Sfoglia per Autore
Rasal1 and ros1 gene variants in hereditary breast cancer
2020 Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E.
Results and clinical interpretation of germline RET analysis in a series of patients with medullary thyroid carcinoma: The challenge of the variants of uncertain significance
2020 Innella G.; Rossi C.; Romagnoli M.; Repaci A.; Bianchi D.; Cantarini M.E.; Martorana D.; Godino L.; Pession A.; Percesepe A.; Pagotto U.; Turchetti D.
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis
2021 Innella G.; Bonora E.; Neri I.; Virdi A.; Guglielmo A.; Pradella L.M.; Ceccarelli C.; Amato L.B.; Lanzoni A.; Miccoli S.; Gasparre G.; Zuntini R.; Turchetti D.
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5)
2021 Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco A.; Graziano C.
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review
2021 Innella G.; Miccoli S.; Colussi D.; Pradella L.M.; Amato L.B.; Zuntini R.; Salfi N.C.M.; Collina G.; Ferrara F.; Ricciardiello L.; Turchetti D.
New clinical features in an adult patient with Skraban-Deardorff syndrome
2022 Innella, Giovanni; Scarano, Emanuela; Palumbo, Pietro; Carella, Massimo; Severi, Giulia
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis
2023 Innella, Giovanni; Godino, Lea; Erini, Giulia; De Leo, Antonio; Santini, Donatella; Perrone, Anna Myriam; De Iaco, Pierandrea; Zamagni, Claudio; Turchetti, Daniela
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
2023 Trevisan, Lucia; Godino, Lea; Battistuzzi, Linda; Innella, Giovanni; Luppi, Elena; Buzzatti, Giulia; Gismondi, Viviana; Blondeaux, Eva; Bonelli, Luigina Ada; Turchetti, Daniela; Varesco, Liliana
Characterization of BRCA Deficiency in Ovarian Cancer
2023 Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone, Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome
2023 Hendricks, Linda A J; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R; Brunet, Joan; Lleuger-Pujol, Roser; Høberg-Vetti, Hildegunn; Haavind, Marianne Tveit; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P; Olderode-Berends, Maran J W; Blatnik, Ana; Leter, Edward M; Evans, D Gareth; Woodward, Emma R; Steinke-Lange, Verena; Anastasiadou, Violetta C; Colas, Chrystelle; Villy, Marie-Charlotte; Benusiglio, Patrick R; Gerasimenko, Anna; Barili, Valeria; Branchaud, Maud; Houdayer, Claude; Tesi, Bianca; Yazicioglu, M Omer; van der Post, Rachel S; Schuurs-Hoeijmakers, Janneke H M; van Hest, Liselotte P; Adank, Muriel A; Duijkers, Floor; Nielsen, Maartje; Verbeek, Katja C J; van Ierland, Yvette; Giltay, Jacques C; Vos, Janet R
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
2023 Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Michael T; Spurdle, Amanda B; Turchetti, Daniela
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
2024 Fortuno, Cristina; Feng, Bing-Jian; Carroll, Courtney; Innella, Giovanni; Kohlmann, Wendy; Lázaro, Conxi; Brunet, Joan; Feliubadaló, Lidia; Iglesias, Silvia; Menéndez, Mireia; Teulé, Alex; Ballinger, Mandy L; Thomas, David M; Campbell, Ainsley; Field, Mike; Harris, Marion; Kirk, Judy; Pachter, Nicholas; Poplawski, Nicola; Susman, Rachel; Tucker, Kathy; Wallis, Mathew; Williams, Rachel; Cops, Elisa; Goldgar, David; James, Paul A; Spurdle, Amanda B
Long read sequencing on its way to the routine diagnostics of genetic diseases
2024 Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Rasal1 and ros1 gene variants in hereditary breast cancer | Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E. | 2020-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-12-02539-v2.pdf; cancers-12-02539-s001.pdf |
| Results and clinical interpretation of germline RET analysis in a series of patients with medullary thyroid carcinoma: The challenge of the variants of uncertain significance | Innella G.; Rossi C.; Romagnoli M.; Repaci A.; Bianchi D.; Cantarini M.E.; Martorana D.; Godino L....; Pession A.; Percesepe A.; Pagotto U.; Turchetti D. | 2020-01-01 | CANCERS | - | 1.01 Articolo in rivista | innella.pdf |
| PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis | Innella G.; Bonora E.; Neri I.; Virdi A.; Guglielmo A.; Pradella L.M.; Ceccarelli C.; Amato L.B.;... Lanzoni A.; Miccoli S.; Gasparre G.; Zuntini R.; Turchetti D. | 2021-01-01 | FRONTIERS IN MEDICINE | - | 1.01 Articolo in rivista | fmed-08-688105.pdf; Table_1.docx |
| Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) | Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco... A.; Graziano C. | 2021-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review | Innella G.; Miccoli S.; Colussi D.; Pradella L.M.; Amato L.B.; Zuntini R.; Salfi N.C.M.; Collina ...G.; Ferrara F.; Ricciardiello L.; Turchetti D. | 2021-01-01 | PATHOLOGY RESEARCH AND PRACTICE | - | 1.01 Articolo in rivista | - |
| New clinical features in an adult patient with Skraban-Deardorff syndrome | Innella, Giovanni; Scarano, Emanuela; Palumbo, Pietro; Carella, Massimo; Severi, Giulia | 2022-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis | Innella, Giovanni; Godino, Lea; Erini, Giulia; De Leo, Antonio; Santini, Donatella; Perrone, Anna... Myriam; De Iaco, Pierandrea; Zamagni, Claudio; Turchetti, Daniela | 2023-01-01 | JOURNAL OF CLINICAL PATHOLOGY | - | 1.01 Articolo in rivista | - |
| Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? | Trevisan, Lucia; Godino, Lea; Battistuzzi, Linda; Innella, Giovanni; Luppi, Elena; Buzzatti, Giul...ia; Gismondi, Viviana; Blondeaux, Eva; Bonelli, Luigina Ada; Turchetti, Daniela; Varesco, Liliana | 2023-01-01 | FAMILIAL CANCER | - | 1.01 Articolo in rivista | - |
| Characterization of BRCA Deficiency in Ovarian Cancer | Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone..., Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela | 2023-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-15-01530-v2.pdf; cancers-15-01530-s001 (1).zip |
| Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome | Hendricks, Linda A J; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R; Brunet, Joan; Lleuger-Pujol, R...oser; Høberg-Vetti, Hildegunn; Haavind, Marianne Tveit; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P; Olderode-Berends, Maran J W; Blatnik, Ana; Leter, Edward M; Evans, D Gareth; Woodward, Emma R; Steinke-Lange, Verena; Anastasiadou, Violetta C; Colas, Chrystelle; Villy, Marie-Charlotte; Benusiglio, Patrick R; Gerasimenko, Anna; Barili, Valeria; Branchaud, Maud; Houdayer, Claude; Tesi, Bianca; Yazicioglu, M Omer; van der Post, Rachel S; Schuurs-Hoeijmakers, Janneke H M; van Hest, Liselotte P; Adank, Muriel A; Duijkers, Floor; Nielsen, Maartje; Verbeek, Katja C J; van Ierland, Yvette; Giltay, Jacques C; Vos, Janet R | 2023-01-01 | JOURNAL OF THE NATIONAL CANCER INSTITUTE | - | 1.01 Articolo in rivista | djac188.pdf; djac188_supplementary_data.pdf |
| Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 | Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Mich...ael T; Spurdle, Amanda B; Turchetti, Daniela | 2023-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum | Fortuno, Cristina; Feng, Bing-Jian; Carroll, Courtney; Innella, Giovanni; Kohlmann, Wendy; Lázaro..., Conxi; Brunet, Joan; Feliubadaló, Lidia; Iglesias, Silvia; Menéndez, Mireia; Teulé, Alex; Ballinger, Mandy L; Thomas, David M; Campbell, Ainsley; Field, Mike; Harris, Marion; Kirk, Judy; Pachter, Nicholas; Poplawski, Nicola; Susman, Rachel; Tucker, Kathy; Wallis, Mathew; Williams, Rachel; Cops, Elisa; Goldgar, David; James, Paul A; Spurdle, Amanda B | 2024-01-01 | JCO PRECISION ONCOLOGY | - | 1.01 Articolo in rivista | - |
| Long read sequencing on its way to the routine diagnostics of genetic diseases | Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Mag...ini, Pamela | 2024-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | - |
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