Kulikowski LD - Search Results

1

Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.

Almeida VT, Chehimi SN, Carvalho GFS, Gasparini Y, Nascimento AM, Vieira LL, Wolff BM, Montenegro MM, Kulikowski LD. Almeida VT, et al. Among authors: kulikowski ld. BMC Res Notes. 2024 Apr 29;17(1):121. doi: 10.1186/s13104-024-06734-7. BMC Res Notes. 2024. PMID: 38679724 Free PMC article.

2

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Mendonça RH, et al. Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3. Ann Neurol. 2019. PMID: 31502291 No abstract available.

3

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

de Queiroz Soares DC, Dutra RL, D'angioli Costa Quaio CR, Melaragno MI, Kulikowski LD, Torres LC, Kim CA. de Queiroz Soares DC, et al. Among authors: kulikowski ld. Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6. Clin Immunol. 2012. PMID: 22926078 No abstract available.

4

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

Honjo RS, Dutra RL, Nunes MM, Gomy I, Kulikowski LD, Jehee FS, Kim CA. Honjo RS, et al. Among authors: kulikowski ld. J Genet Genomics. 2012 Oct 20;39(10):571-4. doi: 10.1016/j.jgg.2012.07.001. Epub 2012 Jul 31. J Genet Genomics. 2012. PMID: 23089367 No abstract available.

5

Cytogenetic instability of dental pulp stem cell lines.

Duailibi MT, Kulikowski LD, Duailibi SE, Lipay MV, Melaragno MI, Ferreira LM, Vacanti JP, Yelick PC. Duailibi MT, et al. Among authors: kulikowski ld. J Mol Histol. 2012 Feb;43(1):89-94. doi: 10.1007/s10735-011-9373-z. Epub 2011 Nov 23. J Mol Histol. 2012. PMID: 22109772

6

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.

Torres LC, Soares DC, Kulikowski LD, Franco JF, Kim CA. Torres LC, et al. Among authors: kulikowski ld. Clin Immunol. 2014 Oct;154(2):100-4. doi: 10.1016/j.clim.2014.07.001. Epub 2014 Jul 16. Clin Immunol. 2014. PMID: 25038527

7

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

Zanardo ÉA, Piazzon FB, Dutra RL, Dias AT, Montenegro MM, Novo-Filho GM, Costa TV, Nascimento AM, Kim CA, Kulikowski LD. Zanardo ÉA, et al. Among authors: kulikowski ld. Mol Genet Genomics. 2014 Dec;289(6):1037-43. doi: 10.1007/s00438-014-0876-7. Epub 2014 Jul 2. Mol Genet Genomics. 2014. PMID: 24985706

8

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Costa LS, Zandona-Teixeira AC, Montenegro MM, Dias AT, Dutra RL, Honjo RS, Bertola DR, Kulikowski LD, Kim CA. Costa LS, et al. Among authors: kulikowski ld. Mol Cytogenet. 2015 Jun 26;8:43. doi: 10.1186/s13039-015-0142-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26120363 Free PMC article.

9

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD. Dutra RL, et al. Among authors: kulikowski ld. Am J Med Genet A. 2015 Dec;167A(12):3197-203. doi: 10.1002/ajmg.a.37360. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420477

10

Post-mortem cytogenomic investigations in patients with congenital malformations.

Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Dias AT, et al. Among authors: kulikowski ld. Exp Mol Pathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003. Epub 2016 Jul 20. Exp Mol Pathol. 2016. PMID: 27450648

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