Publications by authors named "Maria Gnoli"

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Pain intensity in patients with genetic metabolic bone diseases: an observational study.
Mattia Morri, Morena Tremosini, Cristiana Forni, Elena Pedrini, Alice Moroni, Maria Gnoli

Bone· February 2026

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Matrix-directed therapy losartan to identify the effect on the bone resorption marker carboxy-terminal crosslink of type I collagen telopeptide (CTX) in older adolescents and adults with osteogenesis imperfecta recruited from secondary care sites: the 'MOI-A' study; a randomised, phase 2/pilot, dose-escalating trial.
Mahboobeh Haji Sadeghi, Judith Cohen, Bronwen Williams, Amy Wilkinson, Sarah Sumpter, Maria Gnoli

BMJ Open· December 2025

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Pain in patients with multiple inherited osteochondromas: Incidence and potential prognostic factors. A retrospective cohort study.
Morena Tremosini, Mattia Morri, Cristiana Forni, Elena Pedrini, Marina Mordenti, Maria Gnoli

J Bone Oncol· June 2025

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Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New -Related Phenotype.
Alice Moroni, Elena Pedrini, Morena Tremosini, Alessia Di Cecco, Dario Cocciadiferro, Maria Gnoli

Int J Mol Sci· April 2025

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Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.
Antonio Mazzotti, Elena Artioli, Evelise Brizola, Alice Moroni, Morena Tremosini, Maria Gnoli

Genes (Basel)· November 2024

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A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
Isabella Bartolotti, Klaudia Sobul, Serena Corsini, Davide Scognamiglio, Alice Moroni, Maria Gnoli

Genes (Basel)· September 2024

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Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study.
Manila Boarini, Morena Tremosini, Alessia Di Cecco, Maria Gnoli, Evelise Brizola

Qual Life Res· May 2024

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Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.
Alice Moroni, Evelise Brizola, Alessia Di Cecco, Morena Tremosini, Marta Sergiampietri, Maria Gnoli

Eur J Med Genet· February 2024

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Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista

Orphanet J Rare Dis· February 2024

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Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.
Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli

Front Endocrinol (Lausanne)· January 2024

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Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study.
Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni

BMC Health Serv Res· November 2023

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Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review.
Maria Gnoli, Evelise Brizola, Morena Tremosini, Alessia Di Cecco, Luca Sangiorgi

Int J Mol Sci· May 2023

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An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease.
Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza

Front Endocrinol (Lausanne)· July 2022

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Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases.
Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Maria Gnoli

Front Pharmacol· June 2022

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Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival.
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Maria Gnoli

Orphanet J Rare Dis· February 2022

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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.
Marina Mordenti, Maria Gnoli, Manila Boarini, Giovanni Trisolino, Andrea Evangelista

Am J Med Genet A· November 2021

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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli

Front Genet· May 2021

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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.
Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli

Clin Case Rep· February 2021

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The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients.
Marina Mordenti, Fei Shih, Manila Boarini, Elena Pedrini, Maria Gnoli

Bone· October 2020

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi

Mol Genet Genomic Med· September 2020

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Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?
Ambra Di Altobrando, Iria Neri, Carlotta Gurioli, Cosimo Misciali, Carlotta Baraldi, Maria Gnoli

J Dermatol· September 2020

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Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Maria Gnoli, Eric Lodewijk Staals, Laura Campanacci, Maria Francesca Bedeschi, Flavio Faletra

Calcif Tissue Int· August 2019

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Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Margherita Maioli, Maria Gnoli, Manila Boarini, Morena Tremosini, Anna Zambrano

Eur J Hum Genet· July 2019

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Tumor Syndromes That Include Bone Tumors: An Update.
Maria Gnoli, Francesca Ponti, Luca Sangiorgi

Surg Pathol Clin· September 2017

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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Maria Gnoli

Int J Mol Sci· September 2017

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