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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: marshall jd. 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: marshall jd. 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: 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.
Alström syndrome is associated with short stature and reduced GH reserve.
Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R. Romano S, et al. Among authors: marshall jd. Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26. Clin Endocrinol (Oxf). 2013. PMID: 23445176 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. Among authors: marshall jd. Clin Endocrinol (Oxf). 2007 Feb;66(2):269-75. doi: 10.1111/j.1365-2265.2007.02721.x. Clin Endocrinol (Oxf). 2007. PMID: 17223998
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: marshall jd. 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.
426 results