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207 results

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Page 1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Vissers LE, et al. Among authors: bertola d. PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8. PLoS Genet. 2011. PMID: 21931569 Free PMC article.
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. Among authors: bertola dr. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408
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. Among authors: bertola dr, d angelo cs. 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
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
Brito LA, Bassi CF, Masotti C, Malcher C, Rocha KM, Schlesinger D, Bueno DF, Cruz LA, Barbara LK, Bertola DR, Meyer D, Franco D, Alonso N, Passos-Bueno MR. Brito LA, et al. Among authors: bertola dr. Am J Med Genet A. 2012 Sep;158A(9):2170-5. doi: 10.1002/ajmg.a.35526. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887868
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenço NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, O'Halloran E, Magalhães TR, Fett-Conte AC, Passos-Bueno MR. Moreira DP, et al. Among authors: bertola d. PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014. PLoS One. 2014. PMID: 25255310 Free PMC article.
207 results