Santoro C - Search Results

1

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Grandone A, et al. Among authors: santoro c. Clin Genet. 2016 Nov;90(5):445-450. doi: 10.1111/cge.12771. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26940245

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

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.

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

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.

9

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.

10

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.

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