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Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients.
de Carvalho-Siqueira GQ, Ananina G, de Souza BB, Borges MG, Ito MT, da Silva-Costa SM, de Farias Domingos I, Falcão DA, Lopes-Cendes I, Bezerra MAC, da Silva Araújo A, Lucena-Araújo AR, de Souza Gonçalves M, Saad STO, Costa FF, de Melo MB. de Carvalho-Siqueira GQ, et al. Exp Biol Med (Maywood). 2019 Aug;244(11):932-939. doi: 10.1177/1535370219849592. Epub 2019 May 12. Exp Biol Med (Maywood). 2019. PMID: 31079484 Free PMC article.
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG, Torres FR, Azevedo PC, Amaral TP, Lopes-Cendes I, D'Abreu A. Piovesana LG, et al. Acta Neurol Scand. 2017 Feb;135(2):183-188. doi: 10.1111/ane.12579. Epub 2016 Mar 4. Acta Neurol Scand. 2017. PMID: 26940431
Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.
Avansini SH, Torres FR, Vieira AS, Dogini DB, Rogerio F, Coan AC, Morita ME, Guerreiro MM, Yasuda CL, Secolin R, Carvalho BS, Borges MG, Almeida VS, Araújo PAOR, Queiroz L, Cendes F, Lopes-Cendes I. Avansini SH, et al. Ann Neurol. 2018 Mar;83(3):623-635. doi: 10.1002/ana.25187. Epub 2018 Mar 10. Ann Neurol. 2018. PMID: 29461643 Free PMC article.
Family-based association study for bipolar affective disorder.
Secolin R, Banzato CE, Oliveira MC, Bittar MF, Santos ML, Dalgalarrondo P, Lopes-Cendes I. Secolin R, et al. Psychiatr Genet. 2010 Jun;20(3):126-9. doi: 10.1097/YPG.0b013e32833a2050. Psychiatr Genet. 2010. PMID: 20414141
276 results