SERVETTI, MARTINA
SERVETTI, MARTINA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion
2021-01-01 Drovandi, S.; Servetti, M.; Angeletti, A.; Puliti, A.; Ronchetto, P.; Tassano, E.; Ghiggeri, G. M.; Caridi, G.
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.
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms
2021-01-01 Cerminara, Maria; Servetti, Martina; Squillari2, Margherita; Pisciotta, Livia; Spirito, Giovanni; Teresa Divizia, Maria; Lerone, Margherita; DE GRANDIS, Elisa; Boeri, Silvia; Nobili, Lino; Vozzi, Diego; Sanges, Remo; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
2019-01-01 Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria.
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
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs
2022-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs.
2021-01-01 Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A.
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs).
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria
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 |
|---|---|---|---|
| Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion | 1-gen-2021 | Drovandi, S.; Servetti, M.; Angeletti, A.; Puliti, A.; Ronchetto, P.; Tassano, E.; Ghiggeri, G. M.; Caridi, G. | |
| 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. | |
| Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms | 1-gen-2021 | Cerminara, Maria; Servetti, Martina; Squillari2, Margherita; Pisciotta, Livia; Spirito, Giovanni; Teresa Divizia, Maria; Lerone, Margherita; DE GRANDIS, Elisa; Boeri, Silvia; Nobili, Lino; Vozzi, Diego; Sanges, Remo; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria | |
| Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability | 1-gen-2019 | Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria. | |
| 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 | |
| Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs | 1-gen-2022 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. | 1-gen-2021 | Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A. | |
| Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria | |
| 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 |