Publications by authors named "Barbara Masotto"

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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, Anna Cueto-González, Jordi Leno-Colorado, Bárbara Masotto

Genet Med· January 2026

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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Laura Trujillano, Irene Valenzuela, Mar Costa-Roger, Ivon Cuscó, Paula Fernandez-Alvarez, Bárbara Masotto

Clin Genet· June 2025

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Prenatal FBXL4-Associated Mitochondrial DNA Depletion Syndrome-13: A New Case and Review of the Literature.
Andrea Ros, Ivan Hurtado, Élida Vázquez-Méndez, Laura Monlleó-Neila, Montserrat Pauta, Barbara Masotto

Prenat Diagn· June 2025

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H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.
Elena Marastoni, Serena Ammendola, Sabrina Rossi, Isabella Giovannoni, Giuseppe Broggi, Barbara Masotto

Virchows Arch· April 2025

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New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Ana Isabel Sánchez Barbero, Irene Valenzuela, Paula Fernández-Alvarez, Élida Vazquez, Anna Maria Cueto-Gonzalez, Bárbara Masotto

Am J Med Genet A· March 2025

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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, Anna Cueto-González, Jordi Leno-Colorado, Bárbara Masotto

Genet Med· December 2024

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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Barbara Masotto

Am J Med Genet A· July 2024

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CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.
Valeria Barresi, Antonello Cardoni, Evelina Miele, Lucia Pedace, Barbara Masotto

Acta Neuropathol Commun· January 2024

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Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
Diana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, Christian Martin Moya, Harry Pachajoa

Front Genet· July 2023

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"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, Delia Ceballos-Saenz, Eugenio Zapata-Aldana

Eur J Med Genet· November 2022

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Is endoscopic inspection necessary to detect residual disease in acoustic neuroma surgery?
Daniele Marchioni, Luca Gazzini, Francesco Boaria, Giampietro Pinna, Barbara Masotto

Eur Arch Otorhinolaryngol· August 2019

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Extra-axial anaplastic astroblastoma in a 67-year-old woman.
Riccardo Bernasconi, Albino Eccher, Ilaria Girolami, Marcello Boldrini, Barbara Masotto

Neuropathology· August 2019

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Hearing Restoration During Vestibular Schwannoma Surgery With Transcanal Approach: Anatomical and Functional Preliminary Report.
Daniele Marchioni, Sheila Veronese, Marco Carner, Andrea Sacchetto, Luca Sacchetto, Barbara Masotto

Otol Neurotol· December 2018

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Response to Letter to The Editor "Transcanal Transpromontorial Approach to Vestibular Schwannoma: Are We There Yet?".
Daniele Marchioni, Davide Soloperto, Barbara Masotto, Cristoforo Fabbris, Stefano De Rossi

Otol Neurotol· June 2018

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Expanded Transcanal Transpromontorial Approach: A Novel Surgical Technique for Cerebellopontine Angle Vestibular Schwannoma Removal.
Daniele Marchioni, Marco Carner, Davide Soloperto, Luca Bianconi, Andrea Sacchetto, Barbara Masotto

Otolaryngol Head Neck Surg· April 2018

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Transcanal Transpromontorial Acoustic Neuroma Surgery: Results and Facial Nerve Outcomes.
Daniele Marchioni, Davide Soloperto, Barbara Masotto, Cristoforo Fabbris, Stefano De Rossi

Otol Neurotol· February 2018

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[16p11.2 Microdeletion: first report in Argentina].
Agostina Tardivo, Bárbara Masotto, Lucía Espeche, Andrea P Solari, Julián Nevado

Arch Argent Pediatr· December 2017

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Expanded transcanal transpromontorial approach to the internal auditory canal: Pilot clinical experience.
Livio Presutti, Matteo Alicandri-Ciufelli, Marco Bonali, Alessia Rubini, Giacomo Pavesi, Barbara Masotto

Laryngoscope· November 2017

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The Fully Endoscopic Acoustic Neuroma Surgery.
Daniele Marchioni, Marco Carner, Alessia Rubini, João Flávio Nogueira, Barbara Masotto

Otolaryngol Clin North Am· October 2016

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New perspectives in the treatment of adult medulloblastoma in the era of molecular oncology.
Alba A Brandes, Marco Bartolotti, Gianluca Marucci, Claudio Ghimenton, Raffaele Agati, Barbara Masotto

Crit Rev Oncol Hematol· June 2015

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Surgical management of ventral and ventrolateral foramen magnum meningiomas: report on a 64-case series and review of the literature.
Andrea Talacchi, Antonio Biroli, Christian Soda, Barbara Masotto, Albino Bricolo

Neurosurg Rev· July 2012

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Intrathecal liposomal cytarabine in combination with temozolomide in low-grade oligoastrocytoma with leptomeningeal dissemination.
Maria Grazia Passarin, Giuseppe Moretto, Anna Maria Musso, Sarah Ottaviani, Barbara Masotto

J Neurooncol· May 2010

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The first successful case of hearing produced by electrical stimulation of the human midbrain.
Vittorio Colletti, Robert Shannon, Marco Carner, Luca Sacchetto, Sergio Turazzi, Barbara Masotto

Otol Neurotol· January 2007

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T-cell cytotoxicity of human Schwann cells: TNFalpha promotes fasL-mediated apoptosis and IFN gamma perforin-mediated lysis.
Bruno Bonetti, Paola Valdo, Giovanni Ossi, Luca De Toni, Barbara Masotto

Glia· August 2003

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