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Page 1
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
Di Rocco F, Biosse Duplan M, Heuzé Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L. Di Rocco F, et al. Hum Mol Genet. 2014 Jun 1;23(11):2914-25. doi: 10.1093/hmg/ddu004. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419316
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.
Biosse Duplan M, Komla-Ebri D, Heuzé Y, Estibals V, Gaudas E, Kaci N, Benoist-Lasselin C, Zerah M, Kramer I, Kneissel M, Porta DG, Di Rocco F, Legeai-Mallet L. Biosse Duplan M, et al. Among authors: di rocco f. Hum Mol Genet. 2016 Jul 15;25(14):2997-3010. doi: 10.1093/hmg/ddw153. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260401 Free PMC article.
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.
Komla-Ebri D, Dambroise E, Kramer I, Benoist-Lasselin C, Kaci N, Le Gall C, Martin L, Busca P, Barbault F, Graus-Porta D, Munnich A, Kneissel M, Di Rocco F, Biosse-Duplan M, Legeai-Mallet L. Komla-Ebri D, et al. Among authors: di rocco f. J Clin Invest. 2016 May 2;126(5):1871-84. doi: 10.1172/JCI83926. Epub 2016 Apr 11. J Clin Invest. 2016. PMID: 27064282 Free PMC article.
Crouzon syndrome with acanthosis nigricans: a case-based update.
Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. Di Rocco F, et al. Childs Nerv Syst. 2011 Mar;27(3):349-54. doi: 10.1007/s00381-010-1347-z. Epub 2010 Dec 7. Childs Nerv Syst. 2011. PMID: 21136065
Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.
Heuzé Y, Martínez-Abadías N, Stella JM, Arnaud E, Collet C, García Fructuoso G, Alamar M, Lo LJ, Boyadjiev SA, Di Rocco F, Richtsmeier JT. Heuzé Y, et al. Among authors: di rocco f. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):250-9. doi: 10.1002/bdra.23228. Epub 2014 Feb 27. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24578066 Free PMC article. Clinical Trial.
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome.
Coll G, Sakka L, Botella C, Pham-Dang N, Collet C, Zerah M, Arnaud E, Di Rocco F. Coll G, et al. Among authors: di rocco f. World Neurosurg. 2018 Jan;109:e460-e467. doi: 10.1016/j.wneu.2017.09.208. Epub 2017 Oct 10. World Neurosurg. 2018. PMID: 29024761
Craniovertebral junction anomalies in achondroplastic children.
Reina V, Baujat G, Fauroux B, Couloigner V, Boulanger E, Sainte-Rose C, Maroteaux P, Merrer ML, Cormier-Daire V, Legai-Mallet L, Zerah M, Di Rocco F. Reina V, et al. Among authors: di rocco f. Adv Tech Stand Neurosurg. 2014;40:295-312. doi: 10.1007/978-3-319-01065-6_10. Adv Tech Stand Neurosurg. 2014. PMID: 24265051
260 results