Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome

by Giovanna Piovani, Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Chiara Barisani, Giulia Savio, Silvia Clara Giliani
Published 2019-03-01

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

by Massimiliano Filosto, Gaetana Lanzi, Claudia Nesti, Valentina Vielmi, Eleonora Marchina, Anna Galvagni, Silvia Giliani, Filippo M. Santorelli, Alessandro Padovani
Published 2016-03-01

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

by Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Giovanna Piovani, Chiara Barisani, Cristina Sobacchi, Anna Villa, Paolo Vezzoni, Silvia Giliani
Published 2020-01-01

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease

by Gaetana Lanzi, Stefania Masneri, Rosalba Monica Ferraro, Elena Genova, Giovanna Piovani, Chiara Barisani, Marco Pelin, Gabriele Stocco, Giuliana Decorti, Matteo Bramuzzo, Silvia Giliani
Published 2019-10-01

Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

by Eltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Valentina Serpieri, Enza Maria Valente, Lucio Giordano, Silvia Clara Giliani
Published 2020-12-01

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestation...

by Ruggero Moro, Antonella Fabiano, Piergiacomo Calzavara-Pinton, Jacopo Cardinale, Giovanni Palumbo, Silvia Giliani, Gaetana Lanzi, Francesca Antonelli, Micaela De Simone, Paola Martelli, Elisa Fazzi, Lorenzo Pinelli, Giulio Gualdi
Published 2019-11-01

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

by Rosalba Monica Ferraro, Stefania Masneri, Gaetana Lanzi, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani
Published 2019-12-01

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1

by Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani
Published 2019-12-01

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFI...

by Stefania Masneri, Gaetana Lanzi, Rosalba Monica Ferraro, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani
Published 2019-12-01

Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

by Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Lidia Pollara, Enza Maria Valente, Patrizia Accorsi, Lucio Giordano, Silvia Clara Giliani
Published 2021-07-01

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

by Giulio Tessarin, Stefano Rossi, Manuela Baronio, Luisa Gazzurelli, Michael Colpani, Alessio Benvenuto, Fiammetta Zunica, Fabio Cardinale, Baldassarre Martire, Letizia Brescia, Giorgio Costagliola, Laura Luti, Gabriella Casazza, Maria Cristina Menconi, Francesco Saettini, Laura Palumbo, Maria Federica Girelli, Raffaele Badolato, Gaetana Lanzi, Marco Chiarini, Daniele Moratto, Antonella Meini, Silvia Giliani, Maria Pia Bondioni, Alessandro Plebani, Vassilios Lougaris
Published 2020-10-01