LECCA, MAURO
LECCA, MAURO
DIPARTIMENTO DI MEDICINA MOLECOLARE
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21
2021-01-01 Bonometti, A.; Lobascio, G.; Boveri, E.; Cesari, S.; Lecca, M.; Arossa, A.; Spinillo, A.; Errichiello, E.; Paulli, M.
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
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
Congenital cataract: novel molecular, structural and clinical findings in a large Italian cohort
2024-11-06 Lecca, Mauro
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
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
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
2024-01-01 Lecca, Mauro; Mauri, Lucia; Gana, Simone; Del Longo, Alessandra; Morelli, Federica; Nicotra, Roberta; Plumari, Massimo; Galli, Jessica; Sirchia, Fabio; Valente, Enza Maria; Cavallari, Ugo; Mazza, Marco; Signorini, Sabrina; Errichiello, Edoardo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 | 1-gen-2021 | Bonometti, A.; Lobascio, G.; Boveri, E.; Cesari, S.; Lecca, M.; Arossa, A.; Spinillo, A.; Errichiello, E.; Paulli, M. | |
| 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 | |
| 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 | |
| Congenital cataract: novel molecular, structural and clinical findings in a large Italian cohort | 6-nov-2024 | Lecca, Mauro | |
| 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 | |
| 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 | |
| Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract | 1-gen-2024 | Lecca, Mauro; Mauri, Lucia; Gana, Simone; Del Longo, Alessandra; Morelli, Federica; Nicotra, Roberta; Plumari, Massimo; Galli, Jessica; Sirchia, Fabio; Valente, Enza Maria; Cavallari, Ugo; Mazza, Marco; Signorini, Sabrina; Errichiello, Edoardo |