Sartorato EL - Search Results

1

Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.

Amaral-Fernandes MS, Marcondes AM, do Amor Divino Miranda PM, Maciel-Guerra AT, Sartorato EL. Amaral-Fernandes MS, et al. Among authors: sartorato el. Mol Vis. 2011;17:3175-9. Epub 2011 Dec 7. Mol Vis. 2011. PMID: 22194643 Free PMC article.

2

Leber's hereditary optic neuropathy: clinical and molecular profile of a Brazilian sample.

Maciel-Guerra AT, Zanchetta LM, Amaral Fernandes MS, Andrade PB, do Amor Divino Miranda PM, Sartorato EL. Maciel-Guerra AT, et al. Among authors: sartorato el. Ophthalmic Genet. 2010 Sep;31(3):126-8. doi: 10.3109/13816810.2010.483721. Ophthalmic Genet. 2010. PMID: 20565249

3

Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.

Miranda PM, Matilde da Silva-Costa S, Balieiro JC, Fernandes MS, Alves RM, Guerra AT, Marcondes AM, Sartorato EL. Miranda PM, et al. Among authors: sartorato el. Mol Vis. 2016 Aug 13;22:1024-35. eCollection 2016. Mol Vis. 2016. PMID: 27582625 Free PMC article.

4

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).

Martins FTA, Miranda PMDAD, Fernandes MSA, Maciel-Guerra AT, Sartorato EL. Martins FTA, et al. Among authors: sartorato el. Mol Vis. 2017 Jul 21;23:495-503. eCollection 2017. Mol Vis. 2017. PMID: 28761322 Free PMC article.

5

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness.

Alexandrino F, Oliveira CA, Reis FC, Maciel-Guerra AT, Sartorato EL. Alexandrino F, et al. Among authors: sartorato el. J Appl Genet. 2004;45(2):249-54. J Appl Genet. 2004. PMID: 15131355

6

Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.

Oliveira CA, Maciel-Guerra AT, Sartorato EL. Oliveira CA, et al. Among authors: sartorato el. Clin Genet. 2002 May;61(5):354-8. doi: 10.1034/j.1399-0004.2002.610506.x. Clin Genet. 2002. PMID: 12081719

7

Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians.

Oliveira CA, Alexandrino F, Abe-Sandes K, Silva WA Jr, Maciel-Guerra AT, Magna LA, Sartorato EL. Oliveira CA, et al. Among authors: sartorato el. Hum Biol. 2004 Apr;76(2):313-6. doi: 10.1353/hub.2004.0035. Hum Biol. 2004. PMID: 15359540

8

Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.

Alves RM, da Silva Costa SM, do Amôr Divino Miranda PM, Ramos PZ, Marconi TG, Santos Oliveira G, Castilho AM, Sartorato EL. Alves RM, et al. Among authors: sartorato el. BMC Med Genet. 2016 May 26;17(1):41. doi: 10.1186/s12881-016-0303-5. BMC Med Genet. 2016. PMID: 27230773 Free PMC article.

9

Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling.

Hoffmann FMR, Rodrigues PF, Dos Santos TMM, Sartorato EL, Maciel-Guerra AT, Matas CG, de Moraes VCS. Hoffmann FMR, et al. Among authors: sartorato el. Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):698-702. doi: 10.1016/S1808-8694(15)31379-3. Braz J Otorhinolaryngol. 2008. PMID: 19082351 Free PMC article.

10

Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions.

Oliveira CA, Pimpinati CJ, Alexandrino F, Magna LA, Maciel-Guerra AT, Sartorato EL. Oliveira CA, et al. Among authors: sartorato el. Genet Test. 2007 Spring;11(1):1-3. doi: 10.1089/gte.2006.9994. Genet Test. 2007. PMID: 17394388

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