Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Frédéric Huet"'
Autor:
Perrine Dusser, Alexandre Belot, Fanny Bajolle, Charlotte Kevorkian-Verguet, Ulrich Meinzer, Frédéric Huet, Soizic Tiriau, Isabelle Kone-paut
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionMultisystemic inflammatory syndrome in children (MIS-C) is a therapeutic emergency and can lead to myocardial dysfunction (17%–75%) and heart failure (52%–53%). Intravenous immunoglobulins (IVIG) and corticosteroids (CST) have been va
Externí odkaz:
https://doaj.org/article/f536b5c73b9249d99395b30a22bd30c8
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Autor:
Alain Martinot, Anne Sophie Romain, Philippe Bensaid, Frédéric Huet, Corinne Levy, Nicoletta Magdalena Ursulescu, Muriel Lalande, Véronique Hentgen, Romain Basmaci, Stéphane Béchet, Edeline Coinde, Cecile Bost bru, Cecile Fournial, Robert M. Cohen, H. Haas, Charlotte Pons, Julie Toubiana, Emmanuelle Dessioux, Jean Gashignard, François Vié le Sage, Josette Raymond
Aim To describe the trends of RT-PCR positive SARS-CoV-2 rates in children and adults according to the time of COVID-19 epidemic. Methods In this prospective multicenter study involving 45 pediatric units, we collected the results of nasopharyngeal s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0cbd5e418f29b56eec48c44c4c45e2
https://doi.org/10.1101/2020.05.18.20098863
https://doi.org/10.1101/2020.05.18.20098863
Autor:
H. Haas, Nicoleta Ursulescu, Corinne Levy, Stéphane Béchet, François Vié le Sage, Philippe Bensaid, Cecile Bost bru, Cecile Fournial, Anne Sophie Romain, Muriel Lalande, Josette Raymond, Robert M. Cohen, Emmanuelle Dessioux, Véronique Hentgen, Jean Gashignard, Edeline Coinde, Alain Martinot, Charlotte Pons, Julie Toubiana, Romain Basmaci, Frédéric Huet
Publikováno v:
Pediatric Infectious Disease Journal
Pediatric Infectious Disease Journal, 2020, Online ahead of print. ⟨10.1097/INF.0000000000002861⟩
Pediatric Infectious Disease Journal, Lippincott, Williams & Wilkins, 2020, Online ahead of print. ⟨10.1097/INF.0000000000002861⟩
Pediatric Infectious Disease Journal, 2020, Online ahead of print. ⟨10.1097/INF.0000000000002861⟩
Pediatric Infectious Disease Journal, Lippincott, Williams & Wilkins, 2020, Online ahead of print. ⟨10.1097/INF.0000000000002861⟩
International audience; From March 2, 2020, to April 26, 2020, 52,588 reverse transcription polymerase chain reaction (RT-PCR) tests for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were performed in France, 6490 in children and 46,09
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0209b5930b4a3e349a4aceedbb2618
https://www.hal.inserm.fr/inserm-02935786
https://www.hal.inserm.fr/inserm-02935786
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
David A. Dyment, Judith St-Onge, A. Albanese, Sylvie Manouvrier, S. Garcia, Jean-Baptiste Rivière, Corinne Vigouroux, Delphine Héron, Sahar Mansour, Cynthia J. Curry, Paul Kuentz, D. Delesalle, Leah Slattery, B.L. Luyer, Laurence Faivre, C. Thauvin-Robinet, T. Claudi, Sylvie Odent, Grace Yoon, Frédéric Huet, Jonathan A. Bernstein, S. Mo, Susan M. White, M.-L. Nunes, C. Fagour, Pierre Bitoun, Magali Avila, Sara L. Sawyer, A.M. Innes, Ute Moog, A.A. Lopez, Pål R. Njølstad, Jeanne Amiel, M. Laville, Y. Reznik, Olivier Lascols, Dominique Martin, Martine Le Merrer, Julien Thevenon, Brian Hy Chung, Michèle Mathieu-Dramard, Jørn V. Sagen, Rebekah Jobling, Christine Binquet, Rainer König
Publikováno v:
Clinical Genetics. 89:501-506
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have
Autor:
Yannick, Béjot, Benoit, Delpont, Christelle, Blanc, Véronique, Darmency, Frédéric, Huet, Maurice, Giroud
Publikováno v:
Soins. Pediatrie, puericulture. 38(295)
Incidence of perinatal arterial stroke (ischemic stroke, intracerebral hemorrhage and subarachnoid hemorrhage) occurring between 20 weeks of gestation and postnatal day 28 ranges between 20 and 65 cases per 100,000 living births. In children aged 29
Autor:
Jérôme Kaplon, Florence Morfin-Sherpa, D. Gendrel, Christopher Payan, A. Schnuriger, Anne Decoster, Sylvie Pillet, J.-F. Meritet, Aurélie Guigon, François Dubos, Bruno Pozzetto, M.-C. Legrand-Guillien, Céline Fremy, C. Bouquignaud, Y. Gillet, M. Rodiere, Didier Hober, Y. Mekki, Ronald Colimon, Pierre Lebon, O. Mory, A. Beby-Defaux, Sophie Alain, Stéphane Bonacorsi, Bruno Lina, Gisèle Lagathu, J.-L. Stephan, M. Chouchane, Pierre Pothier, A. Garbarg-Chenon, L. Mendes-Martins, R. Maudinas, Jérôme Guinard, Frédéric Huet, Patricia Mariani, J. Languepin, A. Minoui-Tran, A. de Rougemont, Mouna Lazrek, Véronique Avettand-Fenoel, Vincent Foulongne, Gérard Agius, Astrid Vabret, Denis Oriot, Serge Aho, Mathie Lorrot
Publikováno v:
Clinical Microbiology and Infection
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
International audience; Group A rotavirus (RVA) is the leading cause of acute gastroenteritis in young children worldwide. A prospective surveillance network has been set up to investigate the virological and clinical features of RVA infections and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66169ec9284c60c0e13c0753254522
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02290969
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02290969
Autor:
Patrick Collignon, L. Joly, Bruno Leheup, Elodie Gautier, T. Rousseau, Christine Binquet, M.-A. Delrue, Jean-Eric Wolf, Yves Dulac, Frédéric Huet, C. Cassini, G. Mace, Nadine Hanna, Catherine Boileau, Christel Thauvin-Robinet, Laurent Gouya, Sylvie Odent, Julien Thevenon, Paul Sagot, Guillaume Jondeau, Laurence Faivre, H. Plauchu, V. Cusin, Fanny Coron
Publikováno v:
Prenatal Diagnosis. 32:1318-1323
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult