Publications by authors named "Maria Adelaide Caligo"

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Role of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience.
Laura Pierotti, Elena Pardi, Chiara Sardella, Simone Della Valentina, Anna Dal Lago, Maria Adelaide Caligo

J Endocrinol Invest· November 2025

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Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei-Chien Tsai, Antonella Fogli, Maria Adelaide Caligo

Am J Med Genet A· August 2025

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An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.
Piervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, Annalisa Lo Gerfo, Robert Kopajtich, Maria Adelaide Caligo

Mitochondrion· July 2025

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Diagnosis of hereditary ataxias: a real-world single center experience.
Adriana Meli, Vincenzo Montano, Giovanni Palermo, Antonella Fogli, Anna Rocchi, Maria Adelaide Caligo

J Neurol· January 2025

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The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.
Elisa Dinoi, Alessandro Prete, Chiara Sardella, Laura Pierotti, Simone Della Valentina, Maria Adelaide Caligo

Front Endocrinol (Lausanne)· November 2024

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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, Maria Adelaide Caligo

Thorax· October 2024

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Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.
Alvaro Galli, Francesca Bellè, Arcangelo Fargnoli, Maria Adelaide Caligo, Tiziana Cervelli

Int J Mol Sci· July 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, Maria Adelaide Caligo

Pediatr Pulmonol· April 2024

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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, Maria Adelaide Caligo

Genes (Basel)· November 2023

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The c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Paolo Aretini, Silvano Presciuttini, Aldo Pastore, Alvaro Galli, Sara Panepinto, Maria Adelaide Caligo

Int J Mol Sci· October 2023

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Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.
Laura Pierotti, Elena Pardi, Elisa Dinoi, Paolo Piaggi, Simona Borsari, Maria Adelaide Caligo

Front Endocrinol (Lausanne)· July 2023

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A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
Domenico Giannese, Vincenzo Montano, Piervito Lopriore, Claudia Nesti, Annalisa LoGerfo, Maria Adelaide Caligo

J Neuromuscul Dis· January 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, Maria Adelaide Caligo

Chest· December 2022

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Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
Alessandro Brancatella, Daniele Cappellani, Martin Kaufmann, Antonella Semeraro, Simona Borsari, Maria Adelaide Caligo

J Clin Endocrinol Metab· July 2022

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RAD52 influences the effect of BRCA1/2 missense variants on homologous recombination and gene reversion in Saccharomyces cerevisiae.
Samuele Lodovichi, Francesca Bellè, Alberto Mercatanti, Laura Spugnesi, Cristina Cozzani, Maria Adelaide Caligo

FEMS Yeast Res· June 2022

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A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
Vincenzo Montano, Michelangelo Mancuso, Costanza Simoncini, Francesca Torri, Lucia Chico, Maria Adelaide Caligo

J Neuromuscul Dis· May 2022

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Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
Francesca Bellè, Alberto Mercatanti, Samuele Lodovichi, Caterina Congregati, Chiara Guglielmi, Maria Adelaide Caligo

Int J Mol Sci· April 2022

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Nutrition, epigenetic markers and growth in preterm infants.
Maria Giulia Tozzi, Francesca Moscuzza, Angela Michelucci, Rosa T Scaramuzzo, Cinzia Cosini, Maria Adelaide Caligo

J Matern Fetal Neonatal Med· December 2021

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Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Daniele Cappellani, Alessandro Brancatella, Riccardo Morganti, Simona Borsari, Fulvia Baldinotti, Maria Adelaide Caligo

Eur J Endocrinol· December 2021

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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Maria Adelaide Caligo

Int J Mol Sci· July 2021

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Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Massimo Pifferi, Andrew Bush, Giuseppe Mulé, Serena Gracci, Rossella Fonnesu, Maria Adelaide Caligo

Ann Am Thorac Soc· June 2021

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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.
Silvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, Franco D'Alberton, Fulvia Baldinotti, Maria Adelaide Caligo

Front Pediatr· April 2021

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Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
Alessandro Brancatella, Daniele Cappellani, Martin Kaufmann, Simona Borsari, Paolo Piaggi, Maria Adelaide Caligo

J Clin Endocrinol Metab· March 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, Maria Adelaide Caligo

BMC Med Genet· November 2020

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Lung Function Longitudinal Study by Phenotype and Genotype in Primary Ciliary Dyskinesia.
Massimo Pifferi, Andrew Bush, Francesca Mariani, Martina Piras, Angela Michelucci, Maria Adelaide Caligo

Chest· July 2020

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