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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: maudinas r. 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.
Hepatitis-associated Aplastic Anemia.
Gonnot M, Neumann F, Huet F, Maudinas R, Leblanc T, Lacaille F. Gonnot M, et al. Among authors: maudinas r. J Pediatr Gastroenterol Nutr. 2022 Nov 1;75(5):553-555. doi: 10.1097/MPG.0000000000003603. Epub 2022 Sep 6. J Pediatr Gastroenterol Nutr. 2022. PMID: 36070526
Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France.
de Rougemont A, Kaplon J, Fremy C, Legrand-Guillien MC, Minoui-Tran A, Payan C, Vabret A, Mendes-Martins L, Chouchane M, Maudinas R, Huet F, Dubos F, Hober D, Lazrek M, Bouquignaud C, Decoster A, Alain S, Languepin J, Gillet Y, Lina B, Mekki Y, Morfin-Sherpa F, Guigon A, Guinard J, Foulongne V, Rodiere M, Avettand-Fenoel V, Bonacorsi S, Garbarg-Chenon A, Gendrel D, Lebon P, Lorrot M, Mariani P, Meritet JF, Schnuriger A, Agius G, Beby-Defaux A, Oriot D, Colimon R, Lagathu G, Mory O, Pillet S, Pozzetto B, Stephan JL, Aho S, Pothier P; French National Rotavirus Network. de Rougemont A, et al. Among authors: maudinas r. Clin Microbiol Infect. 2016 Aug;22(8):737.e9-737.e15. doi: 10.1016/j.cmi.2016.05.025. Epub 2016 Jun 7. Clin Microbiol Infect. 2016. PMID: 27287887 Free article.
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
Duclaux-Loras R, Bourgeois P, Lavrut PM, Charbit-Henrion F, Bonniaud-Blot P, Maudinas R, Bournez M, Faure M, Cerf-Bensussan N, Lachaux A, Peretti N, Fabre A. Duclaux-Loras R, et al. Among authors: maudinas r. Clin Res Hepatol Gastroenterol. 2021 Nov;45(6):101640. doi: 10.1016/j.clinre.2021.101640. Epub 2021 Mar 1. Clin Res Hepatol Gastroenterol. 2021. PMID: 33662777
Predictors of response to infliximab in paediatric perianal Crohn's disease.
Dupont-Lucas C, Dabadie A, Alberti C, Ruemmele FM; GETAID (Group d'Etude Thérapeutique des Affections Inflammatoires du Tube Digestif) Pédiatrique. Dupont-Lucas C, et al. Aliment Pharmacol Ther. 2014 Oct;40(8):917-29. doi: 10.1111/apt.12928. Epub 2014 Aug 22. Aliment Pharmacol Ther. 2014. PMID: 25146368 Free article.
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