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Year | Number of Results |
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2014 | 1 |
2016 | 4 |
2017 | 3 |
2024 | 0 |
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Page 1
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
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 recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC.
Bashamboo A, et al.
Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4.
Hum Mol Genet. 2016.
PMID: 27378692
Free PMC article.
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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M.
Baetens D, et al.
Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4.
Genet Med. 2017.
PMID: 27490115
Free PMC article.
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Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M.
Igarashi M, et al.
Hum Mutat. 2017 Jan;38(1):39-42. doi: 10.1002/humu.23116. Epub 2016 Sep 21.
Hum Mutat. 2017.
PMID: 27610946
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A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
Swartz JM, Ciarlo R, Guo MH, Abrha A, Weaver B, Diamond DA, Chan YM, Hirschhorn JN.
Swartz JM, et al.
Horm Res Paediatr. 2017;87(3):191-195. doi: 10.1159/000452888. Epub 2016 Nov 18.
Horm Res Paediatr. 2017.
PMID: 27855412
Free PMC article.
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