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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: stephenne x. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM. Paganelli M, et al. Among authors: stephenne x. J Pediatr Gastroenterol Nutr. 2011 Sep;53(3):350-4. doi: 10.1097/MPG.0b013e3182169433. J Pediatr Gastroenterol Nutr. 2011. PMID: 21865982 No abstract available.
Clinical Protocol to Prevent Thrombogenic Effect of Liver-Derived Mesenchymal Cells for Cell-Based Therapies.
Coppin L, Najimi M, Bodart J, Rouchon MS, van der Smissen P, Eeckhoudt S, Dahlqvist G, Castanares-Zapatero D, Komuta M, Brouns SL, Baaten CC, Heemskerk JWM, Horman S, Belmonte N, Sokal E, Stéphenne X. Coppin L, et al. Among authors: stephenne x. Cells. 2019 Aug 7;8(8):846. doi: 10.3390/cells8080846. Cells. 2019. PMID: 31394759 Free PMC article.
Acute Hepatitis of Unknown Etiology Among Young Children: Research Agenda by the ESPGHAN Hepatology Committee.
Indolfi G, Czubkowski P, Fitzpatrick E, Gonzales E, Gupte G, Mancell S, Mozer-Glassberg Y, Nicastro E, Norman J, Stephenne X, Zellos A, Samyn M. Indolfi G, et al. Among authors: stephenne x. J Pediatr Gastroenterol Nutr. 2022 Oct 1;75(4):543-548. doi: 10.1097/MPG.0000000000003567. Epub 2022 Sep 20. J Pediatr Gastroenterol Nutr. 2022. PMID: 35848740
95 results