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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: gonfiantini mv. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
The line between COVID-19 pandemic and rare bone diseases.
Sangiorgi L, Brizola E; COVID-19 Helpline for Rare Bone Diseases Group. Sangiorgi L, et al. Ir J Med Sci. 2021 Aug;190(3):1243-1244. doi: 10.1007/s11845-020-02400-6. Epub 2020 Nov 2. Ir J Med Sci. 2021. PMID: 33140293 Free PMC article. No abstract available.
An unusual case of anisocoria by vegetal intoxication: a case report.
Macchiaiolo M, Vignati E, Gonfiantini MV, Grandin A, Romano MT, Salata M, Valentini D, Villani A. Macchiaiolo M, et al. Among authors: gonfiantini mv. Ital J Pediatr. 2010 Jul 20;36:50. doi: 10.1186/1824-7288-36-50. Ital J Pediatr. 2010. PMID: 20646270 Free PMC article.
Persistent neck pain in a girl: Klippel-Feil syndrome.
Buonuomo PS, Macchiaiolo M, Colafati GS, Rana I, Tomà P, Gonfiantini MV, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. Arch Dis Child. 2014 Mar;99(3):290-1. doi: 10.1136/archdischild-2013-305203. Epub 2013 Nov 28. Arch Dis Child. 2014. PMID: 24288136 No abstract available.
Corneal arcus as first sign of familial hypercholesterolemia.
Macchiaiolo M, Buonuomo PS, Valente P, Rana I, Lepri FR, Gonfiantini MV, Bartuli A. Macchiaiolo M, et al. Among authors: gonfiantini mv. J Pediatr. 2014 Mar;164(3):670. doi: 10.1016/j.jpeds.2013.10.045. Epub 2013 Dec 4. J Pediatr. 2014. PMID: 24314439 No abstract available.
Erythropoietic protoporphyria in a boy.
Buonuomo PS, Macchiaiolo M, Gonfiantini MV, Biolcati G, Pitisci A, Villani A, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. Arch Dis Child. 2015 Jan;100(1):7. doi: 10.1136/archdischild-2014-307082. Epub 2014 Nov 12. Arch Dis Child. 2015. PMID: 25392202 No abstract available.
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Gonfiantini MV, Armando M, Pucciarini ML, Macchiaiolo M, Buonuomo PS, Diociaiuti A, Lepri FR, Sirleto P, Vicari S, Bartuli A. Gonfiantini MV, et al. Am J Med Genet A. 2015 Jul;167(7):1637-43. doi: 10.1002/ajmg.a.37041. Epub 2015 Mar 28. Am J Med Genet A. 2015. PMID: 25820919
Eruptive Xanthomas in Lipoprotein Lipase Deficiency.
Buonuomo PS, Malamisura M, Macchiaiolo M, Rana I, Gonfiantini MV, Mastrogiorgio G, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. J Pediatr. 2017 Aug;187:330. doi: 10.1016/j.jpeds.2017.04.032. Epub 2017 May 18. J Pediatr. 2017. PMID: 28529016 No abstract available.
51 results