Bertola DR - Search Results

1

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H. Jesus AA, et al. Among authors: bertola dr. Arthritis Rheum. 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588. Arthritis Rheum. 2011. PMID: 22127713 Free PMC article.

2

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Carvalho E, et al. Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663181

3

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

4

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

5

Ocular manifestations of Noonan syndrome.

Marin Lda R, da Silva FT, de Sá LC, Brasil AS, Pereira A, Furquim IM, Kim CA, Bertola DR. Marin Lda R, et al. Among authors: bertola dr. Ophthalmic Genet. 2012 Mar;33(1):1-5. doi: 10.3109/13816810.2011.593606. Epub 2011 Aug 4. Ophthalmic Genet. 2012. PMID: 21815719

6

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. Bertola D, et al. Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Am J Med Genet A. 2017. PMID: 28211982 Review.

7

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. J Hum Genet. 2019 Sep;64(9):955-960. doi: 10.1038/s10038-019-0631-3. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213653

8

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

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

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.

Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. Brasil AS, et al. Among authors: bertola dr. Am J Med Genet A. 2012 May;158A(5):1178-84. doi: 10.1002/ajmg.a.35270. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488932

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