Publications by authors named "Alessandra Fabbiani"

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VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Antonio Vitale, Valeria Caggiano, Antonio Bimonte, Federico Caroni, Gian Marco Tosi, Alessandra Fabbiani

Intern Emerg Med· April 2023

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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Alessandra Fabbiani

Brain· February 2023

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Corrigendum: Spondyloocular syndrome: A novel variant with description of the neonatal phenotype.
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou

Front Genet· January 2023

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The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.
Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, Gaafar Ragab, Emma Aragona, Alessandra Fabbiani

Front Med (Lausanne)· September 2022

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Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome.
Antonio Vitale, Valeria Caggiano, Francesca Della Casa, José Hernández-Rodríguez, Micol Frassi, Alessandra Fabbiani

Front Med (Lausanne)· July 2022

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, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Amjad Khan, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Anna Maria Pinto, Alessandra Fabbiani

Front Mol Neurosci· June 2022

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Identification of a Novel Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli

Genes (Basel)· April 2022

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Development and Implementation of the AIDA International Registry for Patients With Still's Disease.
Antonio Vitale, Francesca Della Casa, Giuseppe Lopalco, Rosa Maria Pereira, Piero Ruscitti, Alessandra Fabbiani

Front Med (Lausanne)· April 2022

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Spondyloocular Syndrome: A Novel Variant with Description of the Neonatal Phenotype.
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou

Front Genet· December 2021

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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Alessandra Fabbiani

Int J Mol Sci· December 2021

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Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.
Carla Gaggiano, Donato Rigante, José Hernández-Rodríguez, Antonio Vitale, Maria Tarsia, Alessandra Fabbiani

Ther Adv Musculoskelet Dis· September 2021

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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Alessandra Fabbiani

Front Oncol· August 2021

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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Alessandra Fabbiani

Brain Sci· July 2021

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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Alessandra Fabbiani

Front Oncol· May 2021

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Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.
Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Alessandra Fabbiani

Front Oncol· August 2020

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Carla Gaggiano, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Alessandra Fabbiani

Mediators Inflamm· July 2020

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Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.
Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Elisa Gelli

Cancer Med· March 2020

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PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis.
Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Giuseppe Maria Campennì

Cancer Cell Int· October 2019

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Practices and Perceptions of Family Centered Care among Healthcare Providers: A Cross-sectional Study in a Pediatric Hospital.
Immacolata Dall'Oglio, Michela Di Furia, Emanuela Tiozzo, Orsola Gawronski, Valentina Biagioli, Alessandra Fabbiani

J Pediatr Nurs· April 2019

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