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Alstrom syndrome 相关文献:
Alstrom Syndrome.
Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M.
2003 Feb 7 [updated 2019 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301444
Ciliopathy: Alstrom Syndrome.
Tsang SH, Aycinena ARP, Sharma T.
Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35.
PMID:30578508
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alstrom syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J.
Lancet Diabetes Endocrinol. 2022 Dec;10(12):859-868. doi: 10.1016/S2213-8587(22)00277-7. Epub 2022 Nov 7.
PMID:36356613
A review of Alstrom syndrome: a rare monogenic ciliopathy.
Choudhury AR, Munonye I, Sanu KP, Islam N, Gadaga C.
Intractable Rare Dis Res. 2021 Nov;10(4):257-262. doi: 10.5582/irdr.2021.01113.
PMID:34877237
Alstrom syndrome: current perspectives.
Álvarez-Satta M, Castro-Sánchez S, Valverde D.
Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. eCollection 2015.
PMID:26229500
Genotype-phenotype associations in Alstrom syndrome: a systematic review and meta-analysis.
Bea-Mascato B, Valverde D.
J Med Genet. 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175.
PMID:37321834
Alstrom Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.
Yonago Acta Med. 2024 May 21;67(2):93-99. doi: 10.33160/yam.2024.05.010. eCollection 2024 May.
PMID:38803594
Consensus clinical management guidelines for Alstrom 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.
Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8.
PMID:32958032
Alstrom syndrome: insights into the pathogenesis of metabolic disorders.
Girard D, Petrovsky N.
Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210. Epub 2010 Dec 7.
PMID:21135875
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK.
Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17.
PMID:17940554
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