Kulikowski LD - Search Results

1

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Among authors: kulikowski ld. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635

2

DNA methylation epi-signature and biological age in attention deficit hyperactivity disorder patients.

Carvalho GFDS, Costa TVMM, Nascimento AM, Wolff BM, Damasceno JG, Vieira LL, Almeida VT, Oliveira YG, Mello CB, Muszkat M, Kulikowski LD. Carvalho GFDS, et al. Among authors: kulikowski ld. Clin Neurol Neurosurg. 2023 May;228:107714. doi: 10.1016/j.clineuro.2023.107714. Epub 2023 Apr 6. Clin Neurol Neurosurg. 2023. PMID: 37054476

3

Establishment and Comprehensive Molecular Characterization of an Immortalized Glioblastoma Cell Line from a Brazilian Patient.

da Silva FF, Lupinacci FCS, Elias BDS, Beserra AO, Sanematsu P, Roffe M, Kulikowski LD, Costa FD, Santos TG, Hajj GNM. da Silva FF, et al. Among authors: kulikowski ld. Int J Mol Sci. 2023 Nov 1;24(21):15861. doi: 10.3390/ijms242115861. Int J Mol Sci. 2023. PMID: 37958846 Free PMC article.

4

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.

Kulikowski LD, Christ LA, Nogueira SI, Brunoni D, Schwartz S, Melaragno MI. Kulikowski LD, et al. Am J Med Genet A. 2006 Jan 1;140(1):82-7. doi: 10.1002/ajmg.a.31045. Am J Med Genet A. 2006. PMID: 16333825

5

Deletion 22q11.2: report of a complex meiotic mechanism of origin.

Nogueira SI, Hacker AM, Bellucco FT, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI, Emanuel BS. Nogueira SI, et al. Among authors: kulikowski ld. Am J Med Genet A. 2007 Aug 1;143A(15):1778-81. doi: 10.1002/ajmg.a.31834. Am J Med Genet A. 2007. PMID: 17603802 Free PMC article.

6

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melaragno MI. Nogueira SI, et al. Among authors: kulikowski ld. Eur J Med Genet. 2008 May-Jun;51(3):226-30. doi: 10.1016/j.ejmg.2008.02.001. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342595 Free PMC article.

7

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

de Carvalho AF, da Silva Bellucco FT, Kulikowski LD, Toralles MB, Melaragno MI. de Carvalho AF, et al. Among authors: kulikowski ld. Hum Genet. 2008 Nov;124(4):387-92. doi: 10.1007/s00439-008-0557-x. Epub 2008 Sep 7. Hum Genet. 2008. PMID: 18777129

8

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.

Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI. Kulikowski LD, et al. Am J Med Genet A. 2008 Oct 15;146A(20):2663-7. doi: 10.1002/ajmg.a.32510. Am J Med Genet A. 2008. PMID: 18798309

9

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

Belangero SI, Bellucco FT, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI. Belangero SI, et al. Among authors: kulikowski ld. Arq Bras Cardiol. 2009 Apr;92(4):307-11. doi: 10.1590/s0066-782x2009000400010. Arq Bras Cardiol. 2009. PMID: 19565140 Free article. English, Portuguese, Spanish.

10

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.

Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI. Christofolini DM, et al. Among authors: kulikowski ld. J Intellect Disabil. 2009 Sep;13(3):239-48. doi: 10.1177/1744629509348429. J Intellect Disabil. 2009. PMID: 19786505

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