Soardi FC - Search Results

1

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

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

Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.

Guerra-Junior G, Spinola-Castro AM, Siviero-Miachon AA, Nogueira RG, Lemos-Marini SH, D'Souza-Li LF, Silva PC, França ES, Soardi FC, Mello MP. Guerra-Junior G, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1221-7. doi: 10.1590/s0004-27302008000800004. Arq Bras Endocrinol Metabol. 2008. PMID: 19169473

5

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

6

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

7

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

8

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.

Soardi FC, Coeli FB, Maciel-Guerra AT, Guerra-Júnior G, Mello MP. Soardi FC, et al. J Appl Genet. 2010;51(2):223-4. doi: 10.1007/BF03195733. J Appl Genet. 2010. PMID: 20453312

9

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.

10

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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