249 results on '"Roversi, Gaia"'
Search Results
2. Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.
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Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Sala, Elena, Crosti, Francesca, Cozzolino, Sabrina, Verderio, Maria, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela, Cazzaniga, Giovanni, Lavitrano, Marialuisa, and Conconi, Donatella
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FIRST trimester of pregnancy ,CHROMOSOMAL translocation ,PRENATAL diagnosis ,GENOMICS ,DOWN syndrome - 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. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
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Redaelli, S, Grati, F, Tritto, V, Giannuzzi, G, Recalcati, M, Sala, E, Villa, N, Crosti, F, Roversi, G, Malvestiti, F, Zanatta, V, Repetti, E, Rodeschini, O, Valtorta, C, Catusi, I, Romitti, L, Martinoli, E, Conconi, D, Dalprà, L, Lavitrano, M, Riva, P, Bentivegna, A, Redaelli, Serena, Grati, Francesca Romana, Tritto, Viviana, Giannuzzi, Giuliana, Recalcati, Maria Paola, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Malvestiti, Francesca, Zanatta, Valentina, Repetti, Elena, Rodeschini, Ornella, Valtorta, Chiara, Catusi, Ilaria, Romitti, Lorenza, Martinoli, Emanuela, Conconi, Donatella, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Bentivegna, Angela, Redaelli, S, Grati, F, Tritto, V, Giannuzzi, G, Recalcati, M, Sala, E, Villa, N, Crosti, F, Roversi, G, Malvestiti, F, Zanatta, V, Repetti, E, Rodeschini, O, Valtorta, C, Catusi, I, Romitti, L, Martinoli, E, Conconi, D, Dalprà, L, Lavitrano, M, Riva, P, Bentivegna, A, Redaelli, Serena, Grati, Francesca Romana, Tritto, Viviana, Giannuzzi, Giuliana, Recalcati, Maria Paola, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Malvestiti, Francesca, Zanatta, Valentina, Repetti, Elena, Rodeschini, Ornella, Valtorta, Chiara, Catusi, Ilaria, Romitti, Lorenza, Martinoli, Emanuela, Conconi, Donatella, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, and Bentivegna, Angela
- Abstract
The largest multi-gene family in metazoans is the family of olfactory receptor (OR) genes. Human ORs are organized in clusters over most chromosomes and seem to include >0.1% the human genome. Because 369 out of 856 OR genes are mapped on chromosome 11 (HSA11), we sought to determine whether they mediate structural rearrangements involving this chromosome. To this aim, we analyzed 220 specimens collected during diagnostic procedures involving structural rearrangements of chromosome 11. A total of 222 chromosomal abnormalities were included, consisting of inversions, deletions, translocations, duplications, and one insertion, detected by conventional chromosome analysis and/or fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array-CGH). We verified by bioinformatics and statistical approaches the occurrence of breakpoints in cytobands with or without OR genes. We found that OR genes are not involved in chromosome 11 reciprocal translocations, suggesting that different DNA motifs and mechanisms based on homology or non-homology recombination can cause chromosome 11 structural alterations. We also considered the proximity between the chromosomal territories of chromosome 11 and its partner chromosomes involved in the translocations by using the deposited Hi-C data concerning the possible occurrence of chromosome interactions. Interestingly, most of the breakpoints are located in regions highly involved in chromosome interactions. Further studies should be carried out to confirm the potential role of chromosome territories’ proximity in promoting genome structural variation, so fundamental in our understanding of the molecular basis of medical genetics and evolutionary genetics.
