Dias-da-Silva MR - Search Results

1

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

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 novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

Barros ER, Dias da Silva MR, Kunii IS, Hauache OM, Lazaretti-Castro M. Barros ER, et al. Osteoporos Int. 2007 Jul;18(7):1017-8. doi: 10.1007/s00198-007-0360-x. Epub 2007 Apr 17. Osteoporos Int. 2007. PMID: 17437160 No abstract available.

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

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.

6

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

7

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

8

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis.

Zapata M, Kunii IS, Paninka RM, Simões DM, Castillo VA, Reche A Jr, Maciel RM, Dias da Silva MR. Zapata M, et al. Biol Open. 2014 Jul 25;3(9):785-93. doi: 10.1242/bio.20148003. Biol Open. 2014. PMID: 25063199 Free PMC article.

9

The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis.

Rolim AL, Lindsey SC, Kunii IS, Crispim F, Moisés RC, Maciel RM, Dias-da-Silva MR. Rolim AL, et al. J Mol Endocrinol. 2014 Oct;53(2):295-301. doi: 10.1530/JME-14-0083. Epub 2014 Aug 20. J Mol Endocrinol. 2014. PMID: 25143473

10

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.

Weinert LS, Silveiro SP, Giuffrida FM, Cunha VT, Bulcão C, Calliari LE, Della Manna T, Kunii IS, Dotto RP, Dias-da-Silva MR, Reis AF. Weinert LS, et al. Diabetes Res Clin Pract. 2014 Nov;106(2):e44-8. doi: 10.1016/j.diabres.2014.08.006. Epub 2014 Aug 12. Diabetes Res Clin Pract. 2014. PMID: 25174781

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