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Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1.
Arq Bras Endocrinol Metabol. 2010 Nov;54(8):754-60. doi: 10.1590/s0004-27302010000800016.
Arq Bras Endocrinol Metabol. 2010.
PMID: 21340165
Multifunctional role of steroidogenic factor 1 and disorders of sex development.
Mello MP, França ES, Fabbri HC, Maciel-Guerra AT, Guerra-Júnior G.
Mello MP, et al. Among authors: fabbri hc.
Arq Bras Endocrinol Metabol. 2011 Nov;55(8):607-12. doi: 10.1590/s0004-27302011000800015.
Arq Bras Endocrinol Metabol. 2011.
PMID: 22218443
Review.
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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.
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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NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Fabbri HC, Ribeiro de Andrade JG, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
Fabbri HC, et al.
Sex Dev. 2016;10(4):191-199. doi: 10.1159/000448013. Epub 2016 Jul 28.
Sex Dev. 2016.
PMID: 27463801
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Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.
Gabriel Ribeiro de Andrade J, Marques-de-Faria AP, Fabbri HC, de Mello MP, Guerra-Júnior G, Maciel-Guerra AT.
Gabriel Ribeiro de Andrade J, et al. Among authors: fabbri hc.
Int J Endocrinol. 2014;2014:480724. doi: 10.1155/2014/480724. Epub 2014 Dec 14.
Int J Endocrinol. 2014.
PMID: 25580123
Free PMC article.
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