Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
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A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Published in International journal of molecular sciences (20.02.2021)
Published in International journal of molecular sciences (20.02.2021)
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Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
Davis, Kyle W, Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G
Published in International journal of molecular sciences (22.03.2019)
Published in International journal of molecular sciences (22.03.2019)
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
Orlando, Valeria, Di Tommaso, Silvia, Alesi, Viola, Loddo, Sara, Genovese, Silvia, Catino, Giorgia, Martucci, Licia, Roberti, Maria Cristina, Trivisano, Marina, Dentici, Maria Lisa, Specchio, Nicola, Dallapiccola, Bruno, Ferretti, Alessandro, Novelli, Antonio
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism
Lombardo, Antonietta, Sinibaldi, Lorenzo, Genovese, Silvia, Catino, Giorgia, Mei, Valerio, Pompili, Daniele, Sallicandro, Ester, Falasca, Roberto, Liambo, Maria Teresa, Faggiano, Maria Vittoria, Roberti, Maria Cristina, Di Donato, Maddalena, Vitelli, Anna, Russo, Serena, Giannini, Rosalinda, Micalizzi, Alessia, Pietrafusa, Nicola, Digilio, Maria Cristina, Novelli, Antonio, Fusco, Lucia, Alesi, Viola
Published in International journal of molecular sciences (24.06.2024)
Published in International journal of molecular sciences (24.06.2024)
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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
Minotti, Chiara, Graziani, Ludovico, Sallicandro, Ester, Digilio, Maria Cristina, Falasca, Roberto, Alesi, Viola, Novelli, Giuseppe, Dentici, Maria Lisa, Loddo, Sara, Novelli, Antonio
Published in Frontiers in genetics (06.02.2024)
Published in Frontiers in genetics (06.02.2024)
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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo
Published in Frontiers in psychiatry (15.01.2024)
Published in Frontiers in psychiatry (15.01.2024)
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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo
Published in Frontiers in psychiatry (13.02.2024)
Published in Frontiers in psychiatry (13.02.2024)
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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis
Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio
Published in International journal of molecular sciences (13.01.2021)
Published in International journal of molecular sciences (13.01.2021)
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Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
Alesi, Viola, Genovese, Silvia, Lepri, Francesca Romana, Catino, Giorgia, Loddo, Sara, Orlando, Valeria, Di Tommaso, Silvia, Morgia, Alessandra, Martucci, Licia, Di Donato, Maddalena, Digilio, Maria Cristina, Dallapiccola, Bruno, Novelli, Antonio, Capolino, Rossella
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
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Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II
Nicita, Francesco, Sabatini, Letizia, Alesi, Viola, Lucignani, Giulia, Sallicandro, Ester, Sferra, Antonella, Bertini, Enrico, Zanni, Ginevra, Palumbo, Giuseppe
Published in Brain sciences (29.01.2022)
Published in Brain sciences (29.01.2022)
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Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene
Diociaiuti, Andrea, Angioni, Adriano, Pisaneschi, Elisa, Margollicci, Maria, Boldrini, Renata, Alesi, Viola, Novelli, Antonio, Zambruno, Giovanna, El Hachem, May
Published in Acta dermato-venereologica (01.07.2019)
Published in Acta dermato-venereologica (01.07.2019)
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Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
Travaglini, Lorena, Aiello, Chiara, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Tozzi, Giulia, Bertini, Enrico, Leuzzi, Vincenzo, Brancati, Francesco
Published in Brain & development (Tokyo. 1979) (01.02.2017)
Published in Brain & development (Tokyo. 1979) (01.02.2017)
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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients
Baban, Anwar, Alesi, Viola, Magliozzi, Monia, Parlapiano, Giovanni, Genovese, Silvia, Cicenia, Marianna, Loddo, Sara, Lodato, Valentina, Di Chiara, Luca, Fattori, Fabiana, D’Amico, Adele, Francalanci, Paola, Amodeo, Antonio, Novelli, Antonio, Drago, Fabrizio
Published in Journal of cardiovascular development and disease (30.09.2022)
Published in Journal of cardiovascular development and disease (30.09.2022)
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Reassessment of the 12q15 deletion syndrome critical region
Viola, Alesi, Sara, Loddo, Marta, Grispo, Simona, Riccio, Costantino, Montella Andrea, Bruno, Dallapiccola, Lucia, Ulgheri, Antonio, Novelli
Published in European journal of medical genetics (01.04.2017)
Published in European journal of medical genetics (01.04.2017)
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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
Calcagni, Giulio, Ferrigno, Federica, Franceschini, Alessio, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Minotti, Chiara, Micalizzi, Alessia, Alesi, Viola, Novelli, Antonio, Baban, Anwar, Parlapiano, Giovanni, Coviello, Domenico, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Drago, Fabrizio, Bartuli, Andrea, Marino, Bruno, Digilio, Maria Cristina
Published in Diagnostics (Basel) (01.03.2024)
Published in Diagnostics (Basel) (01.03.2024)
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First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
Baban, Anwar, Magliozzi, Monia, Loeys, Bart, Adorisio, Rachele, Alesi, Viola, Secinaro, Aurelio, Corica, Bernadette, Vricella, Luca, Dietz, Harry C, Drago, Fabrizio, Novelli, Antonio, Amodeo, Antonio
Published in BMC medical genetics (15.09.2018)
Published in BMC medical genetics (15.09.2018)
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1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
Lodato, Valentina, Orlando, Valeria, Alesi, Viola, Di Tommaso, Silvia, Bengala, Mario, Parlapiano, Giovanni, Agnolucci, Elisa, Cicenia, Marianna, Calì, Federica, Digilio, Maria Cristina, Drago, Fabrizio, Novelli, Antonio, Baban, Anwar
Published in Journal of cardiovascular development and disease (19.11.2021)
Published in Journal of cardiovascular development and disease (19.11.2021)
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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
Dentici, Maria Lisa, Bergonzini, Paola, Scibelli, Francesco, Caciolo, Cristina, De Rose, Paola, Cumbo, Francesca, Alesi, Viola, Capolino, Rossella, Zanni, Ginevra, Sinibaldi, Lorenzo, Novelli, Antonio, Tartaglia, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Vicari, Stefano, Alfieri, Paolo
Published in Brain sciences (01.11.2020)
Published in Brain sciences (01.11.2020)
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