DIVIZIA, MARIA TERESA
DIVIZIA, MARIA TERESA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
2010-01-01 Marini, M; Bocciardi, R; Gimelli, S; DI DUCA, M; Divizia, Mt; Baban, A; Gaspar, H; Mammi, I; Garavelli, L; Cerone, R; Emma, F; Bedeschi, Mf; Tenconi, R; Sensi, A; Salmaggi, A; Bengala, M; Mari, F; Colussi, G; Szczaluba, K; Antonarakis, Se; Seri, M; Lerone, M; Ravazzolo, R.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
2021-01-01 Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing
2023-01-01 Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development
2019-01-01 Monti, Paola; Ciribilli, Yari; Foggetti, Giorgia; Menichini, Paola; Bisio, Alessandra; Cappato, Serena; Inga, Alberto; Divizia, Maria Teresa; Lerone, Margherita; Bocciardi, Renata; Fronza, Gilberto
Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption
2021-01-01 Tassano, E.; Ronchetto, P.; Severino, M.; Divizia, M. T.; Lerone, M.; Uccella, S.; Nobili, L.; Tavella, E.; Morerio, C.; Coviello, D.; Malacarne, M.
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome
2022-01-01 Cerminara, Maria; Vaccari, Carlotta; Musante, Ilaria; Divizia, MARIA TERESA; Lerone, Margherita; Torre, Michele; Victoria Romanini, Maria; Bossi, Simone; Servetti, Martina; Bocciardi, Renata; Pedemonte, Nicoletta; Del Zotto, Genny; Maria Senes, Filippo; Valle, Maura; Grazia Calevo, Maria; Fontana, Marco; Cittaro, Davide; Lazarevic, Dejan; Zara, Federico; Francesca Bedeschi, Maria; Puliti, Aldamaria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents | 1-gen-2010 | Marini, M; Bocciardi, R; Gimelli, S; DI DUCA, M; Divizia, Mt; Baban, A; Gaspar, H; Mammi, I; Garavelli, L; Cerone, R; Emma, F; Bedeschi, Mf; Tenconi, R; Sensi, A; Salmaggi, A; Bengala, M; Mari, F; Colussi, G; Szczaluba, K; Antonarakis, Se; Seri, M; Lerone, M; Ravazzolo, R. | |
| Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances | 1-gen-2021 | Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A. | |
| Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing | 1-gen-2023 | Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria | |
| P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development | 1-gen-2019 | Monti, Paola; Ciribilli, Yari; Foggetti, Giorgia; Menichini, Paola; Bisio, Alessandra; Cappato, Serena; Inga, Alberto; Divizia, Maria Teresa; Lerone, Margherita; Bocciardi, Renata; Fronza, Gilberto | |
| Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption | 1-gen-2021 | Tassano, E.; Ronchetto, P.; Severino, M.; Divizia, M. T.; Lerone, M.; Uccella, S.; Nobili, L.; Tavella, E.; Morerio, C.; Coviello, D.; Malacarne, M. | |
| Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome | 1-gen-2022 | Cerminara, Maria; Vaccari, Carlotta; Musante, Ilaria; Divizia, MARIA TERESA; Lerone, Margherita; Torre, Michele; Victoria Romanini, Maria; Bossi, Simone; Servetti, Martina; Bocciardi, Renata; Pedemonte, Nicoletta; Del Zotto, Genny; Maria Senes, Filippo; Valle, Maura; Grazia Calevo, Maria; Fontana, Marco; Cittaro, Davide; Lazarevic, Dejan; Zara, Federico; Francesca Bedeschi, Maria; Puliti, Aldamaria |