BERTINI, Valeria

BERTINI, Valeria  

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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
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