Resultados de procura - Colavito, Davide

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families por Stabile, Mariano, Colavito, Davide, Del Giudice, Elda, Rispoli, Anna F., Ingenito, Marina C., Naumova, Anna K.

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Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis por Piermarocchi, Stefano, Miotto, Stefania, Colavito, Davide, Del Giudice, Elda, Leon, Alberta, Maritan, Veronica, Piermarocchi, Rita, Tormene, Alma Patrizia

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Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review por Pinon, Michele, Carboni, Michele, Colavito, Davide, Cisarò, Fabio, Peruzzi, Licia, Pizzol, Antonio, Calosso, Giulia, David, Ezio, Calvo, Pier Luigi

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Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency por Matarazzo, Lorenza, Ragnoni, Valentina, Malaventura, Cristina, Leon, Alberta, Colavito, Davide, Vigna, Giovanni Battista, Lanza, Giovanni, Sonzogni, Aurelio, Maggiore, Giuseppe

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Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene por Colavito, Davide, Maritan, Veronica, Suppiej, Agnese, Del Giudice, Elda, Mazzarolo, Monica, Miotto, Stefania, Farina, Sofia, Dalle Carbonare, Maurizio, Piermarocchi, Stefano, Leon, Alberta

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Intrahepatic cholestasis of pregnancy: new insights into its pathogenesis por Floreani, Annarosa, Caroli, Diego, Lazzari, Roberta, Memmo, Alessia, Vidali, Elisa, Colavito, Davide, Arrigo, Antonello D’, Leon, Alberta, Romero, Roberto, Gervasi, Maria Teresa

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Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant por Marzollo, Antonio, Bresolin, Silvia, Colavito, Davide, Cani, Alice, Gaio, Paola, Bosa, Luca, Mescoli, Claudia, Rossini, Linda, Barzaghi, Federica, Perilongo, Giorgio, Leon, Alberta, Biffi, Alessandra, Cananzi, Mara

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

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Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease por Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, Muise, Aleixo M.

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+IFIH1 Loss-of-function variants contribute to Very Early Onset Inflammatory Bowel Disease por Cananzi, Mara, Wohler, Elizabeth, Marzollo, Antonio, Colavito, Davide, You, Jing, Jing, Huie, Bresolin, Silvia, Gaio, Paola, Martin, Renan, Mescoli, Claudia, Bade, Sangeeta, Posey, Jennifer E., Carbonare, Maurizio Dalle, Tung, Wesley, Jhangiani, Shalini N., Bosa, Luca, Zhang, Yu, Filho, Joselito Sobreira, Gabelli, Maria, Kellermayer, Richard, Kader, Howard A., Oliva-Hemker, Maria, Perilongo, Giorgio, Lupski, James R., Biffi, Alessandra, Valle, David, Leon, Alberta, de Macena Sobreira, Nara Lygia, Su, Helen C., Guerrerio, Anthony L.

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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido

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