LERONE, MARGHERITA
LERONE, MARGHERITA
170011 - UNIVERSITA' DEGLI STUDI DI GENOVA
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.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
2020-01-01 Baldelli, I.; Baccarani, A.; Barone, C.; Bedeschi, F.; Bianca, S.; Calabrese, O.; Castori, M.; Catena, N.; Corain, M.; Costanzo, S.; Barbato, G. P.; THELLUNG DE COURTELARY, Stefano; Divizia, M. T.; Feletti, F.; Formica, M.; Lando, M.; Lerone, M.; Lorenzetti, F.; Martinoli, C.; Mellini, L.; Nava, M. B.; Porcellini, G.; Puliti, A.; Romanini, M. V.; Rondoni, F.; Santi, P.; Sartini, S.; Senes, F.; Spada, L.; Tarani, L.; Valle, M.; Venturino, C.; Zaottini, F.; Torre, M.; Crimi, M.
Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis
2010-01-01 Torre, M.; Baban, A.; Buluggiu, A.; Costanzo, S.; Bricco, L.; Lerone, M.; Bianca, S.; Gatti, G. L.; Senes, F. M.; Valle, M.; Calevo, M. G.
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients
2002-01-01 Torre, M.; Martucciello, G.; Ceccherini, I.; Lerone, M.; Aicardi, M.; Gambini, C.; Jasonni, V.
Diagnostic Criteria of Pediatric Intestinal Myopathies
2018-01-01 Lombardi, Laura; Bruder, Elisabeth; Pio, Luca; Nozza, Paolo; Thai, Elena; Lerone, Margherita; Del Rossi, Carmine; Mattioli, Girolamo; Silini, Enrico Maria; Paraboschi, Irene; Martucciello, Giuseppe
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
1999-01-01 Seri, M.; Martucciello, G.; Paleari, L.; Bolino, A.; Priolo, M.; Salemi, G.; Forabosco, P.; Caroli, F.; Cusano, R.; Tocco, T.; Lerone, M.; Cama, A.; Torre, M.; Guys, J. M.; Romeo, G.; Jasonni, V.
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
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
Response to Klinger and Merlob re: Case description with review of the literature. Am J Med Genet Part A 149A:1597-1602, 2009
2009-01-01 Baban, A.; Torre, M.; Bianca, S.; Buluggiu, A.; Rossello, M. I.; Calevo, M. G.; Valle, M.; Ravazzolo, R.; Jasonni, V.; Lerone, M.
| 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. | |
| Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) | 1-gen-2020 | Baldelli, I.; Baccarani, A.; Barone, C.; Bedeschi, F.; Bianca, S.; Calabrese, O.; Castori, M.; Catena, N.; Corain, M.; Costanzo, S.; Barbato, G. P.; THELLUNG DE COURTELARY, Stefano; Divizia, M. T.; Feletti, F.; Formica, M.; Lando, M.; Lerone, M.; Lorenzetti, F.; Martinoli, C.; Mellini, L.; Nava, M. B.; Porcellini, G.; Puliti, A.; Romanini, M. V.; Rondoni, F.; Santi, P.; Sartini, S.; Senes, F.; Spada, L.; Tarani, L.; Valle, M.; Venturino, C.; Zaottini, F.; Torre, M.; Crimi, M. | |
| Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis | 1-gen-2010 | Torre, M.; Baban, A.; Buluggiu, A.; Costanzo, S.; Bricco, L.; Lerone, M.; Bianca, S.; Gatti, G. L.; Senes, F. M.; Valle, M.; Calevo, M. G. | |
| Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients | 1-gen-2002 | Torre, M.; Martucciello, G.; Ceccherini, I.; Lerone, M.; Aicardi, M.; Gambini, C.; Jasonni, V. | |
| Diagnostic Criteria of Pediatric Intestinal Myopathies | 1-gen-2018 | Lombardi, Laura; Bruder, Elisabeth; Pio, Luca; Nozza, Paolo; Thai, Elena; Lerone, Margherita; Del Rossi, Carmine; Mattioli, Girolamo; Silini, Enrico Maria; Paraboschi, Irene; Martucciello, Giuseppe | |
| Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment | 1-gen-1999 | Seri, M.; Martucciello, G.; Paleari, L.; Bolino, A.; Priolo, M.; Salemi, G.; Forabosco, P.; Caroli, F.; Cusano, R.; Tocco, T.; Lerone, M.; Cama, A.; Torre, M.; Guys, J. M.; Romeo, G.; Jasonni, V. | |
| 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 | |
| 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 | |
| Response to Klinger and Merlob re: Case description with review of the literature. Am J Med Genet Part A 149A:1597-1602, 2009 | 1-gen-2009 | Baban, A.; Torre, M.; Bianca, S.; Buluggiu, A.; Rossello, M. I.; Calevo, M. G.; Valle, M.; Ravazzolo, R.; Jasonni, V.; Lerone, M. |