Søgeresultater - Angela Peron

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

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

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

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P566: Global genetic health assessment project: Let's not leave anyone behind af Aya Abu-El-Haija, Stacey Cook, Nathan Keegan, Angela Peron

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

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

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Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis af Marco Montini, Lorenzo Bonacchi, Diletta Sidoti, Stefano Cuccoli, Marilena Pantaleo, Angela Peron, Irene Scuffi, Marcos F. DosSantos, Romina Nassini, Francesco De Logu, Laura Papi

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

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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature af Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

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

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O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions af Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights af Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity af Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder af Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden, Gökberk Alagöz, Michael S. Hildebrand, Alexander J. M. Dingemans, Jean Corbally, Joery den Hoed, Ezequiel Mendoza, Willemijn J. J. Claassen, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert B. A. de Vries, Frances Elmslie, Giovanni Battista Ferrero, Nadieh A. Jansen, Ingrid M. B. H. van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E. Scheffer, Fabio Sirchia, Samantha J. Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K. Chung, Marion Gerard, Vanesa López-González, Elizabeth Palmer, Angela T. Morgan, Bregje W. van Bon, Simon E. Fisher

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