Publications by authors named "Barbara Testa"

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Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing.
Alice Grossi, Alessia Cafaro, Marta Rusmini, Francesca Rosamilia, Michela Malacarne, Barbara Testa

J Allergy Clin Immunol Pract· November 2025

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A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.
Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi, Silvia Viaggi, Barbara Testa

Genes (Basel)· October 2025

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Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Renata Bocciardi, Barbara Testa

Stem Cell Res· June 2025

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Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.
Cesare Danesino, Federico Biglioli, Laura Moneghini, Roberto Valli, Carla Olivieri, Barbara Testa

Int J Mol Sci· October 2024

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Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.
Giuseppina Conteduca, Davide Cangelosi, Chiara Baldo, Alessia Arado, Barbara Testa

Genes (Basel)· August 2024

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Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa

Stem Cell Res· April 2024

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Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Martina Siracusano, Assia Riccioni, Ilaria Frattale, Lucrezia Arturi, Caterina Dante, Barbara Testa

Am J Med Genet A· July 2023

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Assessment of Magnetic Resonance Imaging Artefacts Caused by Equine Anaesthesia Equipment: A Cadaver Study.
Barbara Testa, Marianna Biggi, Christian A Byrne, Andrew Bell

J Equine Vet Sci· July 2023

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Exome Analysis Reveals Novel Missense and Deletion Variants in the Gene as Causative of Joubert Syndrome.
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Barbara Testa

Genes (Basel)· March 2023

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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa

Stem Cell Res· February 2023

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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects.
Giuseppina Conteduca, Barbara Testa, Chiara Baldo, Alessia Arado, Michela Malacarne

Gene· January 2023

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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri

Genes (Basel)· January 2023

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Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
Giuseppina Conteduca, Davide Cangelosi, Simona Coco, Michela Malacarne, Chiara Baldo, Barbara Testa

Life (Basel)· July 2022

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Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.
Michela Biancolella, Nabonswindé Lamoussa Marie Ouédraogo, Nayi Zongo, Théodora Mahoukèdè Zohoncon, Barbara Testa

Hum Genomics· October 2021

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The Short Form of the Glasgow Composite Measure Pain Scale in Post-operative Analgesia Studies in Dogs: A Scoping Review.
Barbara Testa, Jacqueline Reid, Marian E Scott, Pamela J Murison, Andrew M Bell

Front Vet Sci· September 2021

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Genetics and Genomics of Breast Cancer: update and translational perspectives.
Michela Biancolella, Barbara Testa, Leila Baghernajad Salehi, Maria Rosaria D'Apice, Giuseppe Novelli

Semin Cancer Biol· July 2021

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Membrane Cholesterol Modulates LOX-1 Shedding in Endothelial Cells.
Magda Gioia, Giulia Vindigni, Barbara Testa, Sofia Raniolo, Giovanni Francesco Fasciglione

PLoS One· June 2016

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The lectin-like oxidized LDL receptor-1: a new potential molecular target in colorectal cancer.
Michela Murdocca, Ruggiero Mango, Sabina Pucci, Silvia Biocca, Barbara Testa

Oncotarget· March 2016

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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
Maria Rosaria D'Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Barbara Testa

BMC Med Genet· April 2015

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Simulative and experimental investigation on the cleavage site that generates the soluble human LOX-1.
Silvia Biocca, Tania Arcangeli, Elisa Tagliaferri, Barbara Testa, Giulia Vindigni

Arch Biochem Biophys· December 2013

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