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Vici syndrome in siblings born to consanguineous parents.
Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A. Tasdemir S, et al. Among authors: cayir a. Am J Med Genet A. 2016 Jan;170A(1):220-5. doi: 10.1002/ajmg.a.37398. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26395118 Review.
Combined occurrence of Alström syndrome and bronchiectasis.
Kaya A, Orbak Z, Cayir A, Döneray H, Tasdemir S, Ozantürk A, Bingöl F. Kaya A, et al. Among authors: cayir a. Pediatrics. 2014 Mar;133(3):e780-3. doi: 10.1542/peds.2013-0284. Epub 2014 Feb 17. Pediatrics. 2014. PMID: 24534407
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
Tasdemir S, Sahin I, Cayır A, Doneray H, Solomon BD, Muenke M, Yuce I, Tatar A. Tasdemir S, et al. Among authors: cayir a. J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):777-81. doi: 10.1515/jpem-2013-0449. J Pediatr Endocrinol Metab. 2014. PMID: 24706429
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A. Tasdemir S, et al. Among authors: cayir a. Genet Couns. 2015;26(4):415-23. Genet Couns. 2015. PMID: 26852512
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study.
Akıncı A, Türkkahraman D, Tekedereli İ, Özer L, Evren B, Şahin İ, Kalkan T, Çürek Y, Çamtosun E, Döğer E, Bideci A, Güven A, Eren E, Sangün Ö, Çayır A, Bilir P, Törel Ergür A, Ercan O. Akıncı A, et al. Among authors: cayir a. J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):341-349. doi: 10.4274/jcrpe.galenos.2019.2019.0021. Epub 2019 Apr 17. J Clin Res Pediatr Endocrinol. 2019. PMID: 30991789 Free PMC article.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK. Ozantürk A, et al. Among authors: cayir a. J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. J Hum Genet. 2015. PMID: 25296579 Free PMC article. Review.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. White JJ, et al. Among authors: cayir a. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276006 Free PMC article.
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.
Sherif M, Demirbilek H, Çayır A, Tahir S, Çavdarlı B, Demiral M, Cebeci AN, Vurallı D, Rahman SA, Unal E, Büyükyılmaz G, Baran RT, Özbek MN, Hussain K. Sherif M, et al. Among authors: cayir a. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):34-43. doi: 10.4274/jcrpe.galenos.2020.2020.0152. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938580 Free PMC article.
122 results