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Page 1
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T. Baig S, et al. Among authors: barrett t. Nephrol Dial Transplant. 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. Nephrol Dial Transplant. 2020. PMID: 30307515
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Minton JA, et al. Among authors: barrett tg. J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. doi: 10.1210/jc.2005-2633. Epub 2006 May 23. J Clin Endocrinol Metab. 2006. PMID: 16720663
Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Tahani N, et al. Among authors: barrett t. Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. Orphanet J Rare Dis. 2020. PMID: 32958032 Free PMC article.
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.
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.
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: barrett tg. 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.
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