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Page 1
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS. Monteiro RAC, et al. Among authors: jehee fs. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. Mol Syndromol. 2017. PMID: 28878606 Free PMC article.
Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.
Vianna GS, Freitas ML, Oliveira VT, Pietra RX, Gonçalves MD, Rocha PP, Monteiro RA, Ferreira LC, Xavier RR, Carvalho AM, Lima PR, Monteiro MA, Mateo EC, Giannetti JG, César GD, Lima JS, Medeiros PF, Jehee FS. Vianna GS, et al. Among authors: jehee fs. Mol Syndromol. 2016 Nov;7(6):329-336. doi: 10.1159/000450631. Epub 2016 Nov 1. Mol Syndromol. 2016. PMID: 27920636 Free PMC article.
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics; White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Jehee FS, et al. Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631899 Free PMC article.
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Among authors: jehee fs. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810
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: jehee fs. 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. 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
36 results