Santoro C - Search Results

1

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

Santoro C, Apicella A, Casale F, La Manna A, Di Martino M, Di Pinto D, Indolfi C, Perrotta S. Santoro C, et al. BMC Cancer. 2016 Jun 13;16:365. doi: 10.1186/s12885-016-2402-2. BMC Cancer. 2016. PMID: 27291393 Free PMC article.

2

The endovanilloid/endocannabinoid system in human osteoclasts: possible involvement in bone formation and resorption.

Rossi F, Siniscalco D, Luongo L, De Petrocellis L, Bellini G, Petrosino S, Torella M, Santoro C, Nobili B, Perrotta S, Di Marzo V, Maione S. Rossi F, et al. Among authors: santoro c. Bone. 2009 Mar;44(3):476-84. doi: 10.1016/j.bone.2008.10.056. Epub 2008 Nov 14. Bone. 2009. PMID: 19059369

3

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.

4

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.

Perrotta S, Di Iorgi N, Ragione FD, Scianguetta S, Borriello A, Allegri AE, Ferraro M, Santoro C, Napoli F, Calcagno A, Giaccardi M, Cappa M, Salerno MC, Cozzolino D, Maghnie M. Perrotta S, et al. Among authors: santoro c. Eur J Endocrinol. 2015 Apr;172(4):461-72. doi: 10.1530/EJE-14-0942. Eur J Endocrinol. 2015. PMID: 25740874

5

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.

6

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

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

8

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

Santoro C, Giugliano T, Bifano D, D'Anna C, D'Onofrio V, Perrotta S. Santoro C, et al. Clin Case Rep. 2017 Aug 10;5(10):1557-1560. doi: 10.1002/ccr3.1065. eCollection 2017 Oct. Clin Case Rep. 2017. PMID: 29026543 Free PMC article.

9

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

D'Amico A, Mazio F, Ugga L, Cuocolo R, Cirillo M, Santoro C, Perrotta S, Melis D, Brunetti A. D'Amico A, et al. Among authors: santoro c. BMC Pediatr. 2018 Feb 28;18(1):91. doi: 10.1186/s12887-018-1067-1. BMC Pediatr. 2018. PMID: 29490631 Free PMC article.

10

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.

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