- Published
- 2024
4. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
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Kuchenbaecker, Karoline B, Neuhausen, Susan L, Robson, Mark, Barrowdale, Daniel, McGuffog, Lesley, Mulligan, Anna Marie, Andrulis, Irene L, Spurdle, Amanda B, Schmidt, Marjanka K, Schmutzler, Rita K, Engel, Christoph, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa, Radice, Paolo, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Lee, Andrew, Healey, Sue, Nussbaum, Robert L, Rebbeck, Timothy R, Arun, Banu K, James, Paul, Karlan, Beth Y, Lester, Jenny, Cass, Ilana, Breast Cancer Family Registry, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, v O Hansen, Thomas, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Dennis, Joe, Cunningham, Julie, Hart, Steven, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Tafur, Isaac, Hander, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo, Varesco, Liliana, Papi, Laura, Tibiletti, Maria Grazia, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, EMBRACE Study, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K, Rhiem, Kerstin, Meindl, Alfons, and Ditsch, Nina
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Breast Cancer Family Registry ,EMBRACE Study ,GEMO Study Collaborators ,HEBON ,KConFab Investigators ,CIMBA ,Humans ,Carcinoma ,Carcinoma ,Ductal ,Breast ,Carcinoma ,Lobular ,Breast Neoplasms ,Genetic Predisposition to Disease ,Receptor ,erbB-2 ,Receptors ,Estrogen ,Receptors ,Progesterone ,Neoplasm Staging ,Heterozygote ,Alleles ,Genes ,BRCA1 ,Genes ,BRCA2 ,Adult ,Aged ,Middle Aged ,Female ,Neoplasm Grading ,Receptor ,ErbB-2 ,Ductal ,Breast ,Lobular ,Receptor ,erbB-2 ,Receptors ,Estrogen ,Progesterone ,Genes ,BRCA1 ,BRCA2 ,ErbB-2 ,Prevention ,Breast Cancer ,Clinical Research ,Genetics ,Cancer ,2.1 Biological and endogenous factors ,Oncology & Carcinogenesis ,Oncology and Carcinogenesis - Abstract
IntroductionMore than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers.MethodsWe used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.ResultsThe estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for BRCA1 and BRCA2 carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at P
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- 2014
5. Tubal histopathological abnormalities in BRCA1/2 mutation carriers undergoing prophylactic salpingo-oophorectomy: a case-control study
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Sina, Federica, Cassani, Chiara, Comerio, Chiara, De Ponti, Elena, Zanellini, Francesca, Delle Marchette, Martina, Roversi, Gaia, Jaconi, Marta, Arbustini, Eloisa, Urtis, Mario, DellʼOro, Cristina, Zambetti, Benedetta, Paniga, Cristiana, Acampora, Eleonora, Negri, Serena, Lazzarin, Sara, Cesari, Stefania, Spinillo, Arsenio, Kotsopoulos, Joanne, and Fruscio, Robert
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- 2022
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6. Molecular signatures of medullary thyroid carcinoma by matrix-assisted laser desorption/ionisation mass spectrometry imaging
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Smith, Andrew, Galli, Manuel, Piga, Isabella, Denti, Vanna, Stella, Martina, Chinello, Clizia, Fusco, Nicola, Leni, Davide, Manzoni, Marco, Roversi, Gaia, Garancini, Mattia, Pincelli, Angela Ida, Cimino, Vincenzo, Capitoli, Giulia, Magni, Fulvio, and Pagni, Fabio
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- 2019
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7. Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7
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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
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- 2023
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8. Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy
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Giambra, Martina, primary, Di Cristofori, Andrea, additional, Conconi, Donatella, additional, Marzorati, Matilde, additional, Redaelli, Serena, additional, Zambuto, Melissa, additional, Rocca, Alessandra, additional, Roumy, Louis, additional, Carrabba, Giorgio, additional, Lavitrano, Marialuisa, additional, Roversi, Gaia, additional, Giussani, Carlo, additional, and Bentivegna, Angela, additional
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- 2023
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9. Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy
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Negri, Serena, primary, De Ponti, Elena, additional, Sina, Federica Paola, additional, Sala, Elena, additional, Dell'Oro, Cristina, additional, Roversi, Gaia, additional, Lazzarin, Sara, additional, Delle Marchette, Martina, additional, Inzoli, Alesssandra, additional, Toso, Claudia, additional, Fumagalli, Simona, additional, Campanella, Maria, additional, Kotsopoulos, Joanne, additional, and Fruscio, Robert, additional
