Publications by authors named "Giovannina Rotundo"

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Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.
Kim Wong, Justin A Bishop, Ilan Weinreb, Marialetizia Motta, Martin Del Castillo Velasco-Herrera, Giovannina Rotundo

Nat Commun· May 2025

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Giovannina Rotundo

Genet Med· November 2024

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Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente

Stem Cell Res· August 2024

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RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
Marialetizia Motta, Sabina Barresi, Simone Pizzi, Delfina Bifano, Jennifer Lopez Marti, Giovannina Rotundo

J Pathol· June 2024

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Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido

Stem Cell Res· March 2023

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Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.
Angela Maria Giada Giovenale, Giorgia Ruotolo, Amata Amy Soriano, Elisa Maria Turco, Giovannina Rotundo

Front Cell Dev Biol· February 2023

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Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.
Angela Maria Giada Giovenale, Giorgia Ruotolo, Amata Amy Soriano, Elisa Maria Turco, Giovannina Rotundo

Front Cell Dev Biol· January 2023

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Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, Martina Mazzoni, Paola Zanfardino

Stem Cell Res· December 2022

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Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel

Stem Cell Res· October 2019

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Parkin Mutation Affects Clock Gene-Dependent Energy Metabolism.
Consiglia Pacelli, Giovannina Rotundo, Lucia Lecce, Marta Menga, Eris Bidollari

Int J Mol Sci· June 2019

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Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.
Giovannina Rotundo, Eris Bidollari, Daniela Ferrari, Iolanda Spasari, Laura Bernardini

Stem Cell Res· May 2018

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Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Ornella Candido, Laura Bernardini

Stem Cell Res· April 2018

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Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease.
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres

Stem Cell Res· March 2018

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