Passos-Bueno MR - Search Results

1

Genetics and genomics in Brazil: a promising future.

Passos-Bueno MR, Bertola D, Horovitz DD, de Faria Ferraz VE, Brito LA. Passos-Bueno MR, et al. Mol Genet Genomic Med. 2014 Jul;2(4):280-91. doi: 10.1002/mgg3.95. Mol Genet Genomic Med. 2014. PMID: 25077170 Free PMC article. No abstract available.

2

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408

3

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1912-8. doi: 10.1002/ajmg.a.31863. Am J Med Genet A. 2007. PMID: 17632770

4

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720

5

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL. de Alencastro G, et al. J Med Genet. 2008 Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11. J Med Genet. 2008. PMID: 18550699

6

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2009 Jun;149A(6):1319-22. doi: 10.1002/ajmg.a.32849. Am J Med Genet A. 2009. PMID: 19449419 No abstract available.

7

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.

Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos-Bueno MR. Bertola D, et al. Am J Med Genet A. 2010 Oct;152A(10):2599-603. doi: 10.1002/ajmg.a.33609. Am J Med Genet A. 2010. PMID: 20814951

8

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR. Jehee FS, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. doi: 10.1016/j.ejmg.2011.03.007. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21457803 Free article.

9

Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.

Bertola D, Aguena M, Yamamoto G, Ae Kim C, Passos-Bueno MR. Bertola D, et al. Am J Med Genet A. 2011 Jun;155A(6):1483-6. doi: 10.1002/ajmg.a.33989. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567920 No abstract available.

10

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.

Brito LA, Cruz LA, Rocha KM, Barbara LK, Silva CB, Bueno DF, Aguena M, Bertola DR, Franco D, Costa AM, Alonso N, Otto PA, Passos-Bueno MR. Brito LA, et al. Am J Med Genet A. 2011 Jul;155A(7):1581-7. doi: 10.1002/ajmg.a.34036. Epub 2011 Jun 2. Am J Med Genet A. 2011. PMID: 21638763

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