Perrotta S - Search Results

1

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.

Peduto C, Zanobio M, Nigro V, Perrotta S, Piluso G, Santoro C. Peduto C, et al. Among authors: perrotta s. Cancers (Basel). 2023 Feb 14;15(4):1217. doi: 10.3390/cancers15041217. Cancers (Basel). 2023. PMID: 36831560 Free PMC article. Review.

2

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Santoro C, Maietta A, Giugliano T, Melis D, Perrotta S, Nigro V, Piluso G. Santoro C, et al. Among authors: perrotta s. Eur J Hum Genet. 2015 Nov;23(11):1460-1. doi: 10.1038/ejhg.2015.93. Epub 2015 May 13. Eur J Hum Genet. 2015. PMID: 25966637 Free PMC article. No abstract available.

3

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: perrotta s. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.

4

Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1.

Santoro C, Picariello S, Palladino F, Spennato P, Melis D, Roth J, Cirillo M, Quaglietta L, D'Amico A, Gaudino G, Meucci MC, Ferrara U, Constantini S, Perrotta S, Cinalli G. Santoro C, et al. Among authors: perrotta s. Cancers (Basel). 2020 May 31;12(6):1426. doi: 10.3390/cancers12061426. Cancers (Basel). 2020. PMID: 32486389 Free PMC article.

5

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

Santoro C, Riccio S, Palladino F, Aliberti F, Carotenuto M, Zanobio M, Peduto C, Nigro V, Perrotta S, Piluso G. Santoro C, et al. Among authors: perrotta s. Eur J Med Genet. 2021 May;64(5):104190. doi: 10.1016/j.ejmg.2021.104190. Epub 2021 Mar 17. Eur J Med Genet. 2021. PMID: 33722742

6

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

Santoro C, Gaudino G, Torella A, Piluso G, Perrotta S, Miraglia Del Giudice E; Telethon Undiagnosed Diseases Program; Nigro V, Grandone A. Santoro C, et al. Among authors: perrotta s. Eur J Med Genet. 2021 Dec;64(12):104358. doi: 10.1016/j.ejmg.2021.104358. Epub 2021 Oct 5. Eur J Med Genet. 2021. PMID: 34624555 Review.

7

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Santoro C, Giugliano T, Melone MAB, Cirillo M, Schettino C, Bernardo P, Cirillo G, Perrotta S, Piluso G. Santoro C, et al. Among authors: perrotta s. Clin Genet. 2018 Jan;93(1):138-143. doi: 10.1111/cge.13047. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28456002

8

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Santoro C, Bernardo P, Coppola A, Pugliese U, Cirillo M, Giugliano T, Piluso G, Cinalli G, Striano S, Bravaccio C, Perrotta S. Santoro C, et al. Among authors: perrotta s. Ital J Pediatr. 2018 Mar 22;44(1):41. doi: 10.1186/s13052-018-0477-x. Ital J Pediatr. 2018. PMID: 29566708 Free PMC article.

9

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Santoro C, Giugliano T, Kraemer M, Torella A, Schwitalla JC, Cirillo M, Melis D, Berlit P, Nigro V, Perrotta S, Piluso G. Santoro C, et al. Among authors: perrotta s. PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018. PLoS One. 2018. PMID: 30001348 Free PMC article.

10

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Santoro C, Palladino F, Bernardo P, Cinalli G, Mirone G, Giugliano T, Piluso G, Perrotta S. Santoro C, et al. Among authors: perrotta s. Neurol Sci. 2019 Jul;40(7):1475-1476. doi: 10.1007/s10072-019-3728-8. Epub 2019 Jan 21. Neurol Sci. 2019. PMID: 30666475 No abstract available.

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