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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: maffei p. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
Characterization of the IGF system in 15 patients with Alström syndrome.
Maffei P, Boschetti M, Marshall JD, Paisey RB, Beck S, Resmini E, Collin GB, Naggert JK, Milan G, Vettor R, Minuto F, Sicolo N, Barreca A. Maffei P, et al. Clin Endocrinol (Oxf). 2007 Feb;66(2):269-75. doi: 10.1111/j.1365-2265.2007.02721.x. Clin Endocrinol (Oxf). 2007. PMID: 17223998
Clinical utility gene card for: Alström syndrome.
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB. Marshall JD, et al. Among authors: maffei p. 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.
ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.
Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R. Zulato E, et al. Among authors: maffei p. PLoS One. 2011 Apr 26;6(4):e19081. doi: 10.1371/journal.pone.0019081. PLoS One. 2011. PMID: 21541333 Free PMC article.
The progression from obesity to type 2 diabetes in Alström syndrome.
Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R. Bettini V, et al. Among authors: maffei p. Pediatr Diabetes. 2012 Feb;13(1):59-67. doi: 10.1111/j.1399-5448.2011.00789.x. Epub 2011 Jul 3. Pediatr Diabetes. 2012. PMID: 21722283 Free PMC article.
Alström syndrome: cardiac magnetic resonance findings.
Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F, Milan G, Maffei P. Corbetti F, et al. Among authors: maffei p. Int J Cardiol. 2013 Aug 20;167(4):1257-63. doi: 10.1016/j.ijcard.2012.03.160. Epub 2012 Apr 10. Int J Cardiol. 2013. PMID: 22498418 Free PMC article.
173 results