Soardi FC - Search Results

1

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

2

H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.

Lau IF, Soardi FC, Lemos-Marini SH, Guerra G Jr, Baptista MT, De Mello MP. Lau IF, et al. Among authors: soardi fc. J Clin Endocrinol Metab. 2001 Dec;86(12):5877-80. doi: 10.1210/jcem.86.12.8113. J Clin Endocrinol Metab. 2001. PMID: 11739456

3

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

Soardi FC, Barbaro M, Lau IF, Lemos-Marini SH, Baptista MT, Guerra-Junior G, Wedell A, Lajic S, de Mello MP. Soardi FC, et al. J Clin Endocrinol Metab. 2008 Jun;93(6):2416-20. doi: 10.1210/jc.2007-2594. Epub 2008 Apr 1. J Clin Endocrinol Metab. 2008. PMID: 18381579

4

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

5

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

6

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.

Soardi FC, Lemos-Marini SH, Coeli FB, Maturana VG, Silva MD, Bernardi RD, Justo GZ, de-Mello MP. Soardi FC, et al. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1388-92. doi: 10.1590/s0004-27302008000800030. Arq Bras Endocrinol Metabol. 2008. PMID: 19169499

7

Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.

Soardi FC, Penachioni JY, Justo GZ, Bachega TA, Inácio M, Mendonça BB, de Castro M, de Mello MP. Soardi FC, et al. J Clin Endocrinol Metab. 2009 Sep;94(9):3481-5. doi: 10.1210/jc.2008-2521. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567537

8

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP. Coeli FB, et al. Among authors: soardi fc. BMC Med Genet. 2010 Jun 29;11:104. doi: 10.1186/1471-2350-11-104. BMC Med Genet. 2010. PMID: 20587039 Free PMC article.

9

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.

Cunha JL, Soardi FC, Bernardi RD, Oliveira LE, Benedetti CE, Guerra-Junior G, Maciel-Guerra AT, de Mello MP. Cunha JL, et al. Among authors: soardi fc. Braz J Med Biol Res. 2011 Apr;44(4):361-5. doi: 10.1590/s0100-879x2011007500017. Epub 2011 Feb 11. Braz J Med Biol Res. 2011. PMID: 21344134 Free article.

10

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.

Petroli RJ, Maciel-Guerra AT, Soardi FC, de Calais FL, Guerra-Junior G, de Mello MP. Petroli RJ, et al. Among authors: soardi fc. BMC Res Notes. 2011 Jun 6;4:173. doi: 10.1186/1756-0500-4-173. BMC Res Notes. 2011. PMID: 21645389 Free PMC article.

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