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Distinct Transcriptional Profiles in the Different Phenotypes of Neurofibroma from the Same Subject with Neurofibromatosis 1
Wang, Wei-Ning, Koguchi-Yoshioka, Hanako, Nimura, Keisuke, Watanabe, Rei, Tanemura, Atsushi, Fujimoto, Manabu, Wataya-Kaneda, Mari
Published in Journal of investigative dermatology (01.01.2024)
Published in Journal of investigative dermatology (01.01.2024)
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Journal Article
Serum miRNAs as biomarkers in Neurofibromatosis 1: New promising findings
Napolitano, Filomena, Abbadessa, Gianmarco, Dell'Aquila, Milena, Ravo, Maria, Ventola, Giovanna Maria, Marchese, Giovanna, Miele, Giuseppina, Franzese, Giuseppina, De Blasiis, Paolo, Palomba, Nicole Piera, Esposito, Teresa, Puoti, Gianfranco, Sampaolo, Simone, Paladino, Simona, Melone, Mariarosa Anna Beatrice
Published in Journal of the neurological sciences (15.09.2025)
Published in Journal of the neurological sciences (15.09.2025)
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Journal Article
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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Journal Article
School performance of children with neurofibromatosis 1: a nationwide population-based study
Doser, Karoline, Belmonte, Federica, Andersen, Klaus Kaae, Østergaard, John R., Hove, Hanne, Handrup, Mette M., Ejerskov, Cecilie, Mulvihill, John J., Winther, Jeanette F., Kenborg, Line
Published in European journal of human genetics : EJHG (01.12.2022)
Published in European journal of human genetics : EJHG (01.12.2022)
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Journal Article
Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1
Viola, Francesco, Villani, Edoardo, Natacci, Federica, Selicorni, Angelo, Melloni, Giulia, Vezzola, Diego, Barteselli, Giulio, Mapelli, Chiara, Pirondini, Cesare, Ratiglia, Roberto
Published in Ophthalmology (Rochester, Minn.) (01.02.2012)
Published in Ophthalmology (Rochester, Minn.) (01.02.2012)
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Journal Article
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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Journal Article
Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1
Tomson, Steffie N., Schreiner, Matthew J., Narayan, Manjari, Rosser, Tena, Enrique, Nicole, Silva, Alcino J., Allen, Genevera I., Bookheimer, Susan Y., Bearden, Carrie E.
Published in Human brain mapping (01.11.2015)
Published in Human brain mapping (01.11.2015)
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Journal Article
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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Journal Article
Management and prognosis of malignant peripheral nerve sheath tumors: The experience of the French Sarcoma Group (GSF-GETO)
Valentin, T., Le Cesne, A., Ray-Coquard, I., Italiano, A., Decanter, G., Bompas, E., Isambert, N., Thariat, J., Linassier, C., Bertucci, F., Bay, J.O., Bellesoeur, A., Penel, N., Le Guellec, S., Filleron, T., Chevreau, C.
Published in European journal of cancer (1990) (01.03.2016)
Published in European journal of cancer (1990) (01.03.2016)
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Journal Article
Neuroanatomical correlates of working memory performance in Neurofibromatosis 1
Sawyer, Cameron, Green, Jonathan, Lim, Ben, Pobric, Gorana, Jung, JeYoung, Vassallo, Grace, Evans, D Gareth, Stagg, Charlotte J, Parkes, Laura M, Stivaros, Stavros, Muhlert, Nils, Garg, Shruti
Published in Cerebral cortex communications (01.04.2022)
Published in Cerebral cortex communications (01.04.2022)
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Journal Article
Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
Veres, Klára, Nagy, Benedek, Ember, Zsófia, Bene, Judit, Hadzsiev, Kinga, Medvecz, Márta, Szabó, László, Szalai, Zsuzsanna Zsófia
Published in Biomedicines (01.01.2025)
Published in Biomedicines (01.01.2025)
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Journal Article
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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Journal Article
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)
Ferner, R E, Hughes, R A C, Hall, S M, Upadhyaya, M, Johnson, M R
Published in Journal of medical genetics (01.11.2004)
Published in Journal of medical genetics (01.11.2004)
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Journal Article
Severe cervical kyphosis in a complex child with NF1, case report and literature review
Nasto, Luigi Aurelio, De Prisco, Ferruccio, Pola, Enrico, Perrotta, Silverio, Miele, Giuseppina, Piatelli, Gianluca, Santoro, Claudia
Published in Child's nervous system (01.12.2025)
Published in Child's nervous system (01.12.2025)
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Journal Article
Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort
Falzon, Kevin, Drimtzias, Evangelos, Picton, Susan, Simmons, Ian
Published in British journal of ophthalmology (01.10.2018)
Published in British journal of ophthalmology (01.10.2018)
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Journal Article
Inflammatory/juvenile-like polyps in neurofibromatosis type 1 associated with epithelial dysplasia
Enea, Diana, Dray, Xavier, Guillerm, Erell, Guilloux, Antoine, Yver, Matthieu, Cervera, Pascale, Svrcek, Magali
Published in Virchows Archiv : an international journal of pathology (01.05.2024)
Published in Virchows Archiv : an international journal of pathology (01.05.2024)
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Journal Article
A systematic review and meta‐analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1
Crow, Andrew J. D., Janssen, Jennica M., Marshall, Carolina, Moffit, Anne, Brennan, Laura, Kohler, Christian G., Roalf, David R., Moberg, Paul J.
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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Journal Article