Motta FL - Search Results

1

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: motta fl. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.

2

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

Motta FL, Salles MV, Costa KA, Filippelli-Silva R, Martin RP, Sallum JMF. Motta FL, et al. Sci Rep. 2017 Aug 17;7(1):8654. doi: 10.1038/s41598-017-09035-1. Sci Rep. 2017. PMID: 28819299 Free PMC article.

3

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

Salles MV, Motta FL, Dias da Silva E, Varela P, Costa KA, Filippelli-Silva R, Martin RP, Chiang JP, Pesquero JB, Sallum JMF. Salles MV, et al. Among authors: motta fl. Invest Ophthalmol Vis Sci. 2017 Nov 1;58(13):5723-5730. doi: 10.1167/iovs.17-22398. Invest Ophthalmol Vis Sci. 2017. PMID: 29114839

4

Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report.

Takitani GEDS, Azevedo AGB, Motta FL, Teixeira SH, Sallum JMF, Vessani RM. Takitani GEDS, et al. Among authors: motta fl. Arq Bras Oftalmol. 2018 Sep-Oct;81(5):437-439. doi: 10.5935/0004-2749.20180084. Arq Bras Oftalmol. 2018. PMID: 30208148 Free article.

5

Relative frequency of inherited retinal dystrophies in Brazil.

Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF. Motta FL, et al. Sci Rep. 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. Sci Rep. 2018. PMID: 30374144 Free PMC article.

6

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, Gomes CP, Pesquero JB, Sallum JMF. Motta FL, et al. Genes (Basel). 2019 Dec 24;11(1):24. doi: 10.3390/genes11010024. Genes (Basel). 2019. PMID: 31878136 Free PMC article.

7

Retinitis Pigmentosa Due to Rp1 Biallelic Variants.

Silva RS, Salles MV, Motta FL, Sallum JMF. Silva RS, et al. Among authors: motta fl. Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9. Sci Rep. 2020. PMID: 32005865 Free PMC article.

8

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.

da Palma MM, Motta FL, Gomes CP, Salles MV, Pesquero JB, Sallum JMF. da Palma MM, et al. Among authors: motta fl. Invest Ophthalmol Vis Sci. 2020 Feb 7;61(2):38. doi: 10.1167/iovs.61.2.38. Invest Ophthalmol Vis Sci. 2020. PMID: 32097478 Free PMC article.

9

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, Belfort R Jr. Sallum JMF, et al. Among authors: motta fl. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):728-752. doi: 10.1002/ajmg.c.31828. Epub 2020 Aug 31. Am J Med Genet C Semin Med Genet. 2020. PMID: 32865313

10

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.

da Palma MM, Motta FL, Salles MV, Texeira CHM, Gomes AV, Casaroli-Marano R, Sallum JMF. da Palma MM, et al. Among authors: motta fl. Genes (Basel). 2021 May 10;12(5):713. doi: 10.3390/genes12050713. Genes (Basel). 2021. PMID: 34068831 Free PMC article.

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