Kulikowski LD - Search Results

1

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.

2

Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.

Candelaria GTP, Antunes AA, Pastorino AC, Dorna MB, Zanardo EA, Dias AT, Sugayama SMM, Odone-Filho V, Kulikowski LD, Garanito MP. Candelaria GTP, et al. Among authors: kulikowski ld. J Pediatr Genet. 2021 Aug 20;12(4):348-351. doi: 10.1055/s-0041-1733948. eCollection 2023 Dec. J Pediatr Genet. 2021. PMID: 38162163 Free PMC article.

3

The interaction between polygenic risk score and trauma affects the likelihood of post-traumatic stress disorder in female victims of sexual assault.

Bugiga AVG, Carvalho CM, Oliveira AM, Coimbra BM, Chehimi SN, Zanardo EA, Kulikowski LD, Mello AF, Ota VK, Mello MF, Belangero SI. Bugiga AVG, et al. Among authors: kulikowski ld. Braz J Psychiatry. 2024;46:e20233335. doi: 10.47626/1516-4446-2023-3335. Epub 2024 Mar 11. Braz J Psychiatry. 2024. PMID: 38467473 Free PMC article.

4

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

5

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.

6

Genetic profile of Brazilian patients with LAMA2-related dystrophies.

Camelo CG, Moreno CAM, Artilheiro MDC, Fonseca ATQM, Gurgel Gianetti J, Barbosa AV, Donis KC, Saute JAM, Pessoa A, Van der Linden H Jr, Gonçalves ARA, Kulikowski LD, Kok F, Zanoteli E. Camelo CG, et al. Among authors: kulikowski ld. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747280

7

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

8

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.

9

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.

10

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

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