Similar articles for PMID: 28032338

Year	Number of Results
2000	1
2001	1
2004	1
2007	3
2008	3
2009	6
2010	7
2011	8
2012	13
2013	15
2014	12
2015	10
2016	10
2017	15
2018	11
2019	9
2020	13
2021	6
2022	5
2023	4
2024	0

1

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Colson C, Aubry E, Cartigny M, Rémy AA, Franquet H, Leroy X, Kéchid G, Lefèvre C, Besson R, Cools M, Spinoit AF, Sultan C, Manouvrier S, Philibert P, Ghoumid J. Colson C, et al. Clin Genet. 2017 Jul;92(1):99-103. doi: 10.1111/cge.12957. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28032338

2

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

Tantawy S, Mazen I, Soliman H, Anwar G, Atef A, El-Gammal M, El-Kotoury A, Mekkawy M, Torky A, Rudolf A, Schrumpf P, Grüters A, Krude H, Dumargne MC, Astudillo R, Bashamboo A, Biebermann H, Köhler B. Tantawy S, et al. Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24591553

3

Update--steroidogenic factor 1 (SF-1, NR5A1).

Köhler B, Achermann JC. Köhler B, et al. Minerva Endocrinol. 2010 Jun;35(2):73-86. Minerva Endocrinol. 2010. PMID: 20595937 Review.

4

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.

5

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.

6

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Harrison SM, et al. Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918653 Free PMC article.

7

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.

Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Grüters A, Achermann JC. Köhler B, et al. Eur J Endocrinol. 2009 Aug;161(2):237-42. doi: 10.1530/EJE-09-0067. Epub 2009 May 13. Eur J Endocrinol. 2009. PMID: 19439508 Free PMC article.

8

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.

9

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Woo KH, Cheon B, Kim JH, Cho J, Kim GH, Yoo HW, