Bertola DR - Search Results

1

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Malaquias AC, Brasil AS, Pereira AC, Arnhold IJ, Mendonca BB, Bertola DR, Jorge AA. Malaquias AC, et al. Among authors: bertola dr. Am J Med Genet A. 2012 Nov;158A(11):2700-6. doi: 10.1002/ajmg.a.35519. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887833

2

Noonan syndrome: a clinical and genetic study of 31 patients.

Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. Bertola DR, et al. Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5):147-50. doi: 10.1590/s0041-87811999000500003. Rev Hosp Clin Fac Med Sao Paulo. 1999. PMID: 10788835

3

Cardiac findings in 31 patients with Noonan's syndrome.

Bertola DR, Kim CA, Sugayama SM, Albano LM, Wagenführ J, Moysés RL, Gonzalez CH. Bertola DR, et al. Arq Bras Cardiol. 2000 Nov;75(5):409-12. doi: 10.1590/s0066-782x2000001100005. Arq Bras Cardiol. 2000. PMID: 11080752 Free article.

4

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Bertola DR, Kim CA, Pereira AC, Mota GF, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhães RP, Gonzalez CH. Bertola DR, et al. Am J Med Genet. 2001 Jan 22;98(3):230-4. doi: 10.1002/1096-8628(20010122)98:3<230::aid-ajmg1080>3.0.co;2-k. Am J Med Genet. 2001. PMID: 11169560

5

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE. Bertola DR, et al. Am J Med Genet A. 2004 Nov 1;130A(4):378-83. doi: 10.1002/ajmg.a.30270. Am J Med Genet A. 2004. PMID: 15384080

6

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Bertola DR, et al. Am J Med Genet A. 2005 Jul 30;136(3):242-5. doi: 10.1002/ajmg.a.30813. Am J Med Genet A. 2005. PMID: 15948193

7

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE. Bertola DR, et al. Genet Test. 2006 Fall;10(3):186-91. doi: 10.1089/gte.2006.10.186. Genet Test. 2006. PMID: 17020470

8

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Bertola DR, Pereira AC, Brasil AS, Albano LMJ, Kim CA, Krieger JE. Bertola DR, et al. J Hum Genet. 2007;52(6):521-526. doi: 10.1007/s10038-007-0146-1. Epub 2007 Apr 28. J Hum Genet. 2007. PMID: 17468812

9

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR. Brasil AS, et al. Among authors: bertola dr. Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192. Genet Test Mol Biomarkers. 2010. PMID: 20578946

10

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. Brasil AS, et al. Among authors: bertola dr. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22. doi: 10.1590/s0004-27302010000800009. Arq Bras Endocrinol Metabol. 2010. PMID: 21340158

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