Sfoglia per Autore
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
2021-01-01 Errichiello, E.; Malara, A.; Grimod, G.; Avolio, L.; Balduini, A.; Zuffardi, O.
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome
2021-01-01 Errichiello, E.; Mina, T.; Morbini, P.; Zecca, M.; Zuffardi, O.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
2021-01-01 Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions
2021-01-01 Carbone, R.; Rovedatti, L.; Lenti, M. V.; Furlan, D.; Errichiello, E.; Gana, S.; Luinetti, O.; Arpa, G.; Alvisi, C.; De Grazia, F.; Valente, E. M.; Sessa, F.; Paulli, M.; Vanoli, A.; Di Sabatino, A.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
2021-01-01 Maini, I.; Errichiello, E.; Caraffi, S. G.; Rosato, S.; Bizzarri, V.; Pollazzon, M.; Trimarchi, G.; Contro, G.; Cavirani, B.; Gelmini, C.; Napoli, M.; Moratti, C.; Pascarella, R.; Rizzi, S.; Fusco, C.; Zuffardi, O.; Garavelli, L.
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study
2021-01-01 Caretto, A.; Errichiello, E.; Patricelli, M. G.; Zuffardi, O.; Cristel, G.; Ravelli, S.; Sirtori, M.; Scavini, M.; Bosi, E.; Martinenghi, S.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
2021-01-01 Liu, S.; Aldinger, K. A.; Cheng, C. V.; Kiyama, T.; Dave, M.; Mcnamara, H. K.; Zhao, W.; Stafford, J. M.; Descostes, N.; Lee, P.; Caraffi, S. G.; Ivanovski, I.; Errichiello, E.; Zweier, C.; Zuffardi, O.; Schneider, M.; Papavasiliou, A. S.; Perry, M. S.; Humberson, J.; Cho, M. T.; Weber, A.; Swale, A.; Badea, T. C.; Mao, C. -A.; Garavelli, L.; Dobyns, W. B.; Reinberg, D.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
2021-01-01 Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
2022-01-01 Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo
SCN2A and arrhythmia: A potential correlation? A case report and literature review
2022-01-01 Tzialla, Chryssoula; Arossa, Alessia; Mannarino, Savina; Orcesi, Simona; Veggiotti, Pierangelo; Fiandrino, Giacomo; Zuffardi, Orsetta; Errichiello, Edoardo
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
2023-01-01 Lecca, Mauro; Pehlivan, Davut; Heine Suñer, Damià; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Paola Bonasoni, Maria; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Ellen Posey, Jennifer; Etka Bayramoglu, Sadik; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Amengual Cladera, Emilia; Miravet, Elena; Roldan-Busto, Jorge; Angeles Ruiz, María; Vives Bauzá, Cristofol; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; R Lupski, James; Errichiello, Edoardo
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
2023-01-01 De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M. G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E. M.; Danesino, C.
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
2023-01-01 Bonaglia, Maria Clara; Salvo, Eliana; Sironi, Manuela; Bertuzzo, Sara; Errichiello, Edoardo; Mattina, Teresa; Zuffardi, Orsetta
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
2023-01-01 Lecca, Mauro; Bedeschi, Maria Francesca; Izzi, Claudia; Dordoni, Chiara; Rinaldi, Berardo; Peluso, Francesca; Caraffi, Stefano Giuseppe; Prefumo, Federico; Signorelli, Marino; Zanzucchi, Matteo; Bione, Silvia; Ghigna, Claudia; Sassi, Silvia; Novelli, Antonio; Valente, Enza Maria; Superti-Furga, Andrea; Garavelli, Livia; Errichiello, Edoardo
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis”
2024-01-01 Lecca, Mauro; Scribante, Andrea; Errichiello, Edoardo
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements
2024-01-01 Prato, Adriana; Cirnigliaro, Lara; Maugeri, Federica; Luca, Antonina; Giuliano, Loretta; Vitiello, Giuseppina; Errichiello, Edoardo; Valente, ENZA MARIA; Del Giudice, Ennio; Mostile, Giovanni; Rizzo, Renata; Barone, Rita
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
2024-01-01 Errichiello, Edoardo; Lecca, Mauro; Vantaggiato, Chiara; Motta, Zoraide; Zanotta, Nicoletta; Zucca, Claudio; Bertuzzo, Sara; Piubelli, Luciano; Pollegioni, Loredano; Bonaglia, Maria Clara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome | 1-gen-2021 | Errichiello, E.; Malara, A.; Grimod, G.; Avolio, L.; Balduini, A.; Zuffardi, O. | |
| FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome | 1-gen-2021 | Errichiello, E.; Mina, T.; Morbini, P.; Zecca, M.; Zuffardi, O. | |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain | 1-gen-2021 | Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny | |
| Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions | 1-gen-2021 | Carbone, R.; Rovedatti, L.; Lenti, M. V.; Furlan, D.; Errichiello, E.; Gana, S.; Luinetti, O.; Arpa, G.; Alvisi, C.; De Grazia, F.; Valente, E. M.; Sessa, F.; Paulli, M.; Vanoli, A.; Di Sabatino, A. | |
| Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding | 1-gen-2021 | Maini, I.; Errichiello, E.; Caraffi, S. G.; Rosato, S.; Bizzarri, V.; Pollazzon, M.; Trimarchi, G.; Contro, G.; Cavirani, B.; Gelmini, C.; Napoli, M.; Moratti, C.; Pascarella, R.; Rizzi, S.; Fusco, C.; Zuffardi, O.; Garavelli, L. | |
| Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study | 1-gen-2021 | Caretto, A.; Errichiello, E.; Patricelli, M. G.; Zuffardi, O.; Cristel, G.; Ravelli, S.; Sirtori, M.; Scavini, M.; Bosi, E.; Martinenghi, S. | |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain | 1-gen-2021 | Liu, S.; Aldinger, K. A.; Cheng, C. V.; Kiyama, T.; Dave, M.; Mcnamara, H. K.; Zhao, W.; Stafford, J. M.; Descostes, N.; Lee, P.; Caraffi, S. G.; Ivanovski, I.; Errichiello, E.; Zweier, C.; Zuffardi, O.; Schneider, M.; Papavasiliou, A. S.; Perry, M. S.; Humberson, J.; Cho, M. T.; Weber, A.; Swale, A.; Badea, T. C.; Mao, C. -A.; Garavelli, L.; Dobyns, W. B.; Reinberg, D. | |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain | 1-gen-2021 | Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny | |
| A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot | 1-gen-2022 | Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo | |
| SCN2A and arrhythmia: A potential correlation? A case report and literature review | 1-gen-2022 | Tzialla, Chryssoula; Arossa, Alessia; Mannarino, Savina; Orcesi, Simona; Veggiotti, Pierangelo; Fiandrino, Giacomo; Zuffardi, Orsetta; Errichiello, Edoardo | |
| Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage | 1-gen-2023 | Lecca, Mauro; Pehlivan, Davut; Heine Suñer, Damià; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Paola Bonasoni, Maria; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Ellen Posey, Jennifer; Etka Bayramoglu, Sadik; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Amengual Cladera, Emilia; Miravet, Elena; Roldan-Busto, Jorge; Angeles Ruiz, María; Vives Bauzá, Cristofol; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; R Lupski, James; Errichiello, Edoardo | |
| Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) | 1-gen-2023 | De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M. G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E. M.; Danesino, C. | |
| Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants | 1-gen-2023 | Bonaglia, Maria Clara; Salvo, Eliana; Sironi, Manuela; Bertuzzo, Sara; Errichiello, Edoardo; Mattina, Teresa; Zuffardi, Orsetta | |
| Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 | 1-gen-2023 | Lecca, Mauro; Bedeschi, Maria Francesca; Izzi, Claudia; Dordoni, Chiara; Rinaldi, Berardo; Peluso, Francesca; Caraffi, Stefano Giuseppe; Prefumo, Federico; Signorelli, Marino; Zanzucchi, Matteo; Bione, Silvia; Ghigna, Claudia; Sassi, Silvia; Novelli, Antonio; Valente, Enza Maria; Superti-Furga, Andrea; Garavelli, Livia; Errichiello, Edoardo | |
| Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” | 1-gen-2024 | Lecca, Mauro; Scribante, Andrea; Errichiello, Edoardo | |
| Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements | 1-gen-2024 | Prato, Adriana; Cirnigliaro, Lara; Maugeri, Federica; Luca, Antonina; Giuliano, Loretta; Vitiello, Giuseppina; Errichiello, Edoardo; Valente, ENZA MARIA; Del Giudice, Ennio; Mostile, Giovanni; Rizzo, Renata; Barone, Rita | |
| Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders | 1-gen-2024 | Errichiello, Edoardo; Lecca, Mauro; Vantaggiato, Chiara; Motta, Zoraide; Zanotta, Nicoletta; Zucca, Claudio; Bertuzzo, Sara; Piubelli, Luciano; Pollegioni, Loredano; Bonaglia, Maria Clara |
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