
J Neuromuscul Dis. 2023.
PMID: 37355912
Free PMC article.
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case.
Sanrı A, Demir S, Gurkan H.
Sanrı A, et al.
Mol Syndromol. 2023 Apr;14(2):129-135. doi: 10.1159/000524832. Epub 2022 Nov 7.
Mol Syndromol. 2023.
PMID: 37064337
Free PMC article.
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YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.
Sanri A, Mutlu MB, Sezer O.
Sanri A, et al.
Eur J Med Genet. 2023 Jun;66(6):104751. doi: 10.1016/j.ejmg.2023.104751. Epub 2023 Mar 21.
Eur J Med Genet. 2023.
PMID: 36948290
Review.
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Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Günay Ç, Aykol D, Özsoy Ö, Sönmezler E, Hanci YS, Kara B, Akkoyunlu Sünnetçi D, Cine N, Deniz A, Özer T, Ölçülü CB, Yilmaz Ö, Kanmaz S, Yilmaz S, Tekgül H, Yildiz N, Acar Arslan E, Cansu A, Olgaç Dündar N, Kusgoz F, Didinmez E, Gençpinar P, Aksu Uzunhan T, Ertürk B, Gezdirici A, Ayaz A, Ölmez A, Ayanoğlu M, Tosun A, Topçu Y, Kiliç B, Aydin K, Çağlar E, Ersoy Kosvali Ö, Okuyaz Ç, Besen Ş, Tekin Orgun L, Erol İ, Yüksel D, Sezer A, Atasoy E, Toprak Ü, Güngör S, Ozgor B, Karadağ M, Dilber C, Şahinoğlu B, Uyur Yalçin E, Eldes Hacifazlioglu N, Yaramiş A, Edem P, Gezici Tekin H, Yilmaz Ü, Ünalp A, Turay S, Biçer D, Gül Mert G, Dokurel Çetin İ, Kirik S, Öztürk G, Karal Y, Sanri A, Aksoy A, Polat M, Özgün N, Soydemir D, Sarikaya Uzan G, Ülker Üstebay D, Gök A, Yeşilmen MC, Yiş U, Karakülah G, Bursali A, Oktay Y, Hiz Kurul S.
Günay Ç, et al. Among authors: sanri a.
Neuropediatrics. 2023 Aug;54(4):225-238. doi: 10.1055/a-2034-8528. Epub 2023 Feb 14.
Neuropediatrics. 2023.
PMID: 36787800
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Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation.
Demir S, Yaşar Köstek H, Sanrı A, Yıldırım R, Özgüç Çömlek F, Yalçıntepe S, Deveci M, Atlı Eİ, Atlı E, Eker D, Gürkan H, Tütüncüler Kökenli F.
Demir S, et al. Among authors: sanri a.
Mol Syndromol. 2022 Feb;13(2):88-98. doi: 10.1159/000520722. Epub 2022 Jan 7.
Mol Syndromol. 2022.
PMID: 35418823
Free PMC article.
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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, Y…
See abstract for full author list ➔
Dundar M, et al. Among authors: sanri a.
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
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Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.
Demir S, Yalçıntepe S, Atlı Eİ, Sanrı A, Yıldırım R, Tütüncüler F, Çelik M, Atlı E, Özemri Sağ Ş, Eker D, Temel Ş, Gürkan H.
Demir S, et al. Among authors: sanri a.
Genet Test Mol Biomarkers. 2021 Jan;25(1):59-67. doi: 10.1089/gtmb.2020.0169.
Genet Test Mol Biomarkers. 2021.
PMID: 33470886
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Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant.
Sanri A, Gurkan H, Demir S.
Sanri A, et al.
Mol Syndromol. 2020 Jan;10(6):344-347. doi: 10.1159/000504374. Epub 2019 Nov 26.
Mol Syndromol. 2020.
PMID: 32021610
Free PMC article.
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