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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; 1993–2024.
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
Alstrom syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.
Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P.
Endocrine. 2021 Mar;71(3):618-625. doi: 10.1007/s12020-021-02643-y. Epub 2021 Feb 10.
PMID:33566311
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
Unraveling Alstrom syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA.
Mol Genet Genomic Med. 2024 Jan;12(1):e2314. doi: 10.1002/mgg3.2314. Epub 2023 Nov 8.
PMID:37937857
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
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