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A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
Giuffrida FM, Calliari LE, Manna TD, Ferreira JG, Saddi-Rosa P, Kunii IS, Furuzawa GK, Dias-da-Silva MR, Reis AF. Giuffrida FM, et al. Among authors: furuzawa gk. Diabetes Res Clin Pract. 2013 May;100(2):e42-5. doi: 10.1016/j.diabres.2013.01.029. Epub 2013 Feb 19. Diabetes Res Clin Pract. 2013. PMID: 23433541
M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.
Martins-Costa MC, Cunha LL, Lindsey SC, Camacho CP, Dotto RP, Furuzawa GK, Sousa MS, Kasamatsu TS, Kunii IS, Martins MM, Machado AL, Martins JR, Dias-da-Silva MR, Maciel RM. Martins-Costa MC, et al. Among authors: furuzawa gk. Endocr Relat Cancer. 2016 Dec;23(12):909-920. doi: 10.1530/ERC-16-0141. Endocr Relat Cancer. 2016. PMID: 27807060
A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.
Martins-Costa MC, Lindsey SC, Cunha LL, Carreiro-Filho FP, Cortez AP, Holanda ME, Farias JWM, Lima SB, Ferreira LAA, Maia Filho PC, Camacho CP, Furuzawa GK, Kunii IS, Dias-da-Silva MR, Martins JRM, Maciel RMB. Martins-Costa MC, et al. Among authors: furuzawa gk. Arch Endocrinol Metab. 2018;62(6):623-635. doi: 10.20945/2359-3997000000088. Arch Endocrinol Metab. 2018. PMID: 30624503 Free PMC article.
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
Paninka RM, Mazzotti DR, Kizys MM, Vidi AC, Rodrigues H, Silva SP, Kunii IS, Furuzawa GK, Arcisio-Miranda M, Dias-da-Silva MR. Paninka RM, et al. Among authors: furuzawa gk. Mol Genet Genomics. 2016 Aug;291(4):1535-44. doi: 10.1007/s00438-016-1185-0. Epub 2016 Mar 23. Mol Genet Genomics. 2016. PMID: 27008341
14 results