Giugliano T - Search Results

1

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: giugliano t. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.

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: giugliano t. 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. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.

4

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: giugliano t. 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.

5

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: giugliano t. PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018. PLoS One. 2018. PMID: 30001348 Free PMC article.

6

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.

Santoro C, Giugliano T, Bernardo P, Palladino F, Torella A, Del Vecchio Blanco F, Onore ME, Carotenuto M, Nigro V, Piluso G. Santoro C, et al. Among authors: giugliano t. BMC Neurol. 2020 Sep 1;20(1):327. doi: 10.1186/s12883-020-01911-0. BMC Neurol. 2020. PMID: 32873259 Free PMC article.

7

Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome.

Gicchino MF, Piluso G, Giugliano T, Cirillo M, Olivieri AN, Santoro C. Gicchino MF, et al. Among authors: giugliano t. Indian Pediatr. 2021 Dec 15;58(12):1187-1188. Indian Pediatr. 2021. PMID: 34939585 Free article. No abstract available.

8

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

9

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. Among authors: giugliano t. 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

10

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. 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

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