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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: taskesen m. 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.
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. 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: taskesen m. J Hum Genet. 2015 Jan;60(1):51. doi: 10.1038/jhg.2014.101. J Hum Genet. 2015. PMID: 25619591 No abstract available.
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. Lai-Cheong JE, et al. Among authors: taskesen m. Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11. Br J Dermatol. 2009. PMID: 19120339 Review.
22 results