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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Alesi, Viola, Lepri, Francesca Romana, Dentici, Maria Lisa, Genovese, Silvia, Sallicandro, Ester, Bejo, Kristel, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio, Digilio, Maria Cristina
Published in European journal of human genetics : EJHG (01.11.2022)
Published in European journal of human genetics : EJHG (01.11.2022)
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Neurofibromin regulates corticostriatal inhibitory networks during working memory performance
Shilyansky, Carrie, Karlsgodt, Katherine H., Cummings, Damian M., Sidiropoulou, Kyriaki, Hardt, Molly, James, Alex S., Ehninger, Dan, Bearden, Carrie E., Poirazi, Panayiota, Jentsch, J. David, Cannon, Tyrone D., Levine, Michael S., Silva, Alcino J., Thompson, Richard F.
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.2010)
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Temporal regulation of tumor growth in nocturnal mammals: In vivo studies and chemotherapeutical potential
Wagner, Paula M, Prucca, César G, Velazquez, Fabiola N, Sosa Alderete, Lucas G, Caputto, Beatriz L, Guido, Mario E
Published in The FASEB journal (01.02.2021)
Published in The FASEB journal (01.02.2021)
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Genomic and transcriptomic landscape of conjunctival melanoma
Cisarova, Katarina, Folcher, Marc, El Zaoui, Ikram, Pescini-Gobert, Rosanna, Peter, Virginie G., Royer-Bertrand, Beryl, Zografos, Leonidas, Schalenbourg, Ann, Nicolas, Michael, Rimoldi, Donata, Leyvraz, Serge, Riggi, Nicolò, Moulin, Alexandre P., Rivolta, Carlo
Published in PLoS genetics (31.12.2020)
Published in PLoS genetics (31.12.2020)
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A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1
Esposito, Teresa, Piluso, Giulio, Saracino, Dario, Uccello, Rossella, Schettino, Carla, Dato, Clemente, Capaldo, Guglielmo, Giugliano, Teresa, Varriale, Bruno, Paolisso, Giuseppe, Di Iorio, Giuseppe, Melone, Mariarosa A. B.
Published in Journal of neurochemistry (01.12.2015)
Published in Journal of neurochemistry (01.12.2015)
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Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs
Miller, David T., Cortés-Ciriano, Isidro, Pillay, Nischalan, Hirbe, Angela C., Snuderl, Matija, Bui, Marilyn M., Piculell, Katherine, Al-Ibraheemi, Alyaa, Dickson, Brendan C., Hart, Jesse, Jones, Kevin, Jordan, Justin T., Kim, Raymond H., Lindsay, Daniel, Nishida, Yoshihiro, Ullrich, Nicole J., Wang, Xia, Park, Peter J., Flanagan, Adrienne M.
Published in Genes (02.04.2020)
Published in Genes (02.04.2020)
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Functional and morphological cardiovascular alterations associated with neurofibromatosis 1
Cutruzzolà, Antonio, Irace, Concetta, Frazzetto, Marco, Sabatino, Jolanda, Gullace, Rosa, De Rosa, Salvatore, Spaccarotella, Carmen, Concolino, Daniela, Indolfi, Ciro, Gnasso, Agostino
Published in Scientific reports (21.07.2020)
Published in Scientific reports (21.07.2020)
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Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2
Chinthalapudi, Krishna, Mandati, Vinay, Zheng, Jie, Sharff, Andrew J., Bricogne, Gerard, Griffin, Patrick R., Kissil, Joseph, Izard, Tina
Published in Nature communications (06.04.2018)
Published in Nature communications (06.04.2018)
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Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1
Jentarra, Garilyn M, Rice, Stephen Gabe, Olfers, Shannon, Rajan, Chris, Saffen, David M, Narayanan, Vinodh
Published in Journal of child neurology (01.06.2012)
Published in Journal of child neurology (01.06.2012)
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An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Published in American journal of human genetics (01.01.2007)
Published in American journal of human genetics (01.01.2007)
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Published in Cancers (14.04.2021)
Published in Cancers (14.04.2021)
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Breast density in NF1 women: a retrospective study
De Santis, R., Cagnoli, G., Rinaldi, B., Consonni, D., Conti, Beatrice, Eoli, M., Liguori, A., Cosentino, M., Carrafiello, G., Garrone, O., Giroda, M., Cesaretti, C., Sfondrini, M.S., Gambini, D., Natacci, F.
Published in Familial cancer (01.03.2024)
Published in Familial cancer (01.03.2024)
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Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
D'Amico, Alessandra, Rosano, Carmen, Pannone, Luca, Pinna, Valentina, Assunto, Antonia, Motta, Marialetizia, Ugga, Lorenzo, Daniele, Paola, Mandile, Roberta, Mariniello, Lucio, Siano, Maria Anna, Santoro, Claudia, Piluso, Giulio, Martinelli, Simone, Strisciuglio, Pietro, De Luca, Alessandro, Tartaglia, Marco, Melis, Daniela
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra
Published in Orphanet journal of rare diseases (23.03.2021)
Published in Orphanet journal of rare diseases (23.03.2021)
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DR4 mediates the progression, invasion, metastasis and survival of colorectal cancer through the Sp1/NF1 switch axis on genomic locus
Wu, Shenshen, Meng, Qingtao, Zhang, Chengcheng, Sun, Hao, Lu, Runze, Gao, Na, Yang, Hongbao, Li, Xiaobo, Aschner, Michael, Chen, Rui
Published in International journal of cancer (15.07.2018)
Published in International journal of cancer (15.07.2018)
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Alterations in White Matter Microstructure in Neurofibromatosis-1
Karlsgodt, Katherine H., Rosser, Tena, Lutkenhoff, Evan S., Cannon, Tyrone D., Silva, Alcino, Bearden, Carrie E.
Published in PloS one (19.10.2012)
Published in PloS one (19.10.2012)
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