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Year Number of Results
2010 1
2013 1
2014 1
2015 2
2016 1
2017 4
2018 4
2019 10
2020 12
2021 17
2022 6
2023 8
2024 2

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62 results

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Page 1
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. Among authors: santoro c. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Cutaneous Findings in Neurofibromatosis Type 1.
Ozarslan B, Russo T, Argenziano G, Santoro C, Piccolo V. Ozarslan B, et al. Among authors: santoro c. Cancers (Basel). 2021 Jan 26;13(3):463. doi: 10.3390/cancers13030463. Cancers (Basel). 2021. PMID: 33530415 Free PMC article. Review.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Umbrella Review: Association Between Antipsychotic Drugs and Metabolic Syndrome Hallmarks in Children and Adolescents.
Carnovale C, Battini V, Santoro C, Riccio MP, Carucci S, Nobile M, Formisano P, Bravaccio C, Zuddas A, Clementi E, Pozzi M, Pisano S. Carnovale C, et al. Among authors: santoro c. J Am Acad Child Adolesc Psychiatry. 2024 Mar;63(3):313-335. doi: 10.1016/j.jaac.2023.04.018. Epub 2023 Jun 23. J Am Acad Child Adolesc Psychiatry. 2024. PMID: 37391174 Free article.
Superimposed Blaschkoid lichen planus pigmentosus.
Piccolo V, Corneli P, Ferrara G, Russo T, Santoro C, Ronchi A, Zalaudek I, Alfano R, Argenziano G. Piccolo V, et al. Among authors: santoro c. Ital J Dermatol Venerol. 2021 Dec;156(Suppl. 1 to No. 6):69-70. doi: 10.23736/S2784-8671.19.06379-X. Epub 2019 Jun 17. Ital J Dermatol Venerol. 2021. PMID: 31210466 No abstract available.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
62 results