Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Fabienne Toutain"'
Autor:
Allison F. O’Neill, Angela Trobaugh-Lotrario, James I. Geller, Eiso Hiyama, Kenichiro Watanabe, Isabelle Aerts, Brice Fresneau, Fabienne Toutain, Michael J. Sullivan, Howard M. Katzenstein, Bruce Morland, Sophie Branchereau, József Zsiros, Rudolf Maibach, Marc Ansari
Publikováno v:
EClinicalMedicine, Vol 69, Iss , Pp 102446- (2024)
Summary: Liver tumors account for approximately 2% of all pediatric malignancies. Children with advanced stages of hepatoblastoma (HB) are cured only 50–70% of the time while children with advanced hepatocellular carcinoma (HCC) have a
Externí odkaz:
https://doaj.org/article/42c5ffa719204affb45100312339861c
Autor:
Véronique Picard, Corinne Guitton, Isabelle Thuret, Christian Rose, Laurence Bendelac, Kaldoun Ghazal, Patricia Aguilar-Martinez, Catherine Badens, Claire Barro, Claire Bénéteau, Claire Berger, Pascal Cathébras, Eric Deconinck, Jacques Delaunay, Jean-Marc Durand, Nadia Firah, Frédéric Galactéros, Bertrand Godeau, Xavier Jaïs, Jean-Pierre de Jaureguiberry, Camille Le Stradic, François Lifermann, Robert Maffre, Gilles Morin, Julien Perrin, Valérie Proulle, Marc Ruivard, Fabienne Toutain, Agnès Lahary, Loïc Garçon
Publikováno v:
Haematologica, Vol 104, Iss 8 (2019)
We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a KCNN4 mutation, five had the recurrent p.Arg352His m
Externí odkaz:
https://doaj.org/article/9ac46b6e28d84c27925f98425e20b6c3
Autor:
Jean Donadieu, Marie Lamant, Claire Fieschi, Flore Sicre de Fontbrune, Aurélie Caye, Marie Ouachee, Blandine Beaupain, Jacinta Bustamante, Hélène A. Poirel, Bertrand Isidor, Eric Van Den Neste, Antoine Neel, Stanislas Nimubona, Fabienne Toutain, Vincent Barlogis, Nicolas Schleinitz, Thierry Leblanc, Pierre Rohrlich, Felipe Suarez, Dana Ranta, Wadih Abou Chahla, Bénédicte Bruno, Louis Terriou, Sylvie Francois, Bruno Lioure, Guido Ahle, Françoise Bachelerie, Claude Preudhomme, Eric Delabesse, Hélène Cave, Christine Bellanné-Chantelot, Marlène Pasquet
Publikováno v:
Haematologica, Vol 103, Iss 8 (2018)
Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and Belgium, with a follow up of 22
Externí odkaz:
https://doaj.org/article/513e4f473e844dbbb6cc5aae5c186c60
Autor:
Noémie Wagner, Frederic Baleydier, Fabienne Toutain, Arnaud G L'Huillier, Anne-Marie Calza, Charlotte Leclercq, Céline Lironi, Marc Ansari, Geraldine Blanchard-Rohner
Publikováno v:
Journal of Pediatric Hematology/Oncology
Journal of pediatric hematology/oncology, Vol. 43, No 8 (2021) pp. e1177-e1180
Journal of pediatric hematology/oncology, Vol. 43, No 8 (2021) pp. e1177-e1180
Coronavirus disease-2019 in children has been linked to various clinical presentation, from paucisymptomatic cutaneous eruptions, to multisystemic inflammatory syndrome. We report the case of an 8-year-old boy who presented with persistent fever and
Autor:
Anne Lambilliotte, Nathalie Aladjidi, Jean-François Emile, Geneviève Plat, Sébastien Héritier, Anne Lutun, Mohamed-Aziz Barkaoui, Eric Jeziorski, Caroline Thomas, Fabienne Toutain, J. Donadieu, Despina Moshous, Abdelatif Tazi, Marion Gillibert-Yvert, Kamila Kebaili, Anne Pagnier, Ludovic Mansuy, Damien Bodet, Frédéric Millot, Pascale Schneider, Guy Leverger, Yves Reguerre, Emma Queheille, Hélène Pacquement, Natacha Entz-Werle
Publikováno v:
British Journal of Haematology
British Journal of Haematology, Wiley, 2020, 191 (5), pp.825-834. ⟨10.1111/bjh.16944⟩
British Journal of Haematology, Wiley, 2020, 191 (5), pp.825-834. ⟨10.1111/bjh.16944⟩
International audience; The nucleoside analogue, 2-chlorodeoxyadenosine (2CDA), was reported to be an active treatment for childhood Langerhans cell histiocytosis (LCH) without risk organ (RO−) involvement. However, we lack data on long-term effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68bc4a27943ea42c12c2f59a6c67d99
