Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure von Bertini, Veronica, Ph.D, Ghirri, Paolo, M.D, Bicocchi, Maria Patrizia, Ph.D, Simi, Paolo, Ph.D, Valetto, Angelo, Ph.D

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625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability von Bertini, Veronica, Cambi, Francesca, Bruno, Rossella, Toschi, Benedetta, Forli, Francesca, Berrettini, Stefano, Simi, Paolo, Valetto, Angelo

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Torque Teno Virus Viremia Load Size in Patients with Selected Congenital Defects of Innate Immunity von Maggi, Fabrizio, Pifferi, Massimo, Michelucci, Angela, Albani, Melania, Sbranti, Selenia, Lanini, Letizia, Simi, Paolo, Macchia, Pierantonio, Pistello, Mauro, Bendinelli, Mauro

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Acro‐cardio‐facial syndrome: A microdeletion syndrome? von Toschi, Benedetta, Valetto, Angelo, Bertini, Veronica, Congregati, Caterina, Cantinotti, Massimiliano, Assanta, Nadia, Simi, Paolo

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Ring chromosome 21 and reproductive pattern: a familial case and review of the literature von Bertini, Veronica, Ph.D, Valetto, Angelo, Ph.D, Uccelli, Angela, Ph.D, Tarantino, Enrico, M.D, Simi, Paolo, Ph.D

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A 17q duplication prenatally detected von Bruno, Rossella, Valetto, Angelo, Bertini, Veronica, Cosini, Cinzia, Toschi, Benedetta, Congregati, Caterina, Rossi, Simona, Simi, Paolo

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Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia von Lai, Michele, Pifferi, Massimo, Bush, Andrew, Piras, Martina, Michelucci, Angela, Di Cicco, Maria, del Grosso, Ambra, Quaranta, Paola, Cursi, Chiara, Tantillo, Elena, Franceschi, Sara, Mazzanti, Maria Chiara, Simi, Paolo, Saggese, Giuseppe, Boner, Attilio, Pistello, Mauro

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Pharmacogenetics of anti-estrogen treatment of breast cancer von Del Re, Marzia, Michelucci, Angela, Simi, Paolo, Danesi, Romano

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Cortical myoclonus in angelman syndrome von Guerrini, Renzo, Bonanni, Paolo, de Lorey, Timothy M., Serratosa, José M., Moncla, Anne, Malzac, Perrine, Dravet, Charlotte, Igvet, Marie Odile, Bureau, Michelle, Genton, Pierre, Suisse, Georges, Thomas, Pierre, Sartucci, Ferdinando, Simi, Paolo

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DPYD6 plays an important role in fluoropyrimidine toxicity in addition to DPYD2A and c.2846A>T: a comprehensive analysis in 1254 patients von Del Re, Marzia, Cinieri, Saverio, Michelucci, Angela, Salvadori, Stefano, Loupakis, Fotios, Schirripa, Marta, Cremolini, Chiara, Crucitta, Stefania, Barbara, Cecilia, Di Leo, Angelo, Latiano, Tiziana Pia, Pietrantonio, Filippo, Di Donato, Samantha, Simi, Paolo, Passardi, Alessandro, De Braud, Filippo, Altavilla, Giuseppe, Zamagni, Claudio, Bordonaro, Roberto, Butera, Alfredo, Maiello, Evaristo, Pinto, Carmine, Falcone, Alfredo, Mazzotti, Valentina, Morganti, Riccardo, Danesi, Romano

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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion von Penco, Silvana, Lunetta, Christian, Corbo, Massimo, Ferrarese, Carlo, Tremolizzo, Lucio, Simi, Paolo, Michelucci, Angela, Fogli, Antonella, Sala, Gessica, Conti, Elisa, Rodriguez-Menendez, Virginia

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An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature von Bertini, Veronica, Viola, David, Vitti, Paolo, Simi, Paolo, Valetto, Angelo

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Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant von Del Re, Marzia, Quaquarini, Erica, Sottotetti, Federico, Michelucci, Angela, Palumbo, Raffaella, Simi, Paolo, Danesi, Romano, Bernardo, Antonio

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Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe genera... von Valetto, Angelo, Orsini, Alessandro, Bertini, Veronica, Toschi, Benedetta, Bonuccelli, Alice, Simi, Francesca, Sammartino, Irene, Taddeucci, Grazia, Simi, Paolo, Saggese, Giuseppe

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A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism von Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Simi, Paolo

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Clinical characteristics and genetic analysis in women with premature ovarian insufficiency von Ferrarini, Eleonora, Russo, Laura, Fruzzetti, Franca, Agretti, Patrizia, De Marco, Giuseppina, Dimida, Antonio, Gianetti, Elena, Simoncini, Tommaso, Simi, Paolo, Baldinotti, Fulvia, Benelli, Elena, Pucci, Enrico, Pinchera, Aldo, Vitti, Paolo, Tonacchera, Massimo

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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia von Pifferi, Massimo, Bush, Andrew, Michelucci, Angela, Di Cicco, Maria, Piras, Martina, Caramella, Davide, Mazzei, Federica, Neri, Maria, Pioggia, Giovanni, Tartarisco, Gennaro, Saggese, Giuseppe, Simi, Paolo, Boner, Attilio L

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Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation von Di Marco, Chiara, Bulotta, Anna Lavinia, Varetti, Concetta, Dosa, Laura, Michelucci, Angela, Baldinotti, Fulvia, Meucci, Daniela, Castagnini, Cinzia, Lo Rizzo, Caterina, Di Maggio, Giovanni, Simi, Paolo, Mari, Francesca, Bertelloni, Silvano, Renieri, Alessandra, Messina, Mario

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Myelodysplastic Syndromes: A Multidisciplinary Integrated Diagnostic Work-up for Patients’ Risk Stratification von Ciabatti, Elena, Ferreri, Maria Immacolata, Valetto, Angelo, Guazzelli, Alice, Bertini, Veronica, Grassi, Susanna, Guerrini, Francesca, Azzarà, Antonio, Metelli, Maria Rita, Petrini, Iacopo, Simi, Paolo, Petrini, Mario, Galimberti, Sara

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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany von Orsucci, Daniele, Petrucci, Loredana, Ienco, Elena Caldarazzo, Chico, Lucia, Simi, Paolo, Fogli, Antonella, Baldinotti, Fulvia, Simoncini, Costanza, LoGerfo, Annalisa, Carlesi, Cecilia, Arnoldi, Alessia, Bassi, Maria Teresa, Siciliano, Gabriele, Bonuccelli, Ubaldo, Mancuso, Michelangelo

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