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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P. Haupt J, et al. Among authors: landi a. Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852373 Free PMC article.
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Spielmann M, et al. Among authors: landi a. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022097 Free PMC article.
Liebenberg syndrome: first case of monovular twins.
Di Gennaro G, Gilardi R, Landi A, Ferrari P, Sartini S. Di Gennaro G, et al. Among authors: landi a. Plast Reconstr Surg. 2010 Jan;125(1):25e-27e. doi: 10.1097/PRS.0b013e3181c2a2d3. Plast Reconstr Surg. 2010. PMID: 20048589 No abstract available.
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.
Carli D, Garagnani L, Lando M, Fairplay T, Bernasconi S, Landi A, Percesepe A. Carli D, et al. Among authors: landi a. J Pediatr. 2014 Mar;164(3):458-62.e1-2. doi: 10.1016/j.jpeds.2013.09.033. Epub 2013 Nov 7. J Pediatr. 2014. PMID: 24210691
Hand and Upper Limb Malformations in Italy: A Multicentric Study.
Senes FM, Calevo MG, Adani R, Baldrighi C, Bassetto F, Corain M, Landi A, Lando M, Monticelli A, Novelli C, Pajardi G, Rosanda E, Rossello MI, Santecchia L, Zoccolan A, Catena N. Senes FM, et al. Among authors: landi a. J Hand Surg Asian Pac Vol. 2021 Sep;26(3):345-350. doi: 10.1142/S2424835521500302. J Hand Surg Asian Pac Vol. 2021. PMID: 34380395
410 results