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Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G. Lemoine R, et al. Among authors: ruemmele f. J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28. J Allergy Clin Immunol. 2014. PMID: 25174867
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
Intestinal epithelial dysplasia (tufting enteropathy).
Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Goulet O, et al. Among authors: ruemmele f. Orphanet J Rare Dis. 2007 Apr 20;2:20. doi: 10.1186/1750-1172-2-20. Orphanet J Rare Dis. 2007. PMID: 17448233 Free PMC article. Review.
Digestive histopathological presentation of IPEX syndrome.
Patey-Mariaud de Serre N, Canioni D, Ganousse S, Rieux-Laucat F, Goulet O, Ruemmele F, Brousse N. Patey-Mariaud de Serre N, et al. Among authors: ruemmele f. Mod Pathol. 2009 Jan;22(1):95-102. doi: 10.1038/modpathol.2008.161. Epub 2008 Sep 26. Mod Pathol. 2009. PMID: 18820676 Free article.
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
216 results