Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis

by Johanne Dubail, Valérie Cormier-Daire, Valérie Cormier-Daire
Published 2021-06-01

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia

by Alessandra Guasto, Valérie Cormier-Daire
Published 2021-04-01

New perspectives on the treatment of skeletal dysplasia

by Pauline Marzin, Valérie Cormier-Daire
Published 2020-03-01

Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker

by Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel
Published 2021-10-01

Determinants of dental care use in patients with rare diseases: a qualitative exploration

by Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon
Published 2023-06-01

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

by Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon
Published 2022-08-01

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders

by Guillaume Velasco, Damien Ulveling, Sophie Rondeau, Pauline Marzin, Motoko Unoki, Valérie Cormier-Daire, Claire Francastel
Published 2021-04-01

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

by David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant
Published 2020-01-01

Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia

by Jonathan Bordat, Felipe Suarez, Valérie Cormier-Daire, Regis Peffault de Latour, Jean Soulier, Veronique Meignin, Mathilde Doyard, Lise Larcher, Stephane Vanderbecken, Flore Sicre de Fontbrune
Published 2024-03-01

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

by Shuaa Basalom, Mélissa Fiscaletti, Valancy Miranda, Céline Huber, Guillaume Couture, Régen Drouin, Élise Monceau, Sandrine Wavrant, Johanne Dubé, Outi Mäkitie, Valérie Cormier-Daire, Philippe M. Campeau
Published 2021-12-01

Natural history of Myhre syndrome

by David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire
Published 2022-07-01

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

by Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire
Published 2017-06-01

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
Published 2014-05-01

P194: Persistence of growth promoting effects in children with achondroplasia over seven years: Update from phase II extension study with vosoritide*

by Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Valérie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Alice Huntsman-Labed, Elena Fisheleva, Ian Sabir, Jonathan Day, John Phillips, Ravi Savarirayan
Published 2023-01-01

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

by Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari
Published 2023-04-01

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
Published 2024-05-01

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide...

by Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall
Published 2022-06-01

P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*

by Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Carlos Prada, Valerie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Sajda Ghani, Elena Fisheleva, Andrea Low, Jonathan Day, John Phillips, III, Ravi Savarirayan
Published 2024-01-01

The first European consensus on principles of management for achondroplasia

by Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Published 2021-07-01

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike
Published 2022-07-01