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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F, Dell'Aquila M, Terracciano C, Franzese G, Gentile MT, Piluso G, Santoro C, Colavito D, Patanè A, De Blasiis P, Sampaolo S, Paladino S, Melone MAB. Napolitano F, et al. Among authors: piluso g. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130. Genes (Basel). 2022. PMID: 35885913 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
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. Among authors: piluso g. BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44. BMC Med Genet. 2014. PMID: 24767283 Free PMC article.
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA. Esposito T, et al. Among authors: piluso g. J Neurochem. 2015 Dec;135(6):1123-8. doi: 10.1111/jnc.13396. Epub 2015 Nov 12. J Neurochem. 2015. PMID: 26478990 Free article.
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: piluso g. 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
110 results