Mazzeu JF - Search Results

1

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.

2

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG. Mazzeu JF, et al. Clin Genet. 2010 Apr;77(4):404-7. doi: 10.1111/j.1399-0004.2009.01355.x. Epub 2010 Jan 20. Clin Genet. 2010. PMID: 20095987 No abstract available.

3

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.

4

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

Secchi LA, Mazzeu JF, Córdoba MS, Ferrari I, Ramos HE, Neves Fde A. Secchi LA, et al. Among authors: mazzeu jf. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):564-9. doi: 10.1590/s0004-27302012000800017. Arq Bras Endocrinol Metabol. 2012. PMID: 23295299

5

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.

6

Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome.

Queiroz LB, Lima BD, Mazzeu JF, Camargo R, Córdoba MS, Q Magalhães I, Martins-de-Sá C, Ferrari I. Queiroz LB, et al. Among authors: mazzeu jf. Genet Mol Res. 2013 Oct 18;12(4):4630-8. doi: 10.4238/2013.October.18.1. Genet Mol Res. 2013. PMID: 24222239 Free article.

7

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.

Dos Santos PA, de Oliveira SF, Freitas EL, Safatle HP, Rosenberg C, Ferrari I, Mazzeu JF. Dos Santos PA, et al. Among authors: mazzeu jf. Am J Med Genet A. 2014 Feb;164A(2):551-3. doi: 10.1002/ajmg.a.36231. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311469 No abstract available.

8

Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.

da Rocha NB, dos Santos PA, Safatle HP, de Melo RM, Pereira RW, de Oliveira SF, Pic-Taylor A, Ferrari I, Mazzeu JF. da Rocha NB, et al. Among authors: mazzeu jf. Am J Med Genet A. 2014 Dec;164A(12):3206-8. doi: 10.1002/ajmg.a.36768. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25256661 No abstract available.

9

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.

Uehara DT, Freitas ÉL, Alves LU, Mazzeu JF, Auricchio MT, Tabith A Jr, Monteiro ML, Rosenberg C, Mingroni-Netto RC. Uehara DT, et al. Among authors: mazzeu jf. Hum Genome Var. 2015 Oct 29;2:15038. doi: 10.1038/hgv.2015.38. eCollection 2015. Hum Genome Var. 2015. PMID: 27081546 Free PMC article.

10

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

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