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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E. Wehrle A, et al. Among authors: fano v. JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701. JCI Insight. 2019. PMID: 30728324 Free PMC article.
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafé L, Dionisi-Vici C, Superti-Furga A. Vissers LE, et al. Among authors: fano v. Am J Med Genet A. 2011 Nov;155A(11):2609-16. doi: 10.1002/ajmg.a.34325. Am J Med Genet A. 2011. PMID: 22025298
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: fano v. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
[Tarsal-carpal coalition syndrome: a familial case].
Caino S, Dello Ruso B, Fano V, Obregón MG. Caino S, et al. Among authors: fano v. An Pediatr (Barc). 2012 Jun;76(6):355-9. doi: 10.1016/j.anpedi.2011.12.004. Epub 2012 Feb 9. An Pediatr (Barc). 2012. PMID: 22326510 Free article. Spanish.
[Osteogenesis imperfecta: quality of life in children].
Fano V, del Pino M, Rodríguez Celin M, Buceta S, Obregón MG. Fano V, et al. Arch Argent Pediatr. 2013 Jul-Aug;111(4):328-31. doi: 10.5546/aap.2013.328. Arch Argent Pediatr. 2013. PMID: 23912291 Free article. Spanish.
115 results