Jorge AAL - Search Results

1

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: jorge aal. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.

2

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB. Jorge AA, et al. Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5. doi: 10.1111/j.1365-2265.2006.02698.x. Clin Endocrinol (Oxf). 2007. PMID: 17201812

3

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. Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192. Genet Test Mol Biomarkers. 2010. PMID: 20578946

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. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22. doi: 10.1590/s0004-27302010000800009. Arq Bras Endocrinol Metabol. 2010. PMID: 21340158

5

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

Quaio CR, Carvalho JF, da Silva CA, Bueno C, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Quaio CR, et al. Am J Med Genet A. 2012 May;158A(5):1077-82. doi: 10.1002/ajmg.a.35290. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488759

6

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. 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

7

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. 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

8

Tegumentary manifestations of Noonan and Noonan-related syndromes.

Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Quaio CR, et al. Clinics (Sao Paulo). 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03. Clinics (Sao Paulo). 2013. PMID: 24037001 Free PMC article.

9

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA. Canton AP, et al. Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30. Eur J Endocrinol. 2014. PMID: 24878679

10

Further evidence of the importance of RIT1 in Noonan syndrome.

Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Bertola DR, et al. Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25124994

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