Ellis-Van Creveld syndrome

por Baujat, Geneviève, Le Merrer, Martine
Publicado 2007

Sotos syndrome

por Baujat, Geneviève, Cormier-Daire, Valérie
Publicado 2007

Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia

por Vivanti, Alexandre J., Cordier, Anne-Gael, Baujat, Geneviève, Benachi, Alexandra
Publicado 2016

Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti‐Interleukin‐1 Treatments

por Dauchez, Astrid, Souffir, Camille, Quartier, Pierre, Baujat, Geneviève, Briot, Karine, Roux, Christian
Publicado 2019

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

por Pignolo, Robert J., Hsiao, Edward C., Baujat, Genevieve, Lapidus, David, Sherman, Adam, Kaplan, Frederick S.
Publicado 2021

Parents’ Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia

por NiMhurchadha, Sinead, Butler, Karen, Argent, Rob, Palm, Katja, Baujat, Genevieve, Cormier-Daire, Valerie, Mohnike, Klaus
Publicado 2023

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia

por Huet, Thomas, Cohen-Solal, Martine, Laredo, Jean-Denis, Collet, Corinne, Baujat, Geneviève, Cormier-Daire, Valérie, Yelnik, Alain, Orcel, Philippe, Beaudreuil, Johann
Publicado 2020

Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo‐Controlled, Double‐Blind Phase 2 Trial

por Pignolo, Robert J., Baujat, Geneviève, Hsiao, Edward C., Keen, Richard, Wilson, Amy, Packman, Jeff, Strahs, Andrew L., Grogan, Donna R., Kaplan, Frederick S.
Publicado 2022

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

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

Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

por Bhatia, Shipra, Gordon, Christopher T., Foster, Robert G., Melin, Lucie, Abadie, Véronique, Baujat, Geneviève, Vazquez, Marie-Paule, Amiel, Jeanne, Lyonnet, Stanislas, van Heyningen, Veronica, Kleinjan, Dirk A.
Publicado 2015

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

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

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

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

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

por Drovandi, Stefania, Lugani, Francesca, Boyer, Olivia, La Porta, Edoardo, Giordano, Paolo, Hummel, Aurélie, Knebelmann, Bertrand, Cornet, Joséphine, Baujat, Genevieve, Lipska-Ziętkiewicz, Beata S., Ghiggeri, Gian Marco, Caridi, Gianluca, Angeletti, Andrea
Publicado 2022

SUN-344 Patients with Fibrodysplasia Ossificans Progressiva Have an Increased Prevalence of Cardiac Conduction Abnormalities

por Kou, Samuel, DeCunto, Carmen, Baujat, Geneviève, Wentworth, Kelly Lee, Grogan, Donna, Brown, Matthew A, Rocco, Maja D, Keen, Richard, Mukaddam, Mona Al, Kaplan, Frederick S, Pignolo, Robert J, Hsiao, Edward Chiaming
Publicado 2020

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice

por Loisay, Léa, Komla-Ebri, Davide, Morice, Anne, Heuzé, Yann, Viaut, Camille, de La Seiglière, Amélie, Kaci, Nabil, Chan, Danny, Lamouroux, Audrey, Baujat, Geneviève, Bassett, J.H. Duncan, Williams, Graham R., Legeai-Mallet, Laurence
Publicado 2023

Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva

por Pignolo, Robert J., Al Mukaddam, Mona, Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Hsiao, Edward C., Keen, Richard, Le Quan Sang, Kim-Hanh, Grogan, Donna R., Marino, Rose, Strahs, Andrew R., Kaplan, Frederick S.
Publicado 2023

International physician survey on management of FOP: a modified Delphi study

por Di Rocco, Maja, Baujat, Genevieve, Bertamino, Marta, Brown, Matthew, De Cunto, Carmen L., Delai, Patricia L. R., Eekhoff, Elisabeth M. W., Haga, Nobuhiko, Hsiao, Edward, Keen, Richard, Morhart, Rolf, Pignolo, Robert J., Kaplan, Frederick S.
Publicado 2017

OR29-05 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 12-Month Outcomes

por Mukaddam, Mona Al, Pignolo, Robert J, Baujat, Geneviève, Brown, Matthew A, De Cunto, Carmen, Rocco, Maja Di, Hsiao, Edward C, Keen, Richard W, Sang, Kim-Hanh Le Quan, Strahs, Andrew, Marino, Rose, Kaplan, Frederick S
Publicado 2020

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

por Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank
Publicado 2021

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

por Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, DiRocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Grogan, Donna R., Kaplan, Frederick S.
Publicado 2019