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Page 1
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: mazzeu jf. 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: mazzeu jf. 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
Chromosome imbalances in syndromic hearing loss.
Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: mazzeu jf. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA. Praxedes LA, et al. Among authors: mazzeu jf. Mol Syndromol. 2010 Sep;1(3):133-135. doi: 10.1159/000319976. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031083 Free PMC article.
Complex phenotype associated with 17q21.31 microdeletion.
Dornelles-Wawruk H, Pic-Taylor A, Rosenberg C, Krepischi AC, Safatle HP, Ferrari I, Mazzeu JF. Dornelles-Wawruk H, et al. Among authors: mazzeu jf. Mol Syndromol. 2013 Sep;4(6):297-301. doi: 10.1159/000354120. Epub 2013 Aug 21. Mol Syndromol. 2013. PMID: 24167466 Free PMC article.
64 results