Resultats de la cerca - Fichera, Marco

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase per Fichera, Giuseppe A., Fichera, Marco, Milone, Giuseppe

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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDerm... per Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco

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Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion per Nuttle, Xander, Huddleston, John, O'Roak, Brian J., Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E.

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Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach per Musso, Nicolò, Bonacci, Paolo Giuseppe, Bongiorno, Dafne, Stracquadanio, Stefano, Bivona, Dalida Angela, Palermo, Concetta Ilenia, Scalia, Guido, Fichera, Marco, Stefani, Stefania

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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder per Scuderi, Carmela, Saccuzzo, Lucia, Vinci, Mirella, Castiglia, Lucia, Galesi, Ornella, Salemi, Michele, Mattina, Teresa, Borgione, Eugenia, Città, Santina, Romano, Corrado, Fichera, Marco

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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome per Barresi, Vincenza, Ragusa, Angela, Fichera, Marco, Musso, Nicolò, Castiglia, Lucia, Rappazzo, Giancarlo, Travali, Salvatore, Mattina, Teresa, Romano, Corrado, Cocchi, Guido, Condorelli, Daniele F

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Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily per Stella, Stefania, Vitale, Silvia Rita, Martorana, Federica, Massimino, Michele, Pavone, Giuliana, Lanzafame, Katia, Bianca, Sebastiano, Barone, Chiara, Gorgone, Cristina, Fichera, Marco, Manzella, Livia

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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome per Calì, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio

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Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis per Pillai-Kastoori, Lakshmi, Wen, Wen, Wilson, Stephen G., Strachan, Erin, Lo-Castro, Adriana, Fichera, Marco, Musumeci, Sebastiano A., Lehmann, Ordan J., Morris, Ann C.

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies per Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco

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Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response per Fichera, Marco, Barone, Rita, Grillo, Lucia, De Grandi, Mariaclara, Fiore, Valerio, Morana, Ignazio, Maniscalchi, Tiziana, Vinci, Mirella, Amata, Silvestra, Spalletta, Angela, Sorge, Giovanni, Signorelli, Salvatore Santo

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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity per Cellini, Elena, Vetro, Annalisa, Conti, Valerio, Marini, Carla, Doccini, Viola, Clementella, Claudia, Parrini, Elena, Giglio, Sabrina, Della Monica, Matteo, Fichera, Marco, Musumeci, Sebastiano Antonino, Guerrini, Renzo

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability per Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca

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Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability per Mencarelli, Maria Antonietta, Tassini, Maria, Pollazzon, Marzia, Vivi, Antonio, Calderisi, Marco, Falco, Michele, Fichera, Marco, Monti, Lucia, Buoni, Sabrina, Mari, Francesca, Engelke, Udo, Wevers, Ron A, Hayek, Joussef, Renieri, Alessandra

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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes per Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID per van Bon, Bregje W.M., Coe, Bradley P., Bernier, Raphael, Green, Cherie, Gerdts, Jennifer, Witherspoon, Kali, Kleefstra, Tjitske, Willemsen, Marjolein H., Kumar, Raman, Bosco, Paolo, Fichera, Marco, Li, Deana, Amaral, David, Cristofoli, Francesca, Peeters, Hilde, Haan, Eric, Romano, Corrado, Mefford, Heather C., Scheffer, Ingrid, Gecz, Jozef, de Vries, Bert B.A., Eichler, Evan E.

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A SWI/SNF related autism syndrome caused by de novo mutations in ADNP per Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures per Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E

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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females per Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, Bernardina, Bernardo dalla, Zuffardi, Orsetta

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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females per Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, dalla Bernardina, Bernardo, Zuffardi, Orsetta

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