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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.
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
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.
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: marshall jd. 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.
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.
Brain involvement in Alström syndrome.
Citton V, Favaro A, Bettini V, Gabrieli J, Milan G, Greggio NA, Marshall JD, Naggert JK, Manara R, Maffei P. Citton V, et al. Among authors: marshall jd. Orphanet J Rare Dis. 2013 Feb 13;8:24. doi: 10.1186/1750-1172-8-24. Orphanet J Rare Dis. 2013. PMID: 23406482 Free PMC article.
421 results