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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 2 |
2007 | 1 |
2009 | 1 |
2011 | 2 |
2024 | 0 |
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6 results
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Page 1
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
J Clin Endocrinol Metab. 2004 Oct;89(10):4829-32. doi: 10.1210/jc.2004-0670.
J Clin Endocrinol Metab. 2004.
PMID: 15472171
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, Fukutani K, Morohashi K, Ogata T.
Hasegawa T, et al.
J Clin Endocrinol Metab. 2004 Dec;89(12):5930-5. doi: 10.1210/jc.2004-0935.
J Clin Endocrinol Metab. 2004.
PMID: 15579739
Review.
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Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
Coutant R, Mallet D, Lahlou N, Bouhours-Nouet N, Guichet A, Coupris L, Croué A, Morel Y.
Coutant R, et al.
J Clin Endocrinol Metab. 2007 Aug;92(8):2868-73. doi: 10.1210/jc.2007-0024. Epub 2007 May 8.
J Clin Endocrinol Metab. 2007.
PMID: 17488792
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Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.
Lourenço D, et al.
N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.
N Engl J Med. 2009.
PMID: 19246354
Free PMC article.
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Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.
Barbaro M, Cools M, Looijenga LH, Drop SL, Wedell A.
Barbaro M, et al.
Sex Dev. 2011;5(4):181-7. doi: 10.1159/000328821. Epub 2011 Jun 3.
Sex Dev. 2011.
PMID: 21654157
Free article.
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Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, Trivin C, Lottmann H, Lortat-Jacob S, Nihoul-Fékété C, De Dreuzy O, McElreavey K, Bashamboo A.
Allali S, et al.
PLoS One. 2011;6(10):e24117. doi: 10.1371/journal.pone.0024117. Epub 2011 Oct 20.
PLoS One. 2011.
PMID: 22028768
Free PMC article.
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