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- 2022
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10. 2022-RA-1020-ESGO Family history in BRCA mutation carriers affected by breast and ovarian cancer and its role in identifying subjects at high risk
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Negri, Serena, primary, de Ponti, Elena, additional, Sina, Federica Paola, additional, Sala, Elena, additional, Dell’Oro, Cristina, additional, Roversi, Gaia, additional, Lazzarin, Sara, additional, Marchette, Martina Delle, additional, Inzoli, Alessandra, additional, Toso, Claudia, additional, Fumagalli, Simona, additional, Campanella, Ornella, additional, Kotsopoulos, Joanne, additional, and Fruscio, Robert, additional
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- 2022
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11. Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases
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Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, and Roversi, Gaia
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- 2018
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12. Tubal histopathological abnormalities in BRCA1/2 mutation carriers undergoing prophylactic salpingo-oophorectomy: a case-control study
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Sina, F, Cassani, C, Comerio, C, De Ponti, E, Zanellini, F, Delle Marchette, M, Roversi, G, Jaconi, M, Arbustini, E, Urtis, M, Dell'Oro, C, Zambetti, B, Paniga, C, Acampora, E, Negri, S, Lazzarin, S, Cesari, S, Spinillo, A, Kotsopoulos, J, Fruscio, R, Sina, Federica, Cassani, Chiara, Comerio, Chiara, De Ponti, Elena, Zanellini, Francesca, Delle Marchette, Martina, Roversi, Gaia, Jaconi, Marta, Arbustini, Eloisa, Urtis, Mario, Dell'Oro, Cristina, Zambetti, Benedetta, Paniga, Cristiana, Acampora, Eleonora, Negri, Serena, Lazzarin, Sara, Cesari, Stefania, Spinillo, Arsenio, Kotsopoulos, Joanne, Fruscio, Robert, Sina, F, Cassani, C, Comerio, C, De Ponti, E, Zanellini, F, Delle Marchette, M, Roversi, G, Jaconi, M, Arbustini, E, Urtis, M, Dell'Oro, C, Zambetti, B, Paniga, C, Acampora, E, Negri, S, Lazzarin, S, Cesari, S, Spinillo, A, Kotsopoulos, J, Fruscio, R, Sina, Federica, Cassani, Chiara, Comerio, Chiara, De Ponti, Elena, Zanellini, Francesca, Delle Marchette, Martina, Roversi, Gaia, Jaconi, Marta, Arbustini, Eloisa, Urtis, Mario, Dell'Oro, Cristina, Zambetti, Benedetta, Paniga, Cristiana, Acampora, Eleonora, Negri, Serena, Lazzarin, Sara, Cesari, Stefania, Spinillo, Arsenio, Kotsopoulos, Joanne, and Fruscio, Robert
- Abstract
OBJECTIVE: To describe tubal histopathological abnormalities in women with germline BRCA1/2 mutations and in controls. METHODS: Consecutive women with BRCA1/2 mutations undergoing bilateral salpingo-oophorectomy between 2010 and 2020 in two centers (San Gerardo Hospital, Monza and San Matteo Hospital, Pavia) were considered in this analysis and compared with controls who had the same surgical procedure for benign conditions. Frequency of p53 signature, serous tubal intraepithelial carcinoma, and high-grade serous ovarian cancer were compared between the two groups. RESULTS: A total of 194 women with pathogenic BRCA1/2 mutations underwent prophylactic salpingo-oophorectomy. Of these, 138 women (71%) had a completely negative histological examination, while in 56 (29%) patients an ovarian or tubal alteration was reported. Among controls, 84% of patients had a p53wt signature, while 16% had a p53 signature. There was no difference in the frequency of a p53 signature between cases and controls; however, women with BRCA1/2 mutations were more likely to have pre-malignant or invasive alterations of tubal or ovarian epithelium (p=0.015). Among mutation carriers, older age both at genetic testing and at surgery was associated with an increased risk of having malignancies (OR=1.07, p=0.006 and OR=1.08, p=0.004, respectively). The risk of malignancy seems to be increased in patients with a familial history of high-grade serous ovarian cancer. Previous therapy with tamoxifen was significantly more frequent in patients with malignant lesions (40.0% vs 21.3%, p=0.006). CONCLUSION: We found that a p53 signature is a frequent finding both in BRCA1/2 mutation carriers and in controls, while pre-invasive and invasive lesions are more frequent in BRCA1/2 mutation carriers. Genetic and clinical characteristics are likely to affect the progression to malignancy.
