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Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillén-Navarro E, Högler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, Sigaudy S, Popkov D, Sabir I, Noval S, Sessa M, Irving M. Alanay Y, et al. Among authors: baujat g. Orphanet J Rare Dis. 2023 Jun 26;18(1):166. doi: 10.1186/s13023-023-02755-w. Orphanet J Rare Dis. 2023. PMID: 37365619 Free PMC article.
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Baujat G, et al. J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. J Med Genet. 2013. PMID: 23339108
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V. Huber C, et al. Among authors: baujat g. Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183449 Free PMC article.
174 results