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2020 | 2 |
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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20.
Hum Genet. 2023.
PMID: 37079061
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.
Verdonk SJE, Storoni S, Micha D, van den Aardweg JG, Versacci P, Celli L, de Vries R, Zhytnik L, Kamp O, Bugiani M, Eekhoff EMW.
Verdonk SJE, et al. Among authors: celli l.
Calcif Tissue Int. 2024 Mar;114(3):210-221. doi: 10.1007/s00223-023-01171-3. Epub 2024 Jan 19.
Calcif Tissue Int. 2024.
PMID: 38243143
Free PMC article.
Review.
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'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.
Di Martino V, Mallone F, Lambiase A, Celli M, Mannocci A, Celli L, Mangiantini P, Fino P, Moramarco A.
Di Martino V, et al. Among authors: celli l.
Orphanet J Rare Dis. 2024 Apr 27;19(1):176. doi: 10.1186/s13023-024-03192-z.
Orphanet J Rare Dis. 2024.
PMID: 38678283
Free PMC article.
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Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni S, Celli L, Zhytnik L, Maasalu K, Märtson A, Kõks S, Khmyzov S, Pashenko A, Maugeri A, Zambrano A, Celli M, Eekhoff EMW, Micha D.
Storoni S, et al. Among authors: celli l.
Eur J Med Genet. 2023 Nov;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub 2023 Sep 26.
Eur J Med Genet. 2023.
PMID: 37758164
Free article.
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Polyostotic Fibrous Dysplasia Mimicking Bone Involvement in Hodgkin Lymphoma: A Pediatric Case and Literature Review.
Lapietra G, Moleti ML, Giona F, Turchetti A, Celli M, Corsi A, Zambrano A, D'Avanzo M, Celli L, Testi AM.
Lapietra G, et al. Among authors: celli l.
Acta Haematol. 2021;144(2):212-217. doi: 10.1159/000508261. Epub 2020 Jul 24.
Acta Haematol. 2021.
PMID: 32712604
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New 3D Cone Beam CT Imaging Parameters to Assist the Dentist in Treating Patients with Osteogenesis Imperfecta.
Messineo D, Luzzi V, Pepe F, Celli L, Turchetti A, Zambrano A, Celli M, Polimeni A, Ierardo G.
Messineo D, et al. Among authors: celli l.
Healthcare (Basel). 2020 Dec 10;8(4):546. doi: 10.3390/healthcare8040546.
Healthcare (Basel). 2020.
PMID: 33321783
Free PMC article.
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Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls.
Persiani P, Martini L, Ranaldi FM, Zambrano A, Celli M, Celli L, D'Eufemia P, Villani C.
Persiani P, et al. Among authors: celli l.
Injury. 2019 Jul;50 Suppl 2:S52-S56. doi: 10.1016/j.injury.2019.01.045. Epub 2019 Feb 15.
Injury. 2019.
PMID: 30827706
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