BOTTILLO, IRENE
BOTTILLO, IRENE
DIPARTIMENTO DI MEDICINA SPERIMENTALE
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
2014 Castori, M; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome
2020 Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome
2020 Bottillo, I.; Valiante, M.; Menale, L.; Paiardini, A.; Papi, L.; Janson, G.; Sestini, R.; Iorio, A.; De Simone, P.; Frascione, P.; Grammatico, P.
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
2017 Bottillo, I; LA STARZA, SONIA ROBERTA; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, Sara; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy
2010 Sinibaldi, L; Harifi, G; Bottillo, Irene; Iannicelli, M; El Hassani, S; Brancati, F; Dallapiccola, B.
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
2022 Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
2016 Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
2018 Shao, L.; Cui, L.; Lu, J.; Lang, Y.; Bottillo, I.; Zhao, X.
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
2024 Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria
2016 Zhao, X.; Cui, L.; Lang, Y.; Liu, T.; Lu, J.; Wang, C.; Tuffery-Giraud, S.; Bottillo, I.; Wang, X.; Shao, L.
A single center retrospective review of patients from central italy tested for melanoma predisposition genes
2020 De Simone, P; Bottillo, I; Valiante, M; Iorio, A; De Bernardo, C; Majore, S; D'Angelantonio, D; Valentini, T; Sperduti, I; Piemonte, P; Eibenschutz, L; Ferrari, A; Carbone, A; Buccini, P; Paiardini, A; Silipo, V; Frascione, P; Grammatico, P
An Additional Patient With 3q27.3 Microdeletion Syndrome.
2014 Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF
2008 Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P.
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
2019 Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
2018 Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1
2011 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
2016 Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
2007 Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments
2021 Nicolazzo, Chiara; Gelibter, Alain; Bottillo, Irene; Belardinilli, Francesca; Pisegna, Simona; De Renzi, Gianluigi; Marinelli, Daniele; Grammatico, Paola; Cortesi, Enrico; Giannini, Giuseppe; Gazzaniga, Paola
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
2008 Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; Dallapiccola, B.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. | 2014 | Castori, M; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola | |
| A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome | 2020 | Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola | |
| A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome | 2020 | Bottillo, I.; Valiante, M.; Menale, L.; Paiardini, A.; Papi, L.; Janson, G.; Sestini, R.; Iorio, A.; De Simone, P.; Frascione, P.; Grammatico, P. | |
| A novel germline mutation in CDK4 codon 24 associated to familial melanoma | 2017 | Bottillo, I; LA STARZA, SONIA ROBERTA; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, Sara; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P | |
| A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy | 2010 | Sinibaldi, L; Harifi, G; Bottillo, Irene; Iannicelli, M; El Hassani, S; Brancati, F; Dallapiccola, B. | |
| A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report | 2022 | Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola | |
| A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review | 2016 | Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola | |
| A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II | 2018 | Shao, L.; Cui, L.; Lu, J.; Lang, Y.; Bottillo, I.; Zhao, X. | |
| A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? | 2024 | Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella | |
| A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria | 2016 | Zhao, X.; Cui, L.; Lang, Y.; Liu, T.; Lu, J.; Wang, C.; Tuffery-Giraud, S.; Bottillo, I.; Wang, X.; Shao, L. | |
| A single center retrospective review of patients from central italy tested for melanoma predisposition genes | 2020 | De Simone, P; Bottillo, I; Valiante, M; Iorio, A; De Bernardo, C; Majore, S; D'Angelantonio, D; Valentini, T; Sperduti, I; Piemonte, P; Eibenschutz, L; Ferrari, A; Carbone, A; Buccini, P; Paiardini, A; Silipo, V; Frascione, P; Grammatico, P | |
| An Additional Patient With 3q27.3 Microdeletion Syndrome. | 2014 | Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola | |
| Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF | 2008 | Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P. | |
| Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene | 2019 | Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola | |
| Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome | 2018 | Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno | |
| Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 | 2011 | Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola | |
| Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement | 2016 | Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola | |
| Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes | 2007 | Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno | |
| Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments | 2021 | Nicolazzo, Chiara; Gelibter, Alain; Bottillo, Irene; Belardinilli, Francesca; Pisegna, Simona; De Renzi, Gianluigi; Marinelli, Daniele; Grammatico, Paola; Cortesi, Enrico; Giannini, Giuseppe; Gazzaniga, Paola | |
| Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes | 2008 | Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; Dallapiccola, B. |