BERTINI, Valeria
BERTINI, Valeria
Application of SNP-Arrays, FISH and GenotypeColour in Molecular Diagnosis of Mental Retardation
2010-01-01 Magri, Chiara; Piovani, Giovanna; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio
Application of SNP-arrays, FISH and genotypecolour in molecular diagnosis of mental retardation
2010-01-01 Magri, Chiara; Piovani, Giovanna; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
2024-01-01 Ritelli, M.; Chiarelli, N.; Cinquina, V.; Bertini, V.; Piantoni, S.; Caproli, A.; Della Pina, S.; Franceschini, F.; Zarattini, G.; Gandy, W.; Venturini, M.; Zoppi, N.; Colombi, M.
Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype
2008-01-01 Borsani, Giuseppe; Piovani, Giovanna; Zoppi, Nicoletta; Bertini, Valeria; Bini, R; Notarangelo, Luigi Daniele; Barlati, Sergio
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
2024-01-01 Chiarelli, N.; Cinquina, V.; Martini, P.; Bertini, V.; Zoppi, N.; Venturini, M.; Ritelli, M.; Colombi, M.
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation
2017-01-01 Mora, Cristina; Serzanti, Marialaura; Giacomelli, Alessio; Turco, Valentina; Marchina, Eleonora; Bertini, Valeria; Piovani, Giovanna; Savio, Giulia; Refsgaard, Lena; Olesen, Morten Salling; Cortellini, Venusia; Dell'Era, Patrizia
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation
2017-01-01 Mora, Cristina; Serzanti, Marialaura; Giacomelli, Alessio; Beltramone, Silvia; Marchina, Eleonora; Bertini, Valeria; Piovani, Giovanna; Refsgaard, Lena; Olesen, Morten Salling; Cortellini, Venusia; Dell'Era, Patrizia
Human iPSC modeling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes
2020-01-01 Benzoni, Patrizia; Campostrini, Giulia; Landi, Sara; Bertini, Valeria; Marchina, Eleonora; Iascone, Maria; Ahlberg, Gustav; Olesen, Morten Salling; Crescini, Elisabetta; Mora, Cristina; Bisleri, Gianluigi; Muneretto, Claudio; Ronca, Roberto; Presta, Marco; Poliani, Pier Luigi; Piovani, Giovanna; Verardi, Rosanna; Pasquale, Elisa Di; Consiglio, Antonella; Raya, Angel; Torre, Eleonora; Lodrini, Alessandra Maria; Milanesi, Raffaella; Rocchetti, Marcella; Baruscotti, Mirko; Difrancesco, Dario; Memo, Maurizio; Barbuti, Andrea; Dell'Era, Patrizia
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: A case report
2020-01-01 Maccarini, S.; Cipani, A.; Bertini, V.; Skripac, J.; Salvi, A.; Borsani, G.; Marchina, E.
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency
2009-01-01 Fiorini, M; Piovani, G; Schumacher, Rf; Magri, C; Bertini, V; Mazzolari, E; Notarangelo, L; Notarangelo, Ld; Barlati, S
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
2022-01-01 Ritelli, Marco; Chiarelli, Nicola; Cinquina, Valeria; Zoppi, Nicoletta; Bertini, Valeria; Venturini, Marina; Colombi, Marina
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shades light on the molecular origin of the rearrangement.
2011-01-01 Piovani, Giovanna; Magri, Chiara; Marchina, Eleonora; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement
2015-01-01 Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
2006-01-01 Piovani, Giovanna; Borsani, Giuseppe; Bertini, Valeria; Kalscheuer, Vm; Viertel, P; Bellotti, Daniela; Valseriati, Daniela; Barlati, Sergio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Application of SNP-Arrays, FISH and GenotypeColour in Molecular Diagnosis of Mental Retardation | 1-gen-2010 | Magri, Chiara; Piovani, Giovanna; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio | |
| Application of SNP-arrays, FISH and genotypecolour in molecular diagnosis of mental retardation | 1-gen-2010 | Magri, Chiara; Piovani, Giovanna; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio | |
| Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker | 1-gen-2024 | Ritelli, M.; Chiarelli, N.; Cinquina, V.; Bertini, V.; Piantoni, S.; Caproli, A.; Della Pina, S.; Franceschini, F.; Zarattini, G.; Gandy, W.; Venturini, M.; Zoppi, N.; Colombi, M. | |
| Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype | 1-gen-2008 | Borsani, Giuseppe; Piovani, Giovanna; Zoppi, Nicoletta; Bertini, Valeria; Bini, R; Notarangelo, Luigi Daniele; Barlati, Sergio | |
| Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts | 1-gen-2024 | Chiarelli, N.; Cinquina, V.; Martini, P.; Bertini, V.; Zoppi, N.; Venturini, M.; Ritelli, M.; Colombi, M. | |
| Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation | 1-gen-2017 | Mora, Cristina; Serzanti, Marialaura; Giacomelli, Alessio; Turco, Valentina; Marchina, Eleonora; Bertini, Valeria; Piovani, Giovanna; Savio, Giulia; Refsgaard, Lena; Olesen, Morten Salling; Cortellini, Venusia; Dell'Era, Patrizia | |
| Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation | 1-gen-2017 | Mora, Cristina; Serzanti, Marialaura; Giacomelli, Alessio; Beltramone, Silvia; Marchina, Eleonora; Bertini, Valeria; Piovani, Giovanna; Refsgaard, Lena; Olesen, Morten Salling; Cortellini, Venusia; Dell'Era, Patrizia | |
| Human iPSC modeling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes | 1-gen-2020 | Benzoni, Patrizia; Campostrini, Giulia; Landi, Sara; Bertini, Valeria; Marchina, Eleonora; Iascone, Maria; Ahlberg, Gustav; Olesen, Morten Salling; Crescini, Elisabetta; Mora, Cristina; Bisleri, Gianluigi; Muneretto, Claudio; Ronca, Roberto; Presta, Marco; Poliani, Pier Luigi; Piovani, Giovanna; Verardi, Rosanna; Pasquale, Elisa Di; Consiglio, Antonella; Raya, Angel; Torre, Eleonora; Lodrini, Alessandra Maria; Milanesi, Raffaella; Rocchetti, Marcella; Baruscotti, Mirko; Difrancesco, Dario; Memo, Maurizio; Barbuti, Andrea; Dell'Era, Patrizia | |
| Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: A case report | 1-gen-2020 | Maccarini, S.; Cipani, A.; Bertini, V.; Skripac, J.; Salvi, A.; Borsani, G.; Marchina, E. | |
| ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency | 1-gen-2009 | Fiorini, M; Piovani, G; Schumacher, Rf; Magri, C; Bertini, V; Mazzolari, E; Notarangelo, L; Notarangelo, Ld; Barlati, S | |
| RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms | 1-gen-2022 | Ritelli, Marco; Chiarelli, Nicola; Cinquina, Valeria; Zoppi, Nicoletta; Bertini, Valeria; Venturini, Marina; Colombi, Marina | |
| SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shades light on the molecular origin of the rearrangement. | 1-gen-2011 | Piovani, Giovanna; Magri, Chiara; Marchina, Eleonora; Traversa, Michele; Bertini, Valeria; Pilotta, A.; Barlati, Sergio | |
| SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement | 1-gen-2015 | Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna | |
| Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype | 1-gen-2006 | Piovani, Giovanna; Borsani, Giuseppe; Bertini, Valeria; Kalscheuer, Vm; Viertel, P; Bellotti, Daniela; Valseriati, Daniela; Barlati, Sergio |