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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
López-Gallardo E, Cammarata-Scalisi F, Emperador S, Hernández-Ainsa C, Habbane M, Vela-Sebastián A, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Clin Genet. 2020 May;97(5):731-735. doi: 10.1111/cge.13701. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31912494
[Pearson syndrome. Case report].
Cammarata-Scalisi F, López-Gallardo E, Emperador S, Ruiz-Pesini E, Da Silva G, Camacho N, Montoya J. Cammarata-Scalisi F, et al. Invest Clin. 2011 Sep;52(3):261-7. Invest Clin. 2011. PMID: 21950197 Spanish.
A deep intronic SMARCB1 variant associated with schwannomatosis.
Smith MJ, Bowers NL, Banks C, Coates-Brown R, Morris KA, Ewans L, Wilson M, Pinner J, Bhaskar SS, Cammarata-Scalisi F, Wallace AJ, Evans DGR. Smith MJ, et al. Clin Genet. 2020 Feb;97(2):376-377. doi: 10.1111/cge.13637. Epub 2019 Sep 9. Clin Genet. 2020. PMID: 31502250 No abstract available.
[Clinical and molecular study of the Noonan syndrome].
Cammarata-Scalisi F, Neri G, Pomponi MG, Mancano G, Da Silva G, Avendaño A, Lacruz-Rengel MA, Stock F, Sosa A. Cammarata-Scalisi F, et al. Invest Clin. 2012 Dec;53(4):395-401. Invest Clin. 2012. PMID: 23513489 Spanish.
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL. Caparros-Martin JA, et al. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116328 Free PMC article.
65 results