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2. Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7

Author

Villa, Nicoletta, primary, Redaelli, Serena, additional, Farina, Stefania, additional, Conconi, Donatella, additional, Sala, Elena Maria, additional, Crosti, Francesca, additional, Mariani, Silvana, additional, Colombo, Carla Maria, additional, Dalprà, Leda, additional, Lavitrano, Marialuisa, additional, Bentivegna, Angela, additional, and Roversi, Gaia, additional

Published
2023
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3. Systematic Review and Meta-Analysis of Oral Anticoagulant Therapy in Atrial Fibrillation Cancer Patients

Author

Cereda, Alberto, primary, Lucreziotti, Stefano, additional, Franchina, Antonio Gabriele, additional, Laricchia, Alessandra, additional, De Regibus, Valentina, additional, Conconi, Barbara, additional, Carlà, Matteo, additional, Spangaro, Andrea, additional, Rocchetti, Matteo, additional, Ponti, Luca, additional, Minardi, Alessandro, additional, Sala, Elena, additional, Sangiorgi, Giuseppe Massimo, additional, Tumminello, Gabriele, additional, Barbieri, Lucia, additional, Carugo, Stefano, additional, and Aseni, Paolo, additional

Published
2023
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4. Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region

Author

Redaelli, Serena, primary, Conconi, Donatella, additional, Sala, Elena, additional, Villa, Nicoletta, additional, Crosti, Francesca, additional, Roversi, Gaia, additional, Catusi, Ilaria, additional, Valtorta, Chiara, additional, Recalcati, Maria Paola, additional, Dalprà, Leda, additional, Lavitrano, Marialuisa, additional, and Bentivegna, Angela, additional

Published
2022
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5. Human Chromosome 18 and Acrocentrics: A Dangerous Liaison

Author

Villa, Nicoletta, primary, Redaelli, Serena, additional, Sala, Elena, additional, Conconi, Donatella, additional, Romitti, Lorenza, additional, Manfredini, Emanuela, additional, Crosti, Francesca, additional, Roversi, Gaia, additional, Lavitrano, Marialuisa, additional, Rodeschini, Ornella, additional, Recalcati, Maria Paola, additional, Piazza, Rocco, additional, Dalprà, Leda, additional, Riva, Paola, additional, and Bentivegna, Angela, additional

Published
2021
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6. Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas

Author

Conconi, Donatella, primary, Redaelli, Serena, additional, Lissoni, Andrea, additional, Cilibrasi, Chiara, additional, Perego, Patrizia, additional, Gautiero, Eugenio, additional, Sala, Elena, additional, Paderno, Mariachiara, additional, Dalprà, Leda, additional, Landoni, Fabio, additional, Lavitrano, Marialuisa, additional, Roversi, Gaia, additional, and Bentivegna, Angela, additional

Published
2021
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7. Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

Author

Redaelli, Serena, primary, Conconi, Donatella, additional, Villa, Nicoletta, additional, Sala, Elena, additional, Crosti, Francesca, additional, Corti, Cecilia, additional, Catusi, Ilaria, additional, Garzo, Maria, additional, Romitti, Lorenza, additional, Martinoli, Emanuela, additional, Patrizi, Antonella, additional, Malgara, Roberta, additional, Recalcati, Maria Paola, additional, Dalprà, Leda, additional, Lavitrano, Marialuisa, additional, Riva, Paola, additional, Roversi, Gaia, additional, and Bentivegna, Angela, additional

Published
2020
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8. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

Author

Redaelli, Serena, primary, Maitz, Silvia, additional, Crosti, Francesca, additional, Sala, Elena, additional, Villa, Nicoletta, additional, Spaccini, Luigina, additional, Selicorni, Angelo, additional, Rigoldi, Miriam, additional, Conconi, Donatella, additional, Dalprà, Leda, additional, Roversi, Gaia, additional, and Bentivegna, Angela, additional

Published
2019
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10. Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.

Author

Villa N, Redaelli S, Farina S, Sala E, Crosti F, Cozzolino S, Verderio M, Dalprà L, Roversi G, Bentivegna A, Cazzaniga G, Lavitrano M, and Conconi D

Abstract

When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk ( PEX3 deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype.

Published
2024
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