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706 results

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Page 1
Analysis of the human VPS13 gene family.
Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Velayos-Baeza A, et al. Among authors: monaco ap. Genomics. 2004 Sep;84(3):536-49. doi: 10.1016/j.ygeno.2004.04.012. Genomics. 2004. PMID: 15498460
Alternative splicing in the dyslexia-associated gene KIAA0319.
Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP. Velayos-Baeza A, et al. Among authors: monaco ap. Mamm Genome. 2007 Sep;18(9):627-34. doi: 10.1007/s00335-007-9051-3. Epub 2007 Sep 11. Mamm Genome. 2007. PMID: 17846832
Chorein detection for the diagnosis of chorea-acanthocytosis.
Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Dobson-Stone C, et al. Among authors: monaco ap. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Among authors: monaco ap. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112
Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.
Mehta ZB, Fine N, Pullen TJ, Cane MC, Hu M, Chabosseau P, Meur G, Velayos-Baeza A, Monaco AP, Marselli L, Marchetti P, Rutter GA. Mehta ZB, et al. Among authors: monaco ap. Am J Physiol Endocrinol Metab. 2016 Aug 1;311(2):E488-507. doi: 10.1152/ajpendo.00074.2016. Epub 2016 Jun 21. Am J Physiol Endocrinol Metab. 2016. PMID: 27329800 Free PMC article.
706 results