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- 2022
13. Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region
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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
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- 2022
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14. Tubal histopathological abnormalities in BRCA1/2 mutation carriers undergoing prophylactic salpingo-oophorectomy: a case–control study
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Sina, Federica, primary, Cassani, Chiara, additional, Comerio, Chiara, additional, De Ponti, Elena, additional, Zanellini, Francesca, additional, Delle Marchette, Martina, additional, Roversi, Gaia, additional, Jaconi, Marta, additional, Arbustini, Eloisa, additional, Urtis, Mario, additional, Dell’Oro, Cristina, additional, Zambetti, Benedetta, additional, Paniga, Cristiana, additional, Acampora, Eleonora, additional, Negri, Serena, additional, Lazzarin, Sara, additional, Cesari, Stefania, additional, Spinillo, Arsenio, additional, Kotsopoulos, Joanne, additional, and Fruscio, Robert, additional
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- 2021
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15. Solid cell nests of the thyroid gland: morphological, immunohistochemical and genetic features
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Manzoni, Marco, Roversi, Gaia, Di Bella, Camillo, Pincelli, Angela I, Cimino, Vincenzo, Perotti, Mario, Garancini, Mattia, and Pagni, Fabio
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- 2016
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16. A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project
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La Verde, Nicla, Corsi, Fabio, Moretti, Anna, Peissel, Bernard, Dalu, Davide, Girelli, Serena, Fasola, Cinzia, Gambaro, Anna, Roversi, Gaia, Azzollini, Jacopo, Radice, Paolo, Pensotti, Valeria, Farina, Gabriella, and Manoukian, Siranoush
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- 2016
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17. An Alternative Approach in Endocrine Pathology Research: MALDI-IMS in Papillary Thyroid Carcinoma
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Mainini, Veronica, Pagni, Fabio, Garancini, Mattia, Giardini, Vittorio, De Sio, Gabriele, Cusi, Carlo, Arosio, Cristina, Roversi, Gaia, Chinello, Clizia, Caria, Paola, Vanni, Roberta, and Magni, Fulvio
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- 2013
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18. Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34 +38 − compartment
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Pedranzini, Laura, Mottadelli, Federica, Ronzoni, Simona, Rossella, Franca, Ferracin, Manuela, Magnani, Ivana, Roversi, Gaia, Colapietro, Patrizia, Negrini, Massimo, Pelicci, Pier Giuseppe, and Larizza, Lidia
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- 2010
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19. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
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Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, DallʼOlio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., and Radice, Paolo
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- 2015
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20. Human Chromosome 18 and Acrocentrics: A Dangerous Liaison
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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
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- 2021
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21. Etude du mobilier céramique
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Roversi, Gaia
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Anfore ,Ceramica ,Parcellizazione agraria ,Fossati, Ceramica ,Ceramica romana ,Fossati ,Fossati, Parcellizazione agraria, Ceramica romana, Anfore - Published
- 2021
22. Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations
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Manoukian, Siranoush, Peissel, Bernard, Frigerio, Simona, Lecis, Daniele, Bartkova, Jirina, Roversi, Gaia, Radice, Paolo, Bartek, Jiri, and Delia, Domenico
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- 2011
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23. Evidence for a link between TNFRSF11A and risk of breast cancer
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Bonifaci, Núria, Palafox, Marta, Pellegrini, Pasquale, Osorio, Ana, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Mariette, Frederique, Bernard, Loris, Radice, Paolo, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Sáez, María E., Climent, Fina, Soler, María Teresa, Diez, Orland, Balmaña, Judith, Lasa, Adriana, Ramón y Cajal, Teresa, Miramar, María-Dolores, de la Hoya, Miguel, Pérez-Segura, Pedro, Caldés, Trinidad, Moreno, Víctor, Urruticoechea, Ander, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Pujana, Miguel Angel, and González-Suárez, Eva
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- 2011
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24. The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers
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Catucci, Irene, Verderio, Paolo, Pizzamiglio, Sara, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Ripamonti, Carla B., Pasini, Barbara, Barile, Monica, Viel, Alessandra, Giannini, Giuseppe, Papi, Laura, Varesco, Liliana, Martayan, Aline, Riboni, Mirko, Volorio, Sara, Radice, Paolo, and Peterlongo, Paolo
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- 2011
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25. Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene
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Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., and Larizza, Lidia
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Chromosome mapping -- Usage ,Gene mutations -- Analysis ,Italians -- Genetic aspects ,Neutropenia -- Genetic aspects ,Neutropenia -- Diagnosis ,Neutropenia -- Care and treatment ,Biological sciences - Abstract
A study uses targeted next-generation sequencing and autozygosity mapping on an inbred Italian family to identify the disease genes in members affected with the rare autosomal-recessive genodermatosis Clericuzio-type poikiloderma with neutropenia (PN). Findings reveal that two deleterious mutations in the C16orf57 gene are associated with PN in the affected individuals.
