Works matching Neurofibromatosis type 1 (NF1)

Results: 1659
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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
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    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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    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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    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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