Zobrazeno 1 - 10
of 148
pro vyhledávání: '"Thomas, Edouard"'
Autor:
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associate
Externí odkaz:
https://doaj.org/article/3fdcf20d63e3405d901d1338b04c6ed7
Autor:
Alice Broutin, Jean-Pierre Salles, Valérie Porquet-Bordes, Thomas Edouard, Frédéric Vaysse, Emmanuelle Noirrit-Esclassan
Publikováno v:
Children, Vol 11, Iss 8, p 900 (2024)
Background/Objectives: Osteogenesis imperfecta (OI) is a rare genetic disease that is responsible for bone fragility, but also for dental malocclusions and dentinogenesis imperfecta (DI). The aim of this study was to assess whether the severity of de
Externí odkaz:
https://doaj.org/article/772566aa0f7048edbae2935e08cc5f8e
Publikováno v:
In Innovative Food Science and Emerging Technologies December 2022 82
Autor:
Alexander A L Jorge, Thomas Edouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romano, Martin Zenker, Reiko Horikawa
Publikováno v:
Endocrine Connections, Vol 11, Iss 4, Pp 1-12 (2022)
Introduction: Mutations in PTPN11 are associated with Noonan syndrome (NS). Although the effectiveness of growth hormone therapy (GHT) in treating sh ort stature due to NS has been previously demonstrated, the effect of PTPN11 mutation status on the
Externí odkaz:
https://doaj.org/article/77e1806787c242b582f2ea61a573fec9
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
Externí odkaz:
https://doaj.org/article/c84936450e6442a983a0a40c7ba76d74
Autor:
Thomas, Edouard
Les besoins essentiels de produire « plus », « mieux » et « moins cher » s’inscrivent aujourd’hui dans une crise financière qui conduit les entreprises industrielles à faire face à des enjeux économiques liés aux impératifs de gains d
Externí odkaz:
http://www.theses.fr/2009NAN10067/document
Thèse de doctorat : Automatique : Nancy 1 : 2009.
Titre provenant de l'écran-titre.
Titre provenant de l'écran-titre.
Autor:
Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard
Publikováno v:
Bone Reports, Vol 16, Iss , Pp 101176- (2022)
Aim: To describe the presenting features, bone characteristics and molecular genetics in a large monocentric cohort of children and young adults with idiopathic primary osteoporosis. Methods: Sixty-six patients (19 children, 47 adults; 28 males, 38 f
Externí odkaz:
https://doaj.org/article/da53931ce1f04fc39360489f39780b7d
Autor:
Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101097- (2021)
Background: Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved in a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) to neonatal severe hyperparathyroidism (NSHPT). Hom
Externí odkaz:
https://doaj.org/article/8bcbd8bca1284190840a9f5903291bb1
Autor:
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Externí odkaz:
https://doaj.org/article/7dfbe9dc055d409dac473c9c0a3607fc