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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
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
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.
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.