Dias-da-Silva MR - Search Results

1

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Ramos LS, Kizys MML, Kunii IS, Spinola-Castro AM, Nesi-França S, Guerra RA, Camacho CP, Martins JRM, Maciel RMB, Dias-da-Silva MR, Chiamolera MI. Ramos LS, et al. Endocrine. 2018 Dec;62(3):628-638. doi: 10.1007/s12020-018-1673-6. Epub 2018 Jul 19. Endocrine. 2018. PMID: 30027432

2

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Dias da Silva MR, Cerutti JM, Tengan CH, Furuzawa GK, Vieira TC, Gabbai AA, Maciel RM. Dias da Silva MR, et al. Clin Endocrinol (Oxf). 2002 Mar;56(3):367-75. doi: 10.1046/j.1365-2265.2002.01481.x. Clin Endocrinol (Oxf). 2002. PMID: 11940049

3

A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.

Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM. Dias Da Silva MR, et al. J Clin Endocrinol Metab. 2002 Nov;87(11):4881-4. doi: 10.1210/jc.2002-020698. J Clin Endocrinol Metab. 2002. PMID: 12414843

4

Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation.

Barros ER, Dias da Silva MR, Kunii IS, Lazaretti-Castro M. Barros ER, et al. J Pediatr Endocrinol Metab. 2008 Aug;21(8):811-8. doi: 10.1515/jpem.2008.21.8.811. J Pediatr Endocrinol Metab. 2008. PMID: 18825883

5

Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.

Maciel RM, Lindsey SC, Dias da Silva MR. Maciel RM, et al. Nat Rev Endocrinol. 2011 May 10;7(11):657-67. doi: 10.1038/nrendo.2011.58. Nat Rev Endocrinol. 2011. PMID: 21556020 Review.

6

Extended RET gene analysis in patients with apparently sporadic medullary thyroid cancer: clinical benefits and cost.

Lindsey SC, Kunii IS, Germano-Neto F, Sittoni MY, Camacho CP, Valente FO, Yang JH, Signorini PS, Delcelo R, Cerutti JM, Maciel RM, Dias-da-Silva MR. Lindsey SC, et al. Horm Cancer. 2012 Aug;3(4):181-6. doi: 10.1007/s12672-012-0109-7. Epub 2012 May 31. Horm Cancer. 2012. PMID: 22648435 Free PMC article.

7

Measurement of calcitonin and calcitonin gene-related peptide mRNA refines the management of patients with medullary thyroid cancer and may replace calcitonin-stimulation tests.

Camacho CP, Lindsey SC, Melo MC, Yang JH, Germano-Neto F, Valente Fde O, Lima TR, Biscolla RP, Vieira JG, Cerutti JM, Dias-da-Silva MR, Maciel RM. Camacho CP, et al. Thyroid. 2013 Mar;23(3):308-16. doi: 10.1089/thy.2012.0361. Thyroid. 2013. PMID: 23259706 Free PMC article.

8

Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed/paraffin-embedded tissues, and long-term stored blood samples.

Kizys MM, Cardoso MG, Lindsey SC, Harada MY, Soares FA, Melo MC, Montoya MZ, Kasamatsu TS, Kunii IS, Giannocco G, Martins JR, Cerutti JM, Maciel RM, Dias-da-Silva MR. Kizys MM, et al. Arq Bras Endocrinol Metabol. 2012 Dec;56(9):618-26. doi: 10.1590/s0004-27302012000900004. Arq Bras Endocrinol Metabol. 2012. PMID: 23329184

9

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. 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

10

Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.

Valente FO, Dias da Silva MR, Camacho CP, Kunii IS, Bastos AU, da Fonseca CC, Simião HP, Tamanaha R, Maciel RM, Cerutti JM. Valente FO, et al. J Endocrinol Invest. 2013 Dec;36(11):975-81. doi: 10.3275/8997. Epub 2013 May 30. J Endocrinol Invest. 2013. PMID: 23723040

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