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Page 1
Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.
Faria RS, de Oliveira CP, da Costa MM, da S Rosa MT, Córdoba MS, Pic-Taylor A, Ferrari I, de Oliveira SF, Mazzeu JF. Faria RS, et al. Among authors: mazzeu jf. Cytogenet Genome Res. 2016;148(2-3):174-8. doi: 10.1159/000445853. Epub 2016 Jun 2. Cytogenet Genome Res. 2016. PMID: 27251740
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD, Paula MG, Bürger MC, de Oliveira AG, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola D, Yamamoto GL, Passos-Bueno MR, Campos GDS, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, de Pina-Neto JM, Scapulatempo-Neto C, Milanezi F, Rosenberg C. Mazzonetto PC, et al. Among authors: mazzeu jf. Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25. Am J Med Genet A. 2024. PMID: 38924610
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
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.
Partial 1q Duplications and Associated Phenotype.
Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca AC, Dos Santos MC, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF. Morris ML, et al. Among authors: mazzeu jf. Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 4. Mol Syndromol. 2016. PMID: 27022331 Free PMC article.
67 results