Santoro C - Search Results

1

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

Santoro C, Mirone G, Zanobio M, Ranucci G, D'Amico A, Cicala D, Iascone M, Bernardo P, Piccolo V, Ronchi A, Limongelli G, Carotenuto M, Nigro V, Cinalli G, Piluso G. Santoro C, et al. Int J Mol Sci. 2022 Aug 11;23(16):8952. doi: 10.3390/ijms23168952. Int J Mol Sci. 2022. PMID: 36012218 Free PMC article. Review.

2

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S. Santoro C, et al. BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44. BMC Med Genet. 2014. PMID: 24767283 Free PMC article.

3

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. 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.

4

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Santoro C, Di Rocco F, Kossorotoff M, Zerah M, Boddaert N, Calmon R, Vidaud D, Cirillo M, Cinalli G, Mirone G, Giugliano T, Piluso G, D'Amico A, Capra V, Pavanello M, Cama A, Nobili B, Lyonnet S, Perrotta S. Santoro C, et al. Am J Med Genet A. 2017 Jun;173(6):1521-1530. doi: 10.1002/ajmg.a.38212. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422438

5

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. Clin Genet. 2018 Jan;93(1):138-143. doi: 10.1111/cge.13047. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28456002

6

Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience.

Roth J, Ber R, Wisoff JH, Hidalgo ET, Limbrick DD, Berger DS, Thomale UW, Schulz M, Cinalli G, Santoro C, Constantini S. Roth J, et al. Among authors: santoro c. World Neurosurg. 2017 Nov;107:623-629. doi: 10.1016/j.wneu.2017.08.053. Epub 2017 Aug 24. World Neurosurg. 2017. PMID: 28842232

7

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Bernardo P, Nigro V, Piluso G. Giugliano T, et al. Among authors: santoro c. Am J Med Genet A. 2018 Mar;176(3):722-726. doi: 10.1002/ajmg.a.38589. Epub 2017 Dec 28. Am J Med Genet A. 2018. PMID: 29283210

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. 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. 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. 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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