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PROM1 gene variations in Brazilian patients with macular dystrophy.
Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM. Salles MV, et al. Among authors: pesquero jb. Ophthalmic Genet. 2017 Jan-Feb;38(1):39-42. doi: 10.1080/13816810.2016.1275022. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095140
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB. Varela P, et al. Among authors: pesquero jb. Orphanet J Rare Dis. 2020 Jan 29;15(1):30. doi: 10.1186/s13023-019-1274-3. Orphanet J Rare Dis. 2020. PMID: 31996269 Free PMC article.
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Gomes CP, Marins MM, Motta FL, Kyosen SO, Curiati MA, D'Almeida V, Martins AM, Pesquero JB. Gomes CP, et al. Among authors: pesquero jb. Front Genet. 2020 Mar 18;10:1383. doi: 10.3389/fgene.2019.01383. eCollection 2019. Front Genet. 2020. PMID: 32256517 Free PMC article.
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: pesquero jb. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898
Novel GAA mutations in patients with Pompe disease.
Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: pesquero jb. Gene. 2015 Apr 25;561(1):124-31. doi: 10.1016/j.gene.2015.02.023. Epub 2015 Feb 12. Gene. 2015. PMID: 25681614
A new mutation in PYGM causing McArdle disease in a Brazilian patient.
Gomes CP, da Silva AMS, Zanoteli E, Pesquero JB. Gomes CP, et al. Among authors: pesquero jb. Acta Neurol Belg. 2020 Jun;120(3):705-707. doi: 10.1007/s13760-019-01159-7. Epub 2019 Jun 7. Acta Neurol Belg. 2020. PMID: 31175620 No abstract available.
309 results