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Alvarez-Satta M, Castro-Sanchez S, Valverde D. Alstr\u00f6m syndrome: current perspectives. Appl Clin Genet 8: 171-179, 2015.","DOI":"10.2147\/TACG.S56612"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. K\u0131l\u0131n\u00e7 S, Y\u00fccel-Y\u0131lmaz D, Ardagil A, et al. Five novel ALMS1 gene mutations in six patients with Alstr\u00f6m syndrome. Pediatr Endocrinol Metab 6: 681-687, 2018.","DOI":"10.1515\/jpem-2017-0418"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Marshall JD, Maffei P, Collin GB, et al. Alstr\u00f6m syndrome: genetics and clinical overview. Curr Genomics 3: 225-235, 2011.","DOI":"10.2174\/138920211795677912"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Marshall JD, Muller J, Collin GB, et al. Alstr\u00f6m syndrome: Mutation Spectrum of ALMS1. Hum Mutat 36: 660-668, 2015.","DOI":"10.1002\/humu.22796"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Jianyi Y, Yang Z. 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Mol Genet Metab 121: 336-343, 2017.","DOI":"10.1016\/j.ymgme.2017.05.017"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Collin GB, Marshall JD, Cardon LR, et al. Homozygosity mapping at Alstr\u00f6m syndrome to chromosome 2p. Hum Mol Genet 2: 213-219, 1997.","DOI":"10.1093\/hmg\/6.2.213"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. K\u0131l\u0131n\u00e7 S, Y\u00fccel-Y\u0131lmaz D, Ardagil A, et al. Five novel ALMS1 gene mutations in six patients with Alstr\u00f6m syndrome. Pediatr Endocrinol Metab 6: 681-687, 2018.","DOI":"10.1515\/jpem-2017-0418"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Hearn T. ALMS1 and Alstr\u00f6m syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. Mol Med (Berl) 1: 1-17, 2019.","DOI":"10.1007\/s00109-018-1714-x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr\u00f6m syndrome. Nat Genet 1: 74-78, 2002.","DOI":"10.1038\/ng867"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Tsai MC, Yu HW, Liu T, et al. Rare compound heterozygous frameshift mutations in ALMS1 gene identified through exome sequencing in a Taiwanese patient with Alstr\u00f6m syndrome. Front Genet 18: 110, 2018.","DOI":"10.3389\/fgene.2018.00110"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Marshall JD, Muller J, Collin GB, et al. Alstr\u00f6m Syndrome: Mutation Spectrum of ALMS1. Hum Mutat 36: 2015.","DOI":"10.1002\/humu.22796"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Shenje LT, Andersen P, Halushka MK, et al. Mutations in Alstr\u00f6m protein impair terminal differentiation of cardiomyocytes. Nat Commun 5: 3416, 2014.","DOI":"10.1038\/ncomms4416"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Das Bhowmik A, Gupta N, Dalal A, et al. Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obes Res Clin Pract 2: 241-246, 2017.","DOI":"10.1016\/j.orcp.2016.09.004"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Edwards NC, Moody WE, Yuan M, et al. Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alstr\u00f6m Syndrome: an observational study. Orphanet J Rare Dis 10: 83, 2015.","DOI":"10.1186\/s13023-015-0292-z"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstr\u00f6m syndrome. Nat Genet 31: 79-83, 2002.","DOI":"10.1038\/ng874"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Li G, Vega R, Nelms K, et al. A role for Alstr\u00f6m syndrome, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 3: e8, 2007.","DOI":"10.1371\/journal.pgen.0030008"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Nesmith JE, Hostelley TL, Leitch CC, et al. Genomic knockout of alms1 in zebrafish recapitulates Alstr\u00f6m syndrome and provides insight into metabolic phenotypes. Hum Mol Genet 28: 2212-2223, 2019.","DOI":"10.1093\/hmg\/ddz053"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Liu L, Dong B, Chen X, et al. Identification of a novel ALMS1 mutation in a Chinese family with Alstr\u00f6m syndrome. Eye (Lond) 23: 1210-1212, 2009.","DOI":"10.1038\/eye.2008.235"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Ozant\u00fcrk A, Marshall JD, Collin GB, et al. The phenotypic and molecular genetic spectrum of Alstr\u00f6m syndrome in 44 Turkish kindreds and a literature review of Alstr\u00f6m syndrome in Turkey. J Hum Genet 60: 51, 2015.","DOI":"10.1038\/jhg.2014.101"},{"key":"23","unstructured":"23. Pi\u00f1eiro-Gallego T, Cort\u00f3n M, Ayuso C, Baiget M, Valverde D. Molecular approach in the study of Alstr\u00f6m syndrome: analysis of ten Spanish families. Mol Vis 18: 1794-1802, 2012."},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Weiss S, Cohen L, Ben-Yosef T, Ehrenberg M, Goldenberg-Cohen N. Late diagnosis of Alstr\u00f6m syndrome in a Yemenite-Jewish child. Ophthalmic Genet 40: 7-11, 2019.","DOI":"10.1080\/13816810.2018.1561900"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Ottens F, Gehring NH. Physiological and pathophysiological role of nonsense-mediated mRNA decay. Pflugers Arch 468: 1013-1028, 2016.","DOI":"10.1007\/s00424-016-1826-5"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Baig S, Veeranna V, Bolton S, et al. Treatment with PBI-4050 in patients with Alstr\u00f6m syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial. BMC Endocr Disord 18: 88, 2018.","DOI":"10.1186\/s12902-018-0315-6"},{"key":"27","doi-asserted-by":"publisher","unstructured":"27. Nagel-Wolfrum K, Moller F, Penner I, et al. Targeting nonsense mutations in diseases with translational read-through-inducing drugs (TRIDs). BioDrugs 30: 49-74, 2016.","DOI":"10.1007\/s40259-016-0157-6"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Linde L, Boelz S, Nissim-Rafinia M, et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. 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