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Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.
Ann Hum Biol. 2022 Dec;49(7-8):274-279. doi: 10.1080/03014460.2022.2134452. Epub 2023 Jan 23.
Ann Hum Biol. 2022.
PMID: 36218438
Free article.
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet H, Werner R, Guaragna MS, de Andrade JGR, Maciel-Guerra AT, Hornig NC, Hiort O, Guerra-Júnior G, de Mello MP.
Fabbri-Scallet H, et al. Among authors: de andrade jgr.
Sex Dev. 2022;16(4):252-260. doi: 10.1159/000524956. Epub 2022 Jun 28.
Sex Dev. 2022.
PMID: 35764069
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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Fabbri-Scallet H, de Mello MP, Guerra-Júnior G, Maciel-Guerra AT, de Andrade JGR, de Queiroz CMC, Monlleó IL, Struve D, Hiort O, Werner R.
Fabbri-Scallet H, et al. Among authors: de andrade jgr.
Hum Mutat. 2018 Jan;39(1):114-123. doi: 10.1002/humu.23353. Epub 2017 Nov 8.
Hum Mutat. 2018.
PMID: 29027717
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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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