Sartorato EL - Search Results

1

Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.

Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA. Grillo AP, et al. Among authors: sartorato el. Biomed Res Int. 2015;2015:318727. doi: 10.1155/2015/318727. Epub 2015 May 17. Biomed Res Int. 2015. PMID: 26075227 Free PMC article. Clinical Trial.

2

Molecular genetics study of deafness in Brazil: 8-year experience.

de Oliveira CA, Alexandrino F, Christiani TV, Steiner CE, Cunha JL, Guerra AT, Sartorato EL. de Oliveira CA, et al. Among authors: sartorato el. Am J Med Genet A. 2007 Jul 15;143A(14):1574-9. doi: 10.1002/ajmg.a.31838. Am J Med Genet A. 2007. PMID: 17567887

3

Molecular study in Brazilian cochlear implant recipients.

Christiani TV, Alexandrino F, de Oliveira CA, Amantini RC, Bevilacqua MC, Filho OA, Porto P, Sartorato EL. Christiani TV, et al. Among authors: sartorato el. Am J Med Genet A. 2007 Jul 15;143A(14):1580-2. doi: 10.1002/ajmg.a.31778. Am J Med Genet A. 2007. PMID: 17567889

4

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

Alexandrino F, de Oliveira CA, Magalhães RF, Florence ME, de Souza EM, Sartorato EL. Alexandrino F, et al. Among authors: sartorato el. Am J Med Genet A. 2009 Feb 15;149A(4):681-4. doi: 10.1002/ajmg.a.32765. Am J Med Genet A. 2009. PMID: 19283857

5

Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.

da Silva-Costa SM, Coeli FB, Lincoln-de-Carvalho CR, Marques-de-Faria AP, Kurc M, Pereira T, Pomilio MC, Sartorato EL. da Silva-Costa SM, et al. Among authors: sartorato el. Genet Test Mol Biomarkers. 2009 Oct;13(5):701-4. doi: 10.1089/gtmb.2009.0025. Genet Test Mol Biomarkers. 2009. PMID: 19715470

6

Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.

da Silva-Costa SM, Martins FT, Pereira T, Pomilio MC, Marques-de-Faria AP, Sartorato EL. da Silva-Costa SM, et al. Among authors: sartorato el. Genet Test Mol Biomarkers. 2011 Dec;15(12):849-53. doi: 10.1089/gtmb.2011.0034. Epub 2011 Jul 5. Genet Test Mol Biomarkers. 2011. PMID: 21728791

7

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.

8

Ménière's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients.

Lopes Kde C, Sartorato EL, da Silva-Costa SM, de Macedo Adamov NS, Ganança FF. Lopes Kde C, et al. Among authors: sartorato el. Otol Neurotol. 2016 Sep;37(8):1117-21. doi: 10.1097/MAO.0000000000001136. Otol Neurotol. 2016. PMID: 27509294

9

Newborn hearing screening and genetic testing in 8974 Brazilian neonates.

Nivoloni Kde A, da Silva-Costa SM, Pomílio MC, Pereira T, Lopes Kde C, de Moraes VC, Alexandrino F, de Oliveira CA, Sartorato EL. Nivoloni Kde A, et al. Among authors: sartorato el. Int J Pediatr Otorhinolaryngol. 2010 Aug;74(8):926-9. doi: 10.1016/j.ijporl.2010.05.015. Epub 2010 Jun 9. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20538352

10

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. Wilch E, et al. Among authors: sartorato el. Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1. Clin Genet. 2010. PMID: 20236118 Free PMC article.

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