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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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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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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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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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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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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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Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1
Bausch, Birke, Borozdin, Wiktor, Mautner, Victor F., Hoffmann, Michael M., Boehm, Detlef, Robledo, Mercedes, Cascon, Alberto, Harenberg, Tomas, Schiavi, Francesca, Pawlu, Christian, Peczkowska, Mariola, Letizia, Claudio, Calvieri, Stefano, Arnaldi, Giorgio, Klingenberg-Noftz, Rolf D., Reisch, Nicole, Fassina, Ambrogio, Brunaud, Laurent, Walter, Martin A., Mannelli, Massimo, MacGregor, Graham, Palazzo, F. Fausto, Barontini, Marta, Walz, Martin K., Kremens, Bernhard, Brabant, Georg, Pfäffle, Roland, Koschker, Ann-Cathrin, Lohoefner, Felix, Mohaupt, Markus, Gimm, Oliver, Jarzab, Barbara, McWhinney, Sarah R., Opocher, Giuseppe, Januszewicz, Andrzej, Kohlhase, Jürgen, Eng, Charis, Neumann, Hartmut P. H.
Published in The journal of clinical endocrinology and metabolism (01.07.2007)
Published in The journal of clinical endocrinology and metabolism (01.07.2007)
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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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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease
Pinna, Valentina, Daniele, Paola, Calcagni, Giulio, Mariniello, Lucio, Criscione, Roberta, Giardina, Chiara, Lepri, Francesca Romana, Hozhabri, Hossein, Alberico, Angela, Cavone, Stefania, Morella, Annunziata Tina, Mandile, Roberta, Annunziata, Francesca, Di Giosaffatte, Niccolò, D’Asdia, Maria Cecilia, Versacci, Paolo, Capolino, Rossella, Strisciuglio, Pietro, Giustini, Sandra, Melis, Daniela, Digilio, Maria Cristina, Tartaglia, Marco, Marino, Bruno, De Luca, Alessandro
Published in Genes (04.09.2019)
Published in Genes (04.09.2019)
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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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Susceptibility to Astrocytoma in Mice Mutant for Nf1 and Trp53 Is Linked to Chromosome 11 and Subject to Epigenetic Effects
Reilly, Karlyne M., Tuskan, Robert G., Christy, Emily, Loisel, Dagan A., Ledger, Jeremy, Bronson, Roderick T., Smith, C. Dahlem, Tsang, Shirley, Munroe, David J., Jacks, Tyler, Vogelstein, Bert
Published in Proceedings of the National Academy of Sciences - PNAS (31.08.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (31.08.2004)
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Bone mineral metabolism in patients with neurofibromatosis type 1 (von Recklingausen disease)
Petramala, Luigi, Giustini, Sandra, Zinnamosca, Laura, Marinelli, Cristiano, Colangelo, Luciano, Cilenti, Giuseppina, Formicuccia, Maria Chiara, D’Erasmo, Emilio, Calvieri, Stefano, Letizia, Claudio
Published in Archives of Dermatological Research (01.05.2012)
Published in Archives of Dermatological Research (01.05.2012)
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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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Immune Response and Mitochondrial Metabolism Are Commonly Deregulated in DMD and Aging Skeletal Muscle
Baron, Daniel, Magot, Armelle, Ramstein, Gérard, Steenman, Marja, Fayet, Guillemette, Chevalier, Catherine, Jourdon, Philippe, Houlgatte, Rémi, Savagner, Frédérique, Pereon, Yann
Published in PloS one (09.11.2011)
Published in PloS one (09.11.2011)
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A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1
Cai, S.P., Fan, N., Chen, J., Xia, Z.L., Wang, Y., Zhou, X.M., Yin, Y., Wen, T.L., Xia, Q.J., Liu, X.Y., Wang, H.Y.
Published in Genetics and molecular research (24.07.2014)
Published in Genetics and molecular research (24.07.2014)
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Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population
Marui, Tetsuya, Hashimoto, Ohiko, Nanba, Eiji, Kato, Chieko, Tochigi, Mamoru, Umekage, Tadashi, Ishijima, Michiko, Kohda, Kazuhisa, Kato, Nobumasa, Sasaki, Tsukasa
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.11.2004)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.11.2004)
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Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1
Luca, Alessandro De, Schirinzi, Annalisa, Buccino, Anna, Bottillo, Irene, Sinibaldi, Lorenzo, Torrente, Isabella, Ciavarella, Angela, Dottorini, Tania, Porciello, Roberto, Giustini, Sandra, Calvieri, Stefano, Dallapiccola, Bruno
Published in Human mutation (01.06.2004)
Published in Human mutation (01.06.2004)
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