檢索結果 - 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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