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Page 1
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: baujat g. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).
Pignolo RJ, Hsiao EC, Al Mukaddam M, Baujat G, Berglund SK, Brown MA, Cheung AM, De Cunto C, Delai P, Haga N, Kannu P, Keen R, Le Quan Sang KH, Mancilla EE, Marino R, Strahs A, Kaplan FS. Pignolo RJ, et al. Among authors: baujat g. J Bone Miner Res. 2023 Mar;38(3):381-394. doi: 10.1002/jbmr.4762. Epub 2023 Jan 25. J Bone Miner Res. 2023. PMID: 36583535 Free article.
Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility.
Lindborg CM, Al Mukaddam M, Baujat G, Cho TJ, De Cunto CL, Delai PLR, Eekhoff EMW, Haga N, Hsiao EC, Morhart R, de Ruiter R, Scott C, Seemann P, Szczepanek M, Tabarkiewicz J, Pignolo RJ, Kaplan FS. Lindborg CM, et al. Among authors: baujat g. Clin Orthop Relat Res. 2023 Dec 1;481(12):2447-2458. doi: 10.1097/CORR.0000000000002672. Epub 2023 May 8. Clin Orthop Relat Res. 2023. PMID: 37156007
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V. Dubail J, et al. Among authors: baujat g. J Bone Miner Res. 2024 Apr 19;39(3):287-297. doi: 10.1093/jbmr/zjad020. J Bone Miner Res. 2024. PMID: 38477767
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: baujat g. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: baujat g. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. Irving M, et al. Among authors: baujat g. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. Orphanet J Rare Dis. 2023. PMID: 37501185 Free PMC article.
174 results