Zobrazeno 1 - 10
of 13
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:
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:
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
Autor:
Marie Hervieu-Bègue, Véronique Darmency-Stamboul, Mondher Souchane, Frédéric Huet, Apolline Kazemi, Maurice Giroud, Guy-Victor Osseby, Agnès Jacquin, Nassima Nezzal, Yannick Béjot
Publikováno v:
La Presse Médicale. 41:518-524
Key points Stroke in children is an important public health problem because, even if it is 10 folds less frequent than in adults, it may have severe consequences, related to the lack of dedicated stroke network in childhood. Therefore, it is importan
Autor:
Yannick Béjot, C. Chantegret, Mondher Chouchane, M. Giroud, Thibault Moreau, Frédéric Huet, J.-B. Gouyon, Guy-Victor Osseby
Publikováno v:
Revue Neurologique. 165:889-900
The clinical presentation, risk factors, causes, vital or functional prognosis, and acute management options for stroke occurring in neonates and children are specific, differing from those observed in young adults. Compared with the adult population
Autor:
Frédéric Huet, C. Thauvin-Robinet, Jean-Raymond Teyssier, J. Guy, Laurence Faivre, D. Assous, Nathalie Marle, Patrick Callier, Alice Masurel-Paulet, Francine Mugneret, P. D'Athis, A.L. Mosca
Publikováno v:
American Journal of Medical Genetics Part A. :1323-1326
Autor:
F.-A. Allaert, Pierre Pothier, Frédéric Huet, E. Caulin, C. Cremillieux, M. Chouchane, M. Aubert
Publikováno v:
Archives de Pédiatrie. 15:362-374
Summary Primary objective To estimate the incidence of acute gastroenteritis (AGE) and rotavirus acute gastroenteritis (RVAGE) in children less than 5 years of age seeking medical care in primary care, emergency department, and hospital settings. Sec
Autor:
Mélanie Trichard, Nathalie Largeron, Houda Miadi-Fargier, Guillermo Jasso-Mosqueda, Frédéric Huet
Publikováno v:
Vaccine. 25:6348-6358
This study aimed at estimating the paediatric RotaVirus GastroEnteritis (RVGE) burden in children aged up to 5 years, and at evaluating health and economic benefits of a universal infant vaccination with a pentavalent rotavirus vaccine, in France. A