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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: collin gb. 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: collin gb. 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.
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Marshall JD, et al. Among authors: collin gb. Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18. Hum Mutat. 2015. PMID: 25846608 Free PMC article.
Caloric restriction in Alström syndrome prevents hyperinsulinemia.
Lee NC, Marshall JD, Collin GB, Naggert JK, Chien YH, Tsai WY, Hwu WL. Lee NC, et al. Among authors: collin gb. Am J Med Genet A. 2009 Feb 15;149A(4):666-8. doi: 10.1002/ajmg.a.32730. Am J Med Genet A. 2009. PMID: 19283853 Free PMC article.
Alström syndrome: genetics and clinical overview.
Marshall JD, Maffei P, Collin GB, Naggert JK. Marshall JD, et al. Among authors: collin gb. Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912. Curr Genomics. 2011. PMID: 22043170 Free PMC article.
93 results