Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Valerie Porquet-Bordes"'
Autor:
Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch, Ralph Sakkers, Jean-Pierre Salles, Oliver Semler, Jony Sun, Michael To, Laura Tosi, Yangyang Yao, Eric Hiu Kwong Yeung, Lidiia Zhytnik, Maria Carola Zillikens, Marjolein Verhoef
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The
Externí odkaz:
https://doaj.org/article/e4473b5c08aa4163ac055f6a82da002b
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:
Valerie Porquet-Bordes, Marion Groussolles, Edouard Le Guillou, Charlotte Dubucs, Marion Aubert-Mucca, Eric Pasmant, Julie Vial, Jean-Pierre Salles, Thomas Edouard
Publikováno v:
Bone Reports
Bone Reports, Vol 15, Iss, Pp 101097-(2021)
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). Homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce6f24966fc5eeac715ab0750f7f52e
http://europepmc.org/articles/PMC8209172
http://europepmc.org/articles/PMC8209172
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
Autor:
Eugénie Koumakis, Valérie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Françoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valérie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot, Christian Roux, Catherine Cormier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Pregnancy and breastfeeding are associated with bone density loss. Fracture occurrence during pregnancy and post-partum, and its determinants, remain poorly known in Osteogenesis Imperfecta (OI). The aim of this study was to chara
Externí odkaz:
https://doaj.org/article/e19e2b5f8fc7424b83379ed399cbc707
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:
Michel Laroche, Guillaume Couture, Marie Faruch, Adeline Ruyssen‐Witrand, Valérie Porquet‐Bordes, Jean Pierre Salles, Yannick Degboe
Publikováno v:
JBMR Plus, Vol 5, Iss 4, Pp n/a-n/a (2021)
ABSTRACT Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between t
Externí odkaz:
https://doaj.org/article/2b8e77ffd98546fbac9f4f8adfeaeef8