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Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1090-1100

2019

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Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9416

2023

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Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

BMC health services research, 2023-11, Vol.23 (1), p.1-1278, Article 1278

2023

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Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.63-63, Article 63

2024

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Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.74-74, Article 74

2022

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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

Frontiers in endocrinology (Lausanne), 2022-06, Vol.13, p.874126-874126

2022

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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Frontiers in genetics, 2021-05, Vol.12

2021

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Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Frontiers in endocrinology (Lausanne), 2024-01, Vol.14, p.1299232-1299232

2024

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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

Frontiers in pharmacology, 2022-06, Vol.13, p.785705-785705

2022

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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

International journal of molecular sciences, 2017-09, Vol.18 (10), p.2071

2017

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Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

Journal of dermatology, 2020-09, Vol.47 (9), p.1063-1066

2020

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1353-n/a

2020

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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Clinical case reports, 2021-02, Vol.9 (2), p.922-926

2021

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The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients

Bone (New York, N.Y.), 2020-10, Vol.139, p.115499-115499, Article 115499

2020

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Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Orphanet journal of rare diseases, 2009-11, Vol.4 (1), p.24-24, Article 24

2009

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Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature

European journal of medical genetics, 2024-02, Vol.67, p.104904-104904, Article 104904

2024

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Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

Quality of life research, 2024-05, Vol.33 (5), p.1323-1334

2024

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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3466-3475

2021

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Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Calcified tissue international, 2019-08, Vol.105 (2), p.215-221

2019

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Tumor Syndromes That Include Bone Tumors: An Update

Surgical pathology clinics, 2017-09, Vol.10 (3), p.749-764

2017

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Tumor Syndromes That Include Bone Tumors

Surgical pathology clinics, 2017-09, Vol.10 (3), p.749-764

2017

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Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations

Familial cancer, 2016-10, Vol.15 (4), p.635-643

2016

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Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Italian journal of pediatrics, 2015-08, Vol.41 (1), p.53-53, Article 53

2015

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Skeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Osteochondromas as example/paradigm

Italian journal of pediatrics, 2014-08, Vol.40 (S1), p.A8-A8, Article A8

2014

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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Frontiers in genetics, 2021, Vol.12, p.640558-640558

2021

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Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review

Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Tumor Syndromes That Include Bone Tumors: An Update

Tumor Syndromes That Include Bone Tumors

Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations

Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Skeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Osteochondromas as example/paradigm

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

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