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Year Number of Results
1996 1
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2002 1
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2019 2
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41 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: diana mc. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Chemotherapy-associated paronychia: Do not forget the children.
Borgia P, Piccolo G, Diana MC, Viglizzo G. Borgia P, et al. Among authors: diana mc. J Am Acad Dermatol. 2023 Jan;88(1):e59. doi: 10.1016/j.jaad.2022.09.045. Epub 2022 Oct 4. J Am Acad Dermatol. 2023. PMID: 36206933 No abstract available.
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana MC, Madia F, Duca MD, Santangelo A, Capra V, Striano P, Zara F, Scala M. Chelleri C, et al. Among authors: diana mc. Am J Med Genet A. 2024 Dec;194(12):e63824. doi: 10.1002/ajmg.a.63824. Epub 2024 Jul 19. Am J Med Genet A. 2024. PMID: 39031930
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: diana mc. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Listeria Meningitis in an Immunocompetent Child.
Villa G, Diana MC, Solari N, Bandettini R, Sorrentino S, Loy A, Losurdo G, Renna S. Villa G, et al. Among authors: diana mc. Pediatr Emerg Care. 2017 Aug;33(8):579-581. doi: 10.1097/PEC.0000000000000687. Pediatr Emerg Care. 2017. PMID: 27055168
Anterior chest wall deformities in children with neurofibromatosis type 1.
Chelleri C, Guerriero V, Torre M, Brolatti N, Piccolo G, Mattioli G, Boero S, Minetti C, Diana MC. Chelleri C, et al. Among authors: diana mc. Acta Paediatr. 2021 Feb;110(2):594-595. doi: 10.1111/apa.15529. Epub 2020 Aug 29. Acta Paediatr. 2021. PMID: 32777120 No abstract available.
Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.
Morello A, Scala M, Schiavetti I, Diana MC, Severino M, Tortora D, Piatelli G, Pavanello M. Morello A, et al. Among authors: diana mc. Childs Nerv Syst. 2024 Jun;40(6):1731-1741. doi: 10.1007/s00381-024-06304-z. Epub 2024 Feb 6. Childs Nerv Syst. 2024. PMID: 38316674 Free PMC article.
41 results