Bertola DR - Search Results

1

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.

Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA. Stephan BO, et al. Among authors: bertola dr. Clinics (Sao Paulo). 2022 Jul 23;77:100082. doi: 10.1016/j.clinsp.2022.100082. eCollection 2022. Clinics (Sao Paulo). 2022. PMID: 35882106 Free PMC article.

2

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA. Albano LM, et al. Among authors: bertola dr. Rev Hosp Clin Fac Med Sao Paulo. 2004 Apr;59(2):89-92. doi: 10.1590/s0041-87812004000200008. Epub 2004 Apr 26. Rev Hosp Clin Fac Med Sao Paulo. 2004. PMID: 15122424

3

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

4

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

5

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP. Varela MC, et al. Among authors: bertola dr. Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. doi: 10.1016/j.ejmg.2005.12.002. Epub 2006 Jan 4. Eur J Med Genet. 2006. PMID: 16829351

6

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Bertola DR, et al. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865293

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

Omodysplasia: the first reported Brazilian case.

Albano LM, Oliveira LA, Bertola DR, Mazzu JF, Kim CA. Albano LM, et al. Among authors: bertola dr. Clinics (Sao Paulo). 2007 Aug;62(4):531-4. doi: 10.1590/s1807-59322007000400023. Clinics (Sao Paulo). 2007. PMID: 17823719 Free article. No abstract available.

10

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

Kim CA, Honjo R, Bertola D, Albano L, Oliveira L, Jales S, Siqueira J, Castilho A, Balemans W, Piters E, Jennes K, Van Hul W. Kim CA, et al. Genet Test. 2008 Dec;12(4):475-9. doi: 10.1089/gte.2008.0036. Genet Test. 2008. PMID: 19072561

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