https://hal.archives-ouvertes.fr/hal-03109204
https://hal.archives-ouvertes.fr/hal-03109204
Autor:
Agnès Lahary, Jean-Pierre de Jaureguiberry, Fabienne Toutain, Véronique Picard, Patricia Aguilar-Martinez, Bertrand Godeau, Xavier Jaïs, Catherine Badens, Robert Maffre, Christian Rose, Isabelle Thuret, François Lifermann, Corinne Guitton, Frédéric Galactéros, Gilles Morin, Nadia Firah, Marc Ruivard, Claire Berger, Valérie Proulle, Camille Le Stradic, Pascal Cathébras, Laurence Bendelac, Jacques Delaunay, Julien Perrin, Claire Barro, Claire Bénéteau, Eric Deconinck, Khaldoun Ghazal, Loïc Garçon, Jean-Marc Durand
Publikováno v:
Haematologica
Haematologica, 2019, 104 (8), pp.1554-1564. ⟨10.3324/haematol.2018.205328⟩
Haematologica, Ferrata Storti Foundation, 2019, 104 (8), pp.1554-1564. ⟨10.3324/haematol.2018.205328⟩
Haematologica, 2019, 104 (8), pp.1554-1564. ⟨10.3324/haematol.2018.205328⟩
Haematologica, Ferrata Storti Foundation, 2019, 104 (8), pp.1554-1564. ⟨10.3324/haematol.2018.205328⟩
International audience; We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a KCNN4 mutation, five had the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e63b2513729feaf070b498757ed60e
https://hal.umontpellier.fr/hal-02929666/document
https://hal.umontpellier.fr/hal-02929666/document
Autor:
Fabienne Toutain, Capucine Picard, Sarah Law-Ping-Man, Frédéric Rieux-Laucat, Alain Dupuy, Henri Adamski, Aude Magerus-Chatinet, Solène Kammerer-Jacquet
Publikováno v:
Pediatric Dermatology
Pediatric Dermatology, Wiley, 2018, 35 (6), pp.e375-e377. ⟨10.1111/pde.13676⟩
Pediatric Dermatology, 2018, 35 (6), pp.e375-e377. ⟨10.1111/pde.13676⟩
Pediatric Dermatology, Wiley, 2018, 35 (6), pp.e375-e377. ⟨10.1111/pde.13676⟩
Pediatric Dermatology, 2018, 35 (6), pp.e375-e377. ⟨10.1111/pde.13676⟩
Transporter associated with antigen processing (TAP) is essential for the stabilization and surface expression of major histocompatibility complex class I molecules of all nucleated cells. TAP deficiency syndrome, also known as bare lymphocyte syndro
Autor:
Thierry Leblanc, Hana Manceau, Fanny Fouyssac, J.F. Guichard, Nadja Jäkel, Patrick Lutz, Jean-Pierre Vannier, Cyrielle Fouquet, Fabienne Toutain, Mohamed Touati, Christiane Vermylen, Yves Perel, Marie-Amelyne Le Rouzic, Karim Maloum, Caroline Kannengiesser
Publikováno v:
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2017, 66, pp.11-18. ⟨10.1016/j.bcmd.2017.07.003⟩
Blood Cells, Molecules and Diseases, Elsevier, 2017, 66, pp.11-18. ⟨10.1016/j.bcmd.2017.07.003⟩
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7055f283bc2dca6de4520ee81866810
https://hal.archives-ouvertes.fr/hal-02377918
https://hal.archives-ouvertes.fr/hal-02377918
Autor:
Laura Silvestri, Fabienne Toutain, Carole Beaumont, Bernard Grandchamp, Alessia Pagani, Clara Camaschella, Caroline Kannengiesser, Flavia Guillem, Antonella Nai, Muriel Silva, Claire Oudin
Publikováno v:
Blood. 113:5605-5608
Matriptase-2 is a transmembrane serine protease that negatively regulates hepcidin expression by cleaving membrane-bound hemojuvelin. Matriptase-2 has a complex ectodomain, including a C-terminal serine protease domain and its activation requires an
Autor:
Patrick Pladys, Bertrand Bruneau, Mariannick Le Gueut, François Le Gall, Catherine François-Chervet, Marion Pierre, Fabienne Toutain, Julie Beucher, Alain Dabadie, Renaud Bouvet
Publikováno v:
Forensic science international. 245
We report the case of a 2-month-old infant with a single apparently ecchymotic lesion on the shoulder that raised suspicions of abuse. The medicolegal examination concluded that the appearance of the lesion was only mildly suggestive of an ecchymosis