Works matching Neurofibromatosis type 1 (NF1)

Results: 1690
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    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

    Published in:
    Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
    By:
    • Napolitano, Filomena;
    • Dell'Aquila, Milena;
    • Terracciano, Chiara;
    • Franzese, Giuseppina;
    • Gentile, Maria Teresa;
    • Piluso, Giulio;
    • Santoro, Claudia;
    • Colavito, Davide;
    • Patanè, Anna;
    • De Blasiis, Paolo;
    • Sampaolo, Simone;
    • Paladino, Simona;
    • Melone, Mariarosa Anna Beatrice
    Publication type:
    Article
    16

    Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

    Published in:
    Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
    By:
    • 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
    Publication type:
    Article
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    Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00258-w
    By:
    • Koster, R.;
    • Brandão, R. D.;
    • Tserpelis, D.;
    • van Roozendaal, C. E. P.;
    • van Oosterhoud, C. N.;
    • Claes, K. B. M.;
    • Paulussen, A. D. C.;
    • Sinnema, M.;
    • Vreeburg, M.;
    • van der Schoot, V.;
    • Stumpel, C. T. R. M.;
    • Broen, M. P. G.;
    • Spruijt, L.;
    • Jongmans, M. C. J.;
    • Lesnik Oberstein, S. A. J.;
    • Plomp, A. S.;
    • Misra-Isrie, M.;
    • Duijkers, F. A.;
    • Louwers, M. J.;
    • Szklarczyk, R.
    Publication type:
    Article
    29

    Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths.

    Published in:
    Nowotwory, 2022, v. 72, n. 2, p. 106, doi. 10.5603/NJO.2022.0018
    By:
    • Rutkowski, Piotr;
    • Raciborska, Anna;
    • Szumera-Ciećkiewicz, Anna;
    • Sobczuk, Paweł;
    • Spałek, Mateusz;
    • Koseła-Paterczyk, Hanna;
    • Ługowska, Iwona;
    • Bilska, Katarzyna;
    • Gos, Monika;
    • Ryś, Janusz;
    • Chmielik, Ewa;
    • Tysarowski, Andrzej;
    • Zaborowski, Konrad;
    • Oczko-Wojciechowska, Małgorzata;
    • Castaneda-Wysocka, Patrycja;
    • Makuła, Donata;
    • Zdzienicki, Marcin;
    • Ziętek, Marcin;
    • Fonrobert, Piotr;
    • Dolecki, Kamil
    Publication type:
    Article
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    Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
    By:
    • Emmerich, Denise;
    • Zemojtel, Tomasz;
    • Hecht, Jochen;
    • Krawitz, Peter;
    • Spielmann, Malte;
    • Kühnisch, Jirko;
    • Kobus, Karolina;
    • Osswald, Monika;
    • Heinrich, Verena;
    • Berlien, Peter;
    • Müller, Ute;
    • Mautner, Victor-F;
    • Wimmer, Katharina;
    • Robinson, Peter N;
    • Vingron, Martin;
    • Tinschert, Sigrid;
    • Mundlos, Stefan;
    • Kolanczyk, Mateusz
    Publication type:
    Article
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    Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).

    Published in:
    Acta Neuropathologica, 2021, v. 141, n. 4, p. 605, doi. 10.1007/s00401-021-02276-5
    By:
    • Fisher, Michael J.;
    • Jones, David T. W.;
    • Li, Yimei;
    • Guo, Xiaofan;
    • Sonawane, Poonam S.;
    • Waanders, Angela J.;
    • Phillips, Joanna J.;
    • Weiss, William A.;
    • Resnick, Adam C.;
    • Gosline, Sara;
    • Banerjee, Jineta;
    • Guinney, Justin;
    • Gnekow, Astrid;
    • Kandels, Daniela;
    • Foreman, Nicholas K.;
    • Korshunov, Andrey;
    • Ryzhova, Marina;
    • Massimi, Luca;
    • Gururangan, Sri;
    • Kieran, Mark W.
    Publication type:
    Article
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    Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.

    Published in:
    Journal of Child Neurology, 2021, v. 36, n. 8, p. 625, doi. 10.1177/0883073820981270
    By:
    • Biotteau, Maëlle;
    • Tournay, Elodie;
    • Baudou, Eloise;
    • Destarac, Sandrine;
    • Iannuzzi, Stéphanie;
    • Faure-Marie, Nathalie;
    • Castelnau, Pierre;
    • Schweitzer, Elisabeth;
    • Rodriguez, Diana;
    • Kemlin, Isabelle;
    • Dorison, Nathalie;
    • Rivier, François;
    • Carneiro, Maryline;
    • Preclaire, Elodie;
    • Barbarot, Sebastien;
    • Lauwers-Cancès, Valérie;
    • Chaix, Yves
    Publication type:
    Article
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