Sartorato EL - Search Results

1

Glycogen storage disease type Ia: molecular study in Brazilian patients.

de C Reis F, Caldas HC, Norato DY, Schwartz IV, Giugliani R, Burin MG, Sartorato EL. de C Reis F, et al. Among authors: sartorato el. J Hum Genet. 2001;46(3):146-9. doi: 10.1007/s100380170102. J Hum Genet. 2001. PMID: 11310582

2

Molecular findings in Brazilian patients with osteogenesis imperfecta.

Reis FC, Alexandrino F, Steiner CE, Norato DY, Cavalcanti DP, Sartorato EL. Reis FC, et al. Among authors: sartorato el. J Appl Genet. 2005;46(1):105-8. J Appl Genet. 2005. PMID: 15741671

3

A novel mutation in a Brazilian patient with glycogen storage disease type 1a.

Sartorato EL, Reis FC, Norato DY, Hackel C. Sartorato EL, et al. J Inherit Metab Dis. 1998 Jun;21(4):447. doi: 10.1023/a:1005391600145. J Inherit Metab Dis. 1998. PMID: 9700613 No abstract available.

4

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

5

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

6

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

7

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

8

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

9

Connexin 26 35delG does not represent a mutational hotspot.

Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. Rothrock CR, et al. Among authors: sartorato el. Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9. Hum Genet. 2003. PMID: 12684873

10

Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.

Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE. Scherrer DZ, et al. Among authors: sartorato el. Am J Med Genet A. 2008 Nov 1;146A(21):2740-5. doi: 10.1002/ajmg.a.32345. Am J Med Genet A. 2008. PMID: 18819152

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