Publications by authors named "Veronica Bertini"

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A tough NUT carcinoma to crack.
Alessandra Celi, Rossella Bruno, Paola Vignali, Iacopo Petrini, Angelo Valetto, Veronica Bertini

Pathologica· September 2025

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22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
Veronica Bertini, Francesca Cambi, Annalisa Legitimo, Giorgio Costagliola, Rita Consolini

Genes (Basel)· January 2025

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Impact of TAS2R38 polymorphisms on nasal nitric oxide and infections in primary ciliary dyskinesia: relation to genotype.
Massimo Pifferi, Attilio Boner, Debora Maj, Angela Michelucci, Gabriele Donzelli, Veronica Bertini

Thorax· October 2024

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The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.
Massimo Pifferi, Attilio L Boner, Angela Cangiotti, Alessandro Cudazzo, Debora Maj, Veronica Bertini

Pediatr Pulmonol· April 2024

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Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.
Giorgio Costagliola, Annalisa Legitimo, Veronica Bertini, Antonino Maria Quintilio Alberio, Angelo Valetto

J Clin Med· December 2023

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In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 () in an -Negative Boy with a 46,XX Disorder of Sex Development.
Veronica Bertini, Fulvia Baldinotti, Pietro Parma, Nina Tyutyusheva, Margherita Sepich

Genes (Basel)· November 2023

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Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including .
Marly Simoncini, Miriam Violi, Angelo Valetto, Veronica Bertini, Francy Cruz-Sanabria

Front Psychiatry· November 2023

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Chromosomal alterations in sporadic medullary thyroid carcinoma and correlation with outcome.
Teresa Ramone, Cristina Romei, Raffaele Ciampi, Roberta Casalini, Angelo Valetto, Veronica Bertini

Endocr Relat Cancer· September 2023

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Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
Francesca Forli, Silvia Capobianco, Stefano Berrettini, Luca Bruschini, Silvia Romano, Veronica Bertini

Medicina (Kaunas)· February 2023

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Longitudinal Nitric Oxide Levels and Infections by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Massimo Pifferi, Attilio L Boner, Serena Gracci, Rossella Fonnesu, Debora Maj, Veronica Bertini

Chest· December 2022

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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Veronica Bertini

Prenat Diagn· December 2022

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Phenotypic Spectrum of Haploinsufficiency: Two Additional Cases and Review of the Literature.
Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini

Genes (Basel)· November 2022

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Enhancing Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Veronica Bertini, Roberta Milone, Paola Cristofani, Francesca Cambi, Chiara Bosetti

Genes (Basel)· May 2022

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Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.
Antonino Maria Quintilio Alberio, Annalisa Legitimo, Veronica Bertini, Giampiero I Baroncelli, Giorgio Costagliola

J Clin Med· April 2022

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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Veronica Bertini

Genes (Basel)· January 2022

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A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
Veronica Bertini, Cecilia Giuliani, Maria Immacolata Ferreri, Alessandro Orsini, Alice Bonuccelli

J Matern Fetal Neonatal Med· September 2021

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini

BMC Med Genet· November 2020

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The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli

Seizure· October 2019

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Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.
Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Veronica Bertini

Front Genet· July 2019

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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of and Review of the Literature.
Veronica Bertini, Angelo Valetto, Fulvia Baldinotti, Alessia Azzarà, Francesca Cambi

Mol Syndromol· May 2019

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Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome.
Veronica Bertini, Simone Gana, Alessandro Orsini, Alice Bonuccelli, Diego Peroni

Ann Lab Med· March 2019

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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, Alessandra Pansa, Laura Cardarelli, Veronica Bertini

Mol Genet Genomic Med· February 2019

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A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
Roberta Milone, Riccardo Masson, Caterina Di Cosmo, Massimo Tonacchera, Veronica Bertini

Child Neurol Open· February 2019

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Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
Fulvia Baldinotti, Tiziana Cavallaro, Eleonora Dati, Giampiero I Baroncelli, Veronica Bertini

Horm Res Paediatr· September 2018

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Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica Bertini

BMC Neurol· July 2018

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