Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Autor: Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre

Publikováno v: In The American Journal of Human Genetics 1 March 2018 102(3):364-374

Nonconventionalmesocaval prosthetic shunt interposition in refractory case with portal hypertension in a 10-kg female infant

Autor: Salman, Ghazwani, Delarue, Arnauld, Roquelaure, Bertrand

Publikováno v: Annals of Pediatric Surgery; Vol 14, No 1 (2018); 39-41

Surgical treatment of portal hypertension in infants is challenging because of the high risk of shunt thrombosis. A 10-kg female infant underwent six failed procedures before being successfully treated by interposition of a 10-mm-diameter prosthetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::8cbe38f303df4907719cb0b5b361968e
https://www.ajol.info/index.php/aps/article/view/167070

Recipient/donor contradictory genotypes with impact on drug pharmacogenetics after liver transplant

Autor: Serdjebi, Cindy, Ciccolini, Joseph, Fina, Frederic, Delarue, Arnauld, Verschuur, Arnauld, Lacarelle, Bruno, Ouafik, L’Houcine, André, Nicolas

Publikováno v: Pharmacogenetics and Genomics
Pharmacogenetics and Genomics, 2014, 24 (10), pp.527-529. ⟨10.1097/FPC.0000000000000076⟩
Pharmacogenetics and Genomics, Lippincott, Williams & Wilkins, 2014, 24 (10), pp.527-529. ⟨10.1097/FPC.0000000000000076⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::88cc83106b1b3706b75345b433ab6642
https://hal-amu.archives-ouvertes.fr/hal-01707809

Ganglioneuromatose iléo-colique diffuse avec hypersécrétion de peptide vaso-intestinal chez un nourrisson : une manifestation inaugurale exceptionnelle d’une NF1

Autor: Kadri, Malik, Fabre, Alexandre, Coze, Carole, Daniel, Laurent, Petit, Philippe, Sigaudy, Sabine, Pinson, Stéphane, Bouvier, Corinne, Delarue, Arnauld, Fernandez, Carla

Publikováno v: In Annales de Pathologie February 2012 32(1):58-64

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