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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium; Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Ozgül RK, et al. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. Am J Hum Genet. 2011. PMID: 21835304 Free PMC article.
Novel Alu retrotransposon insertion leading to Alström syndrome.
Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK. Taşkesen M, et al. Among authors: ozgul rk. Hum Genet. 2012 Mar;131(3):407-13. doi: 10.1007/s00439-011-1083-9. Epub 2011 Aug 30. Hum Genet. 2012. PMID: 21877133 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: ozgul rk. 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.
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: ozgul rk. J Hum Genet. 2015 Jan;60(1):51. doi: 10.1038/jhg.2014.101. J Hum Genet. 2015. PMID: 25619591 No abstract available.
Five novel ALMS1 gene mutations in six patients with Alström syndrome.
Kılınç S, Yücel-Yılmaz D, Ardagil A, Apaydın S, Valverde D, Özgül RK, Güven A. Kılınç S, et al. Among authors: ozgul rk. J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):681-687. doi: 10.1515/jpem-2017-0418. J Pediatr Endocrinol Metab. 2018. PMID: 29715191
Immunodeficiency in a Child with Alström Syndrome.
Ozdemir TR, Karaca NE, Marshall JD, Kutukculer N, Aksu G, Ozgul RK, Ozanturk A, Isik E, Akgun B, Ozdemir HH, Darcan S, Ozkinay F, Cogulu O. Ozdemir TR, et al. Among authors: ozgul rk. Indian J Pediatr. 2018 Oct;85(10):924-926. doi: 10.1007/s12098-018-2740-y. Epub 2018 Aug 28. Indian J Pediatr. 2018. PMID: 30155784 No abstract available.
75 results