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Investigation of polymorphisms in pre-eclampsia related genes VEGF and IL1A.

Silva VR, Soardi FC, Tanaka SC, da Silva-Grecco RL, Paschoini MC, Balarin MA. Silva VR, et al. Among authors: soardi fc. Arch Gynecol Obstet. 2015 May;291(5):1029-35. doi: 10.1007/s00404-014-3503-2. Epub 2014 Oct 17. Arch Gynecol Obstet. 2015. PMID: 25322977

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Frasier syndrome: four new cases with unusual presentations.

Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP. Guaragna MS, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):525-32. doi: 10.1590/s0004-27302012000800011. Arq Bras Endocrinol Metabol. 2012. PMID: 23295293

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Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Leme de Calais FL, et al. Among authors: soardi fc. Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19. Int J Mol Sci. 2011. PMID: 22272144 Free PMC article.

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The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.

Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S. Guaragna MS, et al. Among authors: soardi fc. J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. J Pediatr Hematol Oncol. 2010. PMID: 20562648

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Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.

Soardi FC, Esquiaveto-Aun AM, Guerra-Júnior G, Lemos-Marini SH, Mello MP. Soardi FC, et al. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):738-43. doi: 10.1590/s0004-27302010000800013. Arq Bras Endocrinol Metabol. 2010. PMID: 21340162

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Clinical and genetic findings of five patients with WT1-related disorders.

Andrade JG, Guaragna MS, Soardi FC, Guerra-Júnior G, Mello MP, Maciel-Guerra AT. Andrade JG, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1236-43. doi: 10.1590/s0004-27302008000800006. Arq Bras Endocrinol Metabol. 2008. PMID: 19169475

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Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Macedo LC, Soardi FC, Ananias N, Belangero VM, Rigatto SZ, De-Mello MP, D'Souza-Li L. Macedo LC, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1244-51. doi: 10.1590/s0004-27302008000800007. Arq Bras Endocrinol Metabol. 2008. PMID: 19169476

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Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.

Lusa LG, Lemos-Marini SH, Soardi FC, Ferraz LF, Guerra-Júnior G, Mello MP. Lusa LG, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):768-74. doi: 10.1590/s0004-27302010000800018. Arq Bras Endocrinol Metabol. 2010. PMID: 21340167

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New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.

Braghini CA, Neshich IA, Neshich G, Soardi FC, de Mello MP, Costa VP, de Vasconcellos JP, de Melo MB. Braghini CA, et al. Among authors: soardi fc. Gene. 2013 Jul 1;523(1):50-7. doi: 10.1016/j.gene.2013.02.054. Epub 2013 Apr 5. Gene. 2013. PMID: 23566828 Free article.

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The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

Fabbri HC, de Andrade JG, Soardi FC, de Calais FL, Petroli RJ, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Fabbri HC, et al. Among authors: soardi fc. BMC Med Genet. 2014 Jan 10;15:7. doi: 10.1186/1471-2350-15-7. BMC Med Genet. 2014. PMID: 24405868 Free PMC article.

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