| The endovanilloid/endocannabinoid system in human osteoclasts: possible involvement in bone formation and resorption F Rossi, D Siniscalco, L Luongo, L De Petrocellis, G Bellini, S Petrosino, ... Bone 44 (3), 476-484, 2009 | 163 | 2009 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 108 | 2020 |
| Electroencephalographic abnormalities in autism spectrum disorder: characteristics and therapeutic implications F Precenzano, L Parisi, V Lanzara, L Vetri, FF Operto, GMG Pastorino, ... Medicina 56 (9), 419, 2020 | 42 | 2020 |
| Epilepsy in NF1: a systematic review of the literature P Bernardo, G Cinalli, C Santoro Child's Nervous System 36 (10), 2333-2350, 2020 | 40 | 2020 |
| Cutaneous findings in neurofibromatosis type 1 B Ozarslan, T Russo, G Argenziano, C Santoro, V Piccolo Cancers 13 (3), 463, 2021 | 36 | 2021 |
| Clinical and genetic findings in children with neurofibromatosis type 1, Legius syndrome, and other related neurocutaneous disorders T Giugliano, C Santoro, A Torella, F Del Vecchio Blanco, A Grandone, ... Genes 10 (8), 580, 2019 | 36 | 2019 |
| Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? C Santoro, P Bernardo, A Coppola, U Pugliese, M Cirillo, T Giugliano, ... Italian journal of pediatrics 44, 1-9, 2018 | 36 | 2018 |
| Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience. PS Santoro C, Rocco FD, Kossorotoff M, Zerah M, Boddaert N, Calmon R, Vidaud ... Am J Med Genet A, 2017 | 36 | 2017 |
| Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1 C Santoro, A Maietta, T Giugliano, D Melis, S Perrotta, V Nigro, G Piluso European Journal of Human Genetics 23 (11), 1460-1461, 2015 | 36 | 2015 |
| LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies C Santoro, G Pacileo, G Limongelli, S Scianguetta, T Giugliano, G Piluso, ... BMC medical genetics 15, 1-6, 2014 | 35 | 2014 |
| Early-onset central diabetes insipidus is associated with de novo arginine vasopressin–neurophysin II or Wolfram syndrome 1 gene mutations S Perrotta, N Di Iorgi, FD Ragione, S Scianguetta, A Borriello, AEM Allegri, ... European journal of endocrinology 172 (4), 461-472, 2015 | 34 | 2015 |
| Effects of eltrombopag on in vitro macrophage polarization in pediatric immune thrombocytopenia A Di Paola, G Palumbo, P Merli, M Argenziano, C Tortora, L Strocchio, ... International Journal of Molecular Sciences 22 (1), 97, 2020 | 29 | 2020 |
| Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 C Santoro, T Giugliano, M Kraemer, A Torella, JC Schwitalla, M Cirillo, ... PLoS One 13 (7), e0200446, 2018 | 29 | 2018 |
| Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis A Grandone, A Torella, C Santoro, T Giugliano, F Del Vecchio Blanco, ... Clinical Genetics 90 (5), 445-450, 2016 | 25 | 2016 |
| Pretreatment endocrine disorders due to optic pathway gliomas in pediatric neurofibromatosis type 1: multicenter study C Santoro, S Perrotta, S Picariello, M Scilipoti, M Cirillo, L Quaglietta, ... The Journal of Clinical Endocrinology & Metabolism 105 (6), e2214-e2221, 2020 | 24 | 2020 |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ... Brain 145 (9), 3308-3327, 2022 | 22 | 2022 |
| Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype C Santoro, T Giugliano, MAB Melone, M Cirillo, C Schettino, P Bernardo, ... Clinical Genetics 93 (1), 138-143, 2018 | 19 | 2018 |
| Natural history of scoliosis in children with NF1: an observation study G Toro, C Santoro, D Ambrosio, G Landi, M Scilipoti, A Moretti, M Paoletta, ... Healthcare 9 (7), 881, 2021 | 17 | 2021 |
| Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive … F Napolitano, M Dell’Aquila, C Terracciano, G Franzese, MT Gentile, ... Genes 13 (7), 1130, 2022 | 15 | 2022 |
| Medullary unidentified bright objects in Neurofibromatosis type 1: a case series A D’Amico, F Mazio, L Ugga, R Cuocolo, M Cirillo, C Santoro, S Perrotta, ... BMC pediatrics 18, 1-5, 2018 | 15 | 2018 |
Giulio PilusoDip. di Medicina di Precisione, Università degli Studi della Campania "LuigiEmail verificata su unicampania.it
