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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. Among authors: collin gb. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Arch Intern Med. 2005. PMID: 15795345
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.
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.
Alms1-disrupted mice recapitulate human Alström syndrome.
Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. Collin GB, et al. Hum Mol Genet. 2005 Aug 15;14(16):2323-33. doi: 10.1093/hmg/ddi235. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000322 Free PMC article.
93 results