検索結果 - Peron, Angela

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 著者: Peron, Angela, Canevini, Maria Paola, Ghelma, Filippo, Di Marco, Fabiano, Vignoli, Aglaia

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SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 著者: Di Fede, Elisabetta, Peron, Angela, Colombo, Elisa Adele, Gervasini, Cristina, Vignoli, Aglaia

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Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition 著者: Peron, Angela, Canevini, Maria Paola, Ghelma, Filippo, Arancio, Rosangela, Savini, Miriam Nella, Vignoli, Aglaia

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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes 著者: Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola

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The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 著者: Cervi, Francesca, Saletti, Veronica, Turner, Katherine, Peron, Angela, Bulgheroni, Sara, Taddei, Matilde, La Briola, Francesca, Canevini, Maria Paola, Vignoli, Aglaia

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Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? 著者: Di Marco, Fabiano, Palumbo, Giuseppina, Terraneo, Silvia, Imeri, Gianluca, Lesma, Elena, Sverzellati, Nicola, Peron, Angela, Gualandri, Lorenzo, Canevini, Maria Paola, Centanni, Stefano

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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 著者: Parodi, Chiara, Di Fede, Elisabetta, Peron, Angela, Viganò, Ilaria, Grazioli, Paolo, Castiglioni, Silvia, Finnell, Richard H., Gervasini, Cristina, Vignoli, Aglaia, Massa, Valentina

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Epilepsy in adult patients with tuberous sclerosis complex 著者: Vignoli, Aglaia, La Briola, Francesca, Turner, Katherine, Peron, Angela, Vannicola, Chiara, Chiesa, Valentina, Zambrelli, Elena, Bruschi, Fabio, Viganò, Ilaria, Canevini, Maria Paola

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Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy 著者: Peron, Angela, La Briola, Francesca, Bruschi, Fabio, Terraneo, Silvia, Vannicola, Chiara, Previtali, Roberto, Perazzoli, Sabrina, Morenghi, Emanuela, Bulfamante, Gaetano, Vignoli, Aglaia, Canevini, Maria Paola

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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? 著者: Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elżbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, Kotulska-Jóźwiak, Katarzyna

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Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study 著者: Terraneo, Silvia, Lesma, Elena, Ancona, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, Torre, Olga, Giuliani, Lisa, Centanni, Stefano, Peron, Angela, Tresoldi, Silvia, Cetrangolo, Paola, Di Marco, Fabiano

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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 著者: Di Marco, Fabiano, Terraneo, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, La Briola, Francesca, Tresoldi, Silvia, Volpi, Angela, Gualandri, Lorenzo, Ghelma, Filippo, Alfano, Rosa Maria, Montanari, Emanuele, Gorio, Alfredo, Lesma, Elena, Peron, Angela, Canevini, Maria Paola, Centanni, Stefano

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 著者: Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola

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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 著者: Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia

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Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing 著者: Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna, Mammi, Isabella, Milani, Donatella, Peron, Angela, Sartori, Stefano, Toldo, Irene, Soli, Fiorenza, Turolla, Licia, Stanzial, Franco, Benedicenti, Francesco, Marino-Buslje, Cristina, Tosatto, Silvio C.E., Murgia, Alessandra, Leonardi, Emanuela

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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 著者: Bain, Jennifer M., Thornburg, Olivia, Pan, Cheryl, Rome-Martin, Donnielle, Boyle, Lia, Fan, Xiao, Devinsky, Orrin, Frye, Richard, Hamp, Silke, Keator, Cynthia G., LaMarca, Nicole M., Maddocks, Alexis B.R., Madruga-Garrido, Marcos, Niederhoffer, Karen Y., Novara, Francesca, Peron, Angela, Poole-Di Salvo, Elizabeth, Salazar, Rachel, Skinner, Steven A., Soares, Gabriela, Goldman, Sylvie, Chung, Wendy K.

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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 著者: Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

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Perinatal Distress in 1p36 Deletion Syndrome can Mimic Hypoxic Ischemic Encephalopathy 著者: Carter, Lauren B., Battaglia, Agatino, Cherry, Athena, Manning, Melanie A., Ruzhnikov, Maura RZ, Bird, Lynne M., Dowsett, Leah, Graham, John M., Alkuraya, Fowzan S., Hashem, Mais, Dinulos, Mary Beth, Vallee, Stephanie, Adam, Margaret P., Glass, Ian, Beck, Anita E., Stevens, Cathy A., Zackai, Elaine, McDougall, Carey, Keena, Beth, Peron, Angela, Vignoli, Aglaia, Seaver, Laurie H., Slavin, Thomas P., Hudgins, Louanne

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 著者: Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel MA, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin AM, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

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