Bertamino M - Search Results

1

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Severino M, Bertamino M, Tortora D, Morana G, Uccella S, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M. Severino M, et al. Among authors: bertamino m. J Med Genet. 2016 Dec;53(12):859-864. doi: 10.1136/jmedgenet-2016-104076. Epub 2016 Aug 26. J Med Genet. 2016. PMID: 27565519

2

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. 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.

3

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

Minoia F, Bertamino M, Picco P, Severino M, Rossi A, Fiorillo C, Minetti C, Nesti C, Santorelli FM, Di Rocco M. Minoia F, et al. Among authors: bertamino m. JIMD Rep. 2017;37:37-43. doi: 10.1007/8904_2017_9. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247337 Free PMC article.

4

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

Pagani A, Colucci S, Bocciardi R, Bertamino M, Dufour C, Ravazzolo R, Silvestri L, Camaschella C. Pagani A, et al. Among authors: bertamino m. Blood. 2017 Jun 22;129(25):3392-3395. doi: 10.1182/blood-2017-03-773481. Epub 2017 May 5. Blood. 2017. PMID: 28476747 Free PMC article. No abstract available.

5

International physician survey on management of FOP: a modified Delphi study.

Di Rocco M, Baujat G, Bertamino M, Brown M, De Cunto CL, Delai PLR, Eekhoff EMW, Haga N, Hsiao E, Keen R, Morhart R, Pignolo RJ, Kaplan FS. Di Rocco M, et al. Among authors: bertamino m. Orphanet J Rare Dis. 2017 Jun 12;12(1):110. doi: 10.1186/s13023-017-0659-4. Orphanet J Rare Dis. 2017. PMID: 28606101 Free PMC article.

6

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I. Di Rocco M, et al. Among authors: bertamino m. Clin Genet. 2018 Mar;93(3):671-674. doi: 10.1111/cge.13134. Epub 2018 Jan 12. Clin Genet. 2018. PMID: 28892125

7

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Di Rocco M, Pisciotta L, Madeo A, Bertamino M, Bertolini S. Di Rocco M, et al. Among authors: bertamino m. Orphanet J Rare Dis. 2018 Jan 27;13(1):24. doi: 10.1186/s13023-018-0768-8. Orphanet J Rare Dis. 2018. PMID: 29374495 Free PMC article.

8

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427

9

Bivalirudin anticoagulation to overcome heparin resistance in a neonate with cerebral sinovenus thrombosis.

Bertamino M, Severino M, Parodi A, Andreato C, Malova M, Svahn J, Tortora D, Moretti P, Molinari AC, Ramenghi LA. Bertamino M, et al. Blood Coagul Fibrinolysis. 2020 Jan;31(1):97-100. doi: 10.1097/MBC.0000000000000879. Blood Coagul Fibrinolysis. 2020. PMID: 31833869

10

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Prato G, De Grandis E, Mancardi MM, Cordani R, Giacomini T, Pisciotta L, Uccella S, Severino M, Tortora D, Pavanello M, Bertamino M, Verrina E, Caridi G, Di Rocco M, Nobili L. Prato G, et al. Among authors: bertamino m. Brain Dev. 2020 May;42(5):408-413. doi: 10.1016/j.braindev.2020.01.008. Epub 2020 Feb 27. Brain Dev. 2020. PMID: 32115305

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