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- 2010
26. Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
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Sznajer, Yves, Siitonen, H. Annika, Roversi, Gaia, Dangoisse, Chantal, Scaillon, Michèle, Ziereisen, France, Tenoutasse, Sylvie, Kestilä, Marjo, and Larizza, Lidia
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- 2008
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27. Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas
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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
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- 2021
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28. Additional file 8 of Exploring the link between MORF4L1 and risk of breast cancer
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Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Abstract
Additional file 8: Co-AP assays involving MRG15 and MRGX. Supplementary Figure 4 containing results of co-AP assays involving MRG15 and MRGX. (PDF 1 MB)
- Published
- 2020
- Full Text
- View/download PDF
29. Additional file 7 of Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Subjects
ComputingMethodologies_PATTERNRECOGNITION ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Hardware_INTEGRATEDCIRCUITS ,Hardware_REGISTER-TRANSFER-LEVELIMPLEMENTATION - Abstract
Additional file 7: Co-AP and co-IP assays. Supplementary Figure 3 containing results of the co-AP and co-IP assays. (PDF 3 MB)
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- 2020
- Full Text
- View/download PDF
30. Additional file 16 of Exploring the link between MORF4L1 and risk of breast cancer
- Author
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Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Subjects
Data_FILES - Abstract
Authors’ original file for figure 2
- Published
- 2020
- Full Text
- View/download PDF
31. Additional file 5 of Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Subjects
fungi - Abstract
Additional file 5: Gene co-expression. Supplementary Figure 1 containing results of the gene co-expression analysis. (PDF 638 KB)
- Published
- 2020
- Full Text
- View/download PDF
32. Additional file 9 of Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,hemic and lymphatic diseases ,nutritional and metabolic diseases - Abstract
Additional file 9: siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. Supplementary Figure 5 containing results of siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. (PDF 1 MB)
- Published
- 2020
- Full Text
- View/download PDF
33. Les amphores régionales en Auvergne (Puy-de-Dome, Allier, Haute-Loire) : typologie et diffusion
- Author
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Roversi, Gaia
- Subjects
Anfore regionali ,Flussi commerciali ,Auvergne, Anfore regionali, Flussi commerciali ,Auvergne - Published
- 2020
34. I materiali
- Author
-
Roversi, Gaia
- Subjects
Marche ,Urbanistica antica ,Ostra, Marche, Urbanistica antica ,Ostra - Published
- 2020
35. Additional file of Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Subjects
skin and connective tissue diseases - Abstract
Additional file of Exploring the link between MORF4L1 and risk of breast cancer
- Published
- 2020
- Full Text
- View/download PDF
36. Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
- Author
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Roversi, Gaia, primary, Colombo, Elisa Adele, additional, Magnani, Ivana, additional, Gervasini, Cristina, additional, Maggiore, Giuseppe, additional, Paradisi, Mauro, additional, and Larizza, Lidia, additional
- Published
- 2021
- Full Text
- View/download PDF
37. The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
- Author
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Beghini, Alessandro, Magnani, Ivana, Roversi, Gaia, Piepoli, Tiziana, Terlizzi, Simona Di, Moroni, Ramona F, Pollo, Bianca, Fuhrman Conti, Anna M, Cowell, John K, Finocchiaro, Gaetano, and Larizza, Lidia
- Published
- 2003
- Full Text
- View/download PDF
38. Rothmund–Thomson syndrome and RECQL4 defect: Splitting and lumping
- Author
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Larizza, Lidia, Magnani, Ivana, and Roversi, Gaia
- Published
- 2006
- Full Text
- View/download PDF
39. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers
- Author
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Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L., Ding, Yuan Chun, Nathanson, Katherine L., Domchek, Susan M., Jakubowska, Anna, Lubiński, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Osorio, Ana, Durán, Mercedes, Tejada, Maria-Isabel, Benítez, Javier, Hamann, Ute, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Asperen, Christi J., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M., Evans, D. Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Kennedy, M. John, Rogers, Mark T., Side, Lucy E., Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valérie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnès, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, Buys, Saundra S., Hopper, John L., Daly, Mary B., John, Esther M., Terry, Mary Beth, Goldgar, David, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A., Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V. C., Przybylo, Jennifer A., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Janavicius, Ramunas, Blanco, Ignacio, Lázaro, Conxi, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Beattie, Mary S., Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Simard, Jacques, Soucy, Penny, Spurdle, Amanda B., Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F., and Antoniou, Antonis C.
- Published
- 2011
- Full Text
- View/download PDF
40. Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
- Author
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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
- Full Text
- View/download PDF
41. Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
- Author
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Magnani, Ivana, Ramona, Ramona Frida, Roversi, Gaia, Beghini, Alessandro, Pfundt, Rolph, Schoenmakers, Eric F., and Larizza, Lidia
- Published
- 2005
- Full Text
- View/download PDF
42. Il sistema fognario della città romana di Ostra (Ostra Vetere, An)
- Author
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Franceschelli, Carlotta, Dall’Aglio, Pier Luigi, Roversi, Gaia, Nesci, Olivia, Pellegrini, Luisa, Savelli, Daniele, Centre d'Histoire 'Espaces et Cultures' (CHEC), Université Clermont Auvergne (UCA), Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Università degli Studi di Urbino 'Carlo Bo', and Università degli Studi di Pavia = University of Pavia (UNIPV)
- Subjects
[SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory - Abstract
International audience
- Published
- 2019
43. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16
- Author
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Redaelli, S, Maitz, S, Crosti, F, Sala, E, Villa, N, Spaccini, L, Selicorni, A, Rigoldi, M, Conconi, D, Dalprà, L, Roversi, G, Bentivegna, A, Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela, Redaelli, S, Maitz, S, Crosti, F, Sala, E, Villa, N, Spaccini, L, Selicorni, A, Rigoldi, M, Conconi, D, Dalprà, L, Roversi, G, Bentivegna, A, Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, and Bentivegna, Angela
- Abstract
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at 16p13.11 was found in seven patients; one at 16p12.2 was found in four patients; two close SROs at 16p11.2 were found in twelve patients; finally, six patients were found with atypical rearrangements. Although phenotypic variability was observed, we identified a male bias for Childhood Apraxia of Speech associated to 16p11.2 microdeletions. We also reported an elevated frequency of second-site genomic alterations, supporting the model of the second hit to explain the clinical variability associated with CNV syndromes. Our goal was to contribute to the building of a chromosome 16 disease-map based on disease susceptibility regions. The role of the CNVs of chromosome 16 was increasingly made clear in the determination of developmental delay. We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect.
- Published
- 2019
44. Molecular signatures of medullary thyroid carcinoma by matrix-assisted laser desorption/ionisation mass spectrometry imaging
- Author
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Smith, A, Galli, M, Piga, I, Denti, V, Stella, M, Chinello, C, Fusco, N, Leni, D, Manzoni, M, Roversi, G, Garancini, M, Pincelli, A, Cimino, V, Capitoli, G, Magni, F, Pagni, F, Smith, Andrew, Galli, Manuel, Piga, Isabella, Denti, Vanna, Stella, Martina, Chinello, Clizia, Fusco, Nicola, Leni, Davide, Manzoni, Marco, Roversi, Gaia, Garancini, Mattia, Pincelli, Angela Ida, Cimino, Vincenzo, Capitoli, Giulia, Magni, Fulvio, Pagni, Fabio, Smith, A, Galli, M, Piga, I, Denti, V, Stella, M, Chinello, C, Fusco, N, Leni, D, Manzoni, M, Roversi, G, Garancini, M, Pincelli, A, Cimino, V, Capitoli, G, Magni, F, Pagni, F, Smith, Andrew, Galli, Manuel, Piga, Isabella, Denti, Vanna, Stella, Martina, Chinello, Clizia, Fusco, Nicola, Leni, Davide, Manzoni, Marco, Roversi, Gaia, Garancini, Mattia, Pincelli, Angela Ida, Cimino, Vincenzo, Capitoli, Giulia, Magni, Fulvio, and Pagni, Fabio
- Abstract
The main aim of the study was to assess the feasibility of matrix-assisted laser desorption/ionisation mass spectrometry imaging (MALDI-MSI) in the pathological investigation of Medullary Thyroid Carcinoma (MTC). Formalin-fixed paraffin-embedded (FFPE) samples from seven MTC patients were analysed by MALDI-MSI in order to detect proteomic alterations within tumour lesions and to define the molecular profiles of specific findings, such as amyloid deposition and C cell hyperplasia (CCH). nLC-ESI MS/MS was employed for the identification of amyloid components and to select alternative proteomic markers of MTC pathogenesis. Results highlighted the potential of MALDI-MSI to confirm the classic immunohistochemical methods employed for the diagnosis of MTC, with good sensitivity and specificity. Intratumoural amyloid components were also detected and identified, and were characterised by calcitonin, apolipoprotein E, apolipoprotein IV, and vitronectin. The tryptic peptide profiles representative of MTC and CCH were distinctly different, with four alternative markers for MTC being detected; K1C18, and three histones (H2A, H3C, and H4). Finally, a further 115 proteins were identified through the nLC-ESI-MS/MS analysis alone, with moesin, veriscan, and lumican being selected due to their potential involvement in MTC pathogenesis. This approach represents a complimentary strategy that could be employed to detect new proteomic markers of MTC. Statement of significance: Medullary thyroid carcinoma (MTC) is a rare endocrine malignancy that originates from the parafollicular C-cells of the thyroid. The diagnosis is typically established using a combination of fine-needle aspiration biopsy (FNAB) of a suspicious nodule along with the demonstrable elevation of serum biomarkers, such as calcitonin and carcinoembryonic antigen (CEA). Unfortunately, this combination is often associated with a high degree of false-positive results and this can lead to misdiagnosis and avoidable total th
- Published
- 2019
45. Exploring the link between MORF4L1 and risk of breast cancer
- Author
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Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel
- Published
- 2011
- Full Text
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46. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa
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Beghini, Alessandro, Tibiletti, MariaGrazia, Roversi, Gaia, Chiaravalli, AnnaMaria, Serio, Giovanni, Capella, Carlo, and Larizza, Lidia
- Subjects
Pigmentation disorders -- Genetic aspects ,Gastrointestinal cancer -- Genetic aspects ,Gene mutations -- Health aspects ,Health - Published
- 2001
47. [1] Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa
- Author
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Beghini, Alessandro, Tibiletti, MariaGrazia, Roversi, Gaia, Chiaravalli, AnnaMaria, Serio, Giovanni, Capella, Carlo, and Larizza, Lidia
- Subjects
Gastrointestinal cancer -- Genetic aspects ,Pigmentation disorders -- Genetic aspects ,Proto-oncogenes -- Health aspects ,Health - Published
- 2001
48. Review of: Carlotta Franceschelli, Pier Luigi Dall’Aglio, Laurent Lamoine (eds). 2017. 'Spazi pubblici e dimensione politica nella città romana: funzioni, strutture, utilizzazione'. Bologna: Bononia University Press
- Author
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Roversi, Gaia
- Subjects
INTERNATIONAL WORKSHOP ,BOOK REVIEW ,URBAN PLANNING ,PUBLIC SPACES ,ROMAN CITY - Published
- 2018
49. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16
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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
- Full Text
- View/download PDF
50. Rothmund-Thomson syndrome
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Roversi Gaia, Larizza Lidia, and Volpi Ludovica
- Subjects
Medicine - Abstract
Abstract Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis). Gastrointestinal, respiratory and haematological signs have been reported in a few patients. RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. Diagnosis is based on clinical findings (primarily on the age of onset, spreading and appearance of the poikiloderma) and molecular analysis for RECQL4 mutations. Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. A fully informative test requires transcript analysis not to overlook intronic deletions causing missplicing. The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes. The differential diagnosis should include other causes of childhood poikiloderma (including dyskeratosis congenita, Kindler syndrome and Poikiloderma with Neutropaenia), other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, Werner syndrome and Ataxia-telangiectasia) and the allelic disorders, RAPADILINO syndrome and Baller-Gerold syndrome, which also share some clinical features. A few mutations recur in all three RECQL4 diseases. Genetic counselling should be provided for RTS patients and their families, together with a recommendation for cancer surveillance for all patients with RTSII. Patients should be managed by a multidisciplinary team and offered long term follow-up. Treatment includes the use of pulsed dye laser photocoagulation to improve the telangiectatic component of the rash, surgical removal of the cataracts and standard treatment for individuals who develop cancer. Although some clinical signs suggest precocious aging, life expectancy is not impaired in RTS patients if they do not develop cancer. Outcomes in patients with osteosarcoma are similar in RTS and non-RTS patients, with a five-year survival rate of 60-70%. The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma.
- Published
- 2010
- Full Text
- View/download PDF
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