de Calais FL - Search Results

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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: de calais fl. BMC Res Notes. 2011 Jun 6;4:173. doi: 10.1186/1756-0500-4-173. BMC Res Notes. 2011. PMID: 21645389 Free PMC article.

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: de calais fl. BMC Med Genet. 2014 Jan 10;15:7. doi: 10.1186/1471-2350-15-7. BMC Med Genet. 2014. PMID: 24405868 Free PMC article.

A study of splicing mutations in disorders of sex development.

de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D. de Calais FL, et al. Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3. Sci Rep. 2017. PMID: 29176693 Free PMC article.

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