Valeria Bertini

Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes

Patrizia Benzoni, Giulia Campostrini, Sara Landi et al. · Cardiovascular Research · 2019 · 81 citations · Full text

Medicine, Cardiology, Genetics +13

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

Giuseppe Borsani, Giovanna Piovani, Nicoletta Zoppi et al. · European Journal of Medical Genetics · 2008 · 22 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Marco Ritelli, Nicola Chiarelli, Valeria Cinquina et al. · American Journal of Medical Genetics Part A · 2024 · 18 citations · Full text

Medicine, Pathobiology, Pathology +16

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

Marco Ritelli, Nicola Chiarelli, Valeria Cinquina et al. · Cells · 2022 · 16 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

Giovanna Piovani, Giuseppe Borsani, Valeria Bertini et al. · European Journal of Medical Genetics · 2005 · 11 citations

Life Sciences, Genetics, Molecular Genetics +17