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Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
New Alström syndrome phenotypes based on the evaluation of 182 cases.
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. Marshall JD, et al. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Arch Intern Med. 2005. PMID: 15795345
Clinical utility gene card for: Alström syndrome.
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB. Marshall JD, et al. Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.72. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522186 Free PMC article. No abstract available.
Alström syndrome: genetics and clinical overview.
Marshall JD, Maffei P, Collin GB, Naggert JK. Marshall JD, et al. Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912. Curr Genomics. 2011. PMID: 22043170 Free PMC article.
Clinical utility gene card for: Alström Syndrome - update 2013.
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.61. Epub 2013 Apr 24. Eur J Hum Genet. 2013. PMID: 23612576 Free PMC article. No abstract available.
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: marshall rp, marshall jd. 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. 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.
421 results