Publications by authors named "Barbara Pasini"

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Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Chiara Anna Fiasconaro, Alice Carbone, Silvia Giordano, Francesco Cavallo, Paolo Fava, Barbara Pasini

Diseases· June 2025

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LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Giada Cuconato, Ilaria Palmieri, Marco Percetti, Serena Pagliarani, Sara Tenace, Barbara Pasini

Parkinsonism Relat Disord· May 2025

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MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY.
Francesco Gelormini, Veronica Vallino, Mark P Breazzano, Barbara Pasini, Michele Reibaldi

Retin Cases Brief Rep· March 2025

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Prevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.
Martina Tetti, Jacopo Burrello, Marguerite Hureaux, Clarisse Billon, Eric Clauser, Barbara Pasini

Hypertension· November 2024

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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing-Jian Feng, Courtney Carroll, Barbara Pasini

Cancer Med· August 2024

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The Impact of the G6PD Gene Mutations in Patients with Chronic Hepatitis C Infection Treated with Direct-Acting Antivirals: A Multicenter Observational Study.
Carlo Smirne, Maria Grazia Crobu, Chiara Gerevini, Alessandro Maria Berton, Rachele Rapetti, Barbara Pasini

Genes (Basel)· August 2024

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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, Lisa Pavinato, Enza Ferrero, Barbara Pasini

HGG Adv· July 2024

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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Barbara Pasini

Eur J Hum Genet· November 2023

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Identification of a robust DNA methylation signature for Fanconi anemia.
Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Barbara Pasini

Am J Hum Genet· November 2023

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Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients.
Laura Cristina Gironi, Elia Esposto, Francesca Zottarelli, Roberto Giorgione, Pamela Farinelli, Barbara Pasini

Melanoma Res· October 2023

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Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.
Ilaria Persico, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini

Front Genet· September 2023

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Barbara Pasini

Clin Cancer Res· August 2023

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Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
Gabriele Roccuzzo, Silvia Giordano, Thomas Granato, Francesco Cavallo, Luca Mastorino, Barbara Pasini

Cancers (Basel)· July 2023

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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Maria Pia Leone, Silvia Morlino, Grazia Nardella, Riccardo Pracella, Daniela Giachino, Barbara Pasini

Hum Genet· June 2023

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A Novel Variant Leading to Posterior Cortical Atrophy: A Case Report.
Fausto Roveta, Andrea Marcinnò, Alberto Grassini, Fabio Ferrandes, Aurora Cermelli, Barbara Pasini

J Alzheimers Dis Rep· May 2023

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BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: a novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome.
Francesco Cavallo, Gabriele Roccuzzo, Martina Merli, Gianluca Avallone, Lamberto Zocchi, Barbara Pasini

Melanoma Res· October 2022

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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Barbara Pasini

Genet Med· October 2022

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From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma.
Mirko Parasiliti-Caprino, Fabio Bioletto, Chiara Lopez, Martina Bollati, Francesca Maletta, Barbara Pasini

Biomedicines· June 2022

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Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population.
Valentina Elisabetta Bounous, Elisabetta Robba, Stefania Perotto, Barbara Pasini, Nicoletta Tomasi Cont

J Clin Med· June 2022

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Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.
Enrico Berrino, Roberto Filippi, Clara Visintin, Serena Peirone, Elisabetta Fenocchio, Barbara Pasini

NPJ Precis Oncol· March 2022

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Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery.
Mirko Parasiliti-Caprino, Fabio Bioletto, Chiara Lopez, Francesca Maletta, Marina Caputo, Barbara Pasini

Eur J Endocrinol· February 2022

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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Barbara Pasini

Genet Med· January 2022

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Cell-free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification.
Enza Pavanello, Andrea Sciarrone, Varvara Guaraldo, Elisabetta Muccinelli, Valentina Pia Ciuffreda, Barbara Pasini

Prenat Diagn· December 2021

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Analysis of Italian Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Gisella Figlioli, Arcangela De Nicolo, Irene Catucci, Siranoush Manoukian, Bernard Peissel, Barbara Pasini

Cancers (Basel)· January 2021

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Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit.
Jacopo Burrello, Silvia Monticone, Isabel Losano, Giovanni Cavaglià, Fabrizio Buffolo, Barbara Pasini

Hypertension· April 2020

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