Bocciardi R - Search Results

1

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.

Cappato S, Traberg R, Gintautiene J, Zara F, Bocciardi R. Cappato S, et al. Among authors: bocciardi r. Mol Genet Genomic Med. 2021 Oct;9(10):e1774. doi: 10.1002/mgg3.1774. Epub 2021 Aug 4. Mol Genet Genomic Med. 2021. PMID: 34347384 Free PMC article.

2

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R. Bocciardi R, et al. Eur J Hum Genet. 2009 Mar;17(3):311-8. doi: 10.1038/ejhg.2008.178. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830232 Free PMC article.

3

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A. Ratbi I, et al. Among authors: bocciardi r. Clin Rheumatol. 2010 Jan;29(1):119-21. doi: 10.1007/s10067-009-1283-z. Epub 2009 Oct 1. Clin Rheumatol. 2010. PMID: 19795179

4

The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression.

Mura M, Cappato S, Giacopelli F, Ravazzolo R, Bocciardi R. Mura M, et al. Among authors: bocciardi r. PLoS One. 2012;7(12):e50958. doi: 10.1371/journal.pone.0050958. Epub 2012 Dec 5. PLoS One. 2012. PMID: 23227223 Free PMC article.

5

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Giacopelli F, Cappato S, Tonachini L, Mura M, Di Lascio S, Fornasari D, Ravazzolo R, Bocciardi R. Giacopelli F, et al. Among authors: bocciardi r. Orphanet J Rare Dis. 2013 Sep 18;8:145. doi: 10.1186/1750-1172-8-145. Orphanet J Rare Dis. 2013. PMID: 24047559 Free PMC article.

6

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: bocciardi r. 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.

7

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Bravenboer N, Micha D, Triffit JT, Bullock AN, Ravazollo R, Bocciardi R, di Rocco M, Netelenbos JC, Ten Dijke P, Sánchez-Duffhues G, Kaplan FS, Shore EM, Pignolo RJ, Seemann P, Ventura F, Beaujat G, Eekhoff EM, Pals G. Bravenboer N, et al. Among authors: bocciardi r. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.274. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604857 Free PMC article. No abstract available.

8

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Bertamino M, Severino M, Schiaffino MC, Garrè ML, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M. Bertamino M, et al. Among authors: bocciardi r. Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239063 Review.

9

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.

Saleh M, Commandeur J, Bocciardi R, Kinabo G, Hamel B. Saleh M, et al. Among authors: bocciardi r. Pan Afr Med J. 2015 Nov 24;22:299. doi: 10.11604/pamj.2015.22.299.8032. eCollection 2015. Pan Afr Med J. 2015. PMID: 26966495 Free PMC article.

10

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.

Cappato S, Tonachini L, Giacopelli F, Tirone M, Galietta LJ, Sormani M, Giovenzana A, Spinelli AE, Canciani B, Brunelli S, Ravazzolo R, Bocciardi R. Cappato S, et al. Among authors: bocciardi r. Dis Model Mech. 2016 Jun 1;9(6):685-96. doi: 10.1242/dmm.023929. Epub 2016 Apr 28. Dis Model Mech. 2016. PMID: 27125279 Free PMC article.

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