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8 results on '"Bizzarri, Veronica"'

1. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

Author

Maini, Ilenia, Errichiello, Edoardo, Caraffi, Stefano Giuseppe, Rosato, Simonetta, Bizzarri, Veronica, Pollazzon, Marzia, Trimarchi, Gabriele, Contrò, Gianluca, Cavirani, Benedetta, Gelmini, Chiara, Napoli, Manuela, Moratti, Claudio, Pascarella, Rosario, Rizzi, Susanna, Fusco, Carlo, Zuffardi, Orsetta, and Garavelli, Livia

Published
2021
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2. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.

Author

Bonasoni, Maria Paola, Comitini, Giuseppina, Pati, Mariangela, Bizzarri, Veronica, Barbieri, Veronica, Marinelli, Maria, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Pollazzon, Marzia, Palicelli, Andrea, and Garavelli, Livia

Subjects
PERIPHERAL nervous system, CLEFT lip, CLEFT palate, CENTRAL nervous system, COMPARATIVE genomic hybridization, ESOPHAGEAL motility
Abstract

Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation. Histologically, the left lung showed congenital pulmonary airway malformation (CPAM) type 2. Retinal dysplasia was found in both eyes. Discussion/Conclusion: The human SOX2 gene (OMIM #184429) is located on chromosome 3 at position q26.3–27 and encodes a transcription factor involved in the development of the central and peripheral nervous systems, retina, and lung. In our case, the combination of cerebral, retinal, and pulmonary anomalies, not previously described, are consistent with SOX2 haploinsufficiency due to chromosomal deletion. [ABSTRACT FROM AUTHOR]

Published
2023
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3. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

Author

Maini, Ilenia, primary, Errichiello, Edoardo, additional, Caraffi, Stefano Giuseppe, additional, Rosato, Simonetta, additional, Bizzarri, Veronica, additional, Pollazzon, Marzia, additional, Trimarchi, Gabriele, additional, Contrò, Gianluca, additional, Cavirani, Benedetta, additional, Gelmini, Chiara, additional, Napoli, Manuela, additional, Moratti, Claudio, additional, Pascarella, Rosario, additional, Rizzi, Susanna, additional, Fusco, Carlo, additional, Zuffardi, Orsetta, additional, and Garavelli, Livia, additional

Published
2020
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5. A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

Author

Caterina Lo Rizzo, Elisa Frullanti, Margherita Baldassarri, Lucia Radice, Roberto Canitano, Chiara Di Marco, Bizzarri Veronica, Sabrina Buoni, Ilaria Meloni, Maria Antonietta Mencarelli, Mucciolo Mafalda, Francesca Mari, Sonia Amabile, Aless, ra Renieri, and Joussef Hayek

Subjects
0301 basic medicine, Genetics, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Biology, medicine.disease, Genome, 030227 psychiatry, 03 medical and health sciences, 0302 clinical medicine, Unknown Significance, Autism spectrum disorder, mental disorders, Intellectual disability, medicine, Autism, Copy-number variation, Comparative genomic hybridization
Abstract

Background: Autism Spectrum Disorders (ASD) and Intellectual Disability (ID) represent lifelong conditions with severe impact on behavior and lifestyle of patients and their families. Array comparative genomic hybridization (array-CGH) has clarified the underlying genetic causes of ASD and ID by CNVs identification in several chromosomal regions with susceptibility to different levels of severity of ASD or ID in up to 1% of patients. Methods: Using oligo array-CGH we analyzed 476 unrelated subjects with ASD or ID, thoroughly investigated by both child neuropsychiatrists and clinical geneticists. The inheritance of the CNV were tested in the majority of cases (82% of positive cases). Results: A total of 198 rearrangements was identified in 154 cases. CNVs were classified in three groups: i- CNVs previously known to be associated with ASD or ID (28/198, 14%), including 16p11.2, 15q13.3, 17p12 and 17q12; ii- CNVs including genes known to be associated with either ASD or ID (9/198, 4.5%); iii- CNVs of unknown significance (161/198, 81.3%). Conclusions: Our study confirmed that array-CGH analysis is able to detect the underlying genetic cause in about 18% of ASD or ID patients, highlighting it as an essential diagnostic tool for patients assessment. Overall, a prevalence of duplications with respect to deletions was observed (62% and 38% respectively) but among the deleted cases an enrichment of microdeletions in ASD cases (p=0.03) is present. Furthermore, we shown a prevalence of multiple CNVs in ASD cases compared to ID (p=0.05), pointing out the complex nature of ASD.

Published
2016

6. Dropped-head in recessive oculopharyngeal muscular dystrophy

Author

Garibaldi, Matteo, primary, Pennisi, Elena Maria, additional, Bruttini, Mirella, additional, Bizzarri, Veronica, additional, Bucci, Elisabetta, additional, Morino, Stefania, additional, Talerico, Caterina, additional, Stoppacciaro, Antonella, additional, Renieri, Alessandra, additional, and Antonini, Giovanni, additional

Published
2015
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7. Recurrent duplications of 17q12 associated with variable phenotypes

Author

Mitchell, Elyse, primary, Douglas, Andrew, additional, Kjaegaard, Susanne, additional, Callewaert, Bert, additional, Vanlander, Arnaud, additional, Janssens, Sandra, additional, Yuen, Amy Lawson, additional, Skinner, Cindy, additional, Failla, Pinella, additional, Alberti, Antonino, additional, Avola, Emanuela, additional, Fichera, Marco, additional, Kibaek, Maria, additional, Digilio, Maria C., additional, Hannibal, Mark C., additional, den Hollander, Nicolette S., additional, Bizzarri, Veronica, additional, Renieri, Alessandra, additional, Mencarelli, Maria Antonietta, additional, Fitzgerald, Tomas, additional, Piazzolla, Serena, additional, van Oudenhove, Elke, additional, Romano, Corrado, additional, Schwartz, Charles, additional, Eichler, Evan E., additional, Slavotinek, Anne, additional, Escobar, Luis, additional, Rajan, Diana, additional, Crolla, John, additional, Carter, Nigel, additional, Hodge, Jennelle C., additional, and Mefford, Heather C., additional

Published
2015
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8. Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

Author

Grillo, Elisa, primary, Lo Rizzo, Caterina, additional, Bianciardi, Laura, additional, Bizzarri, Veronica, additional, Baldassarri, Margherita, additional, Spiga, Ottavia, additional, Furini, Simone, additional, De Felice, Claudio, additional, Signorini, Cinzia, additional, Leoncini, Silvia, additional, Pecorelli, Alessandra, additional, Ciccoli, Lucia, additional, Mencarelli, Maria Antonietta, additional, Hayek, Joussef, additional, Meloni, Ilaria, additional, Ariani, Francesca, additional, Mari, Francesca, additional, and Renieri, Alessandra, additional

Published
2013
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