Search Results - Angela Peron
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Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? by Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni
Published in BMC Pulmonary Medicine (2017-07-01)Get full text
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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature by 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
Published in Endocrine Connections (2024-10-01)Get full text
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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis. by 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
Published in PLoS ONE (2016-01-01)Get full text
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O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions by 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
Published in Genetics in Medicine Open (2023-01-01)Get full text
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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights by 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
Published in Scientific Reports (2024-07-01)Get full text
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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 by 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
Published in Genetics in Medicine Open (2023-01-01)Get full text
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder by 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
Published in Nature Communications (2025-10-01)Get full text
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