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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Ruemmele FM, et al. Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224. Hum Mutat. 2010. PMID: 20186687
Irreversible intestinal failure.
Goulet O, Ruemmele F, Lacaille F, Colomb V. Goulet O, et al. J Pediatr Gastroenterol Nutr. 2004 Mar;38(3):250-69. doi: 10.1097/00005176-200403000-00006. J Pediatr Gastroenterol Nutr. 2004. PMID: 15076623 Review.
Autoimmune enteropathy: molecular concepts.
Ruemmele FM, Brousse N, Goulet O. Ruemmele FM, et al. Curr Opin Gastroenterol. 2004 Nov;20(6):587-91. doi: 10.1097/00001574-200411000-00014. Curr Opin Gastroenterol. 2004. PMID: 15703687
Microvillous inclusion disease (microvillous atrophy).
Ruemmele FM, Schmitz J, Goulet O. Ruemmele FM, et al. Orphanet J Rare Dis. 2006 Jun 26;1:22. doi: 10.1186/1750-1172-1-22. Orphanet J Rare Dis. 2006. PMID: 16800870 Free PMC article. Review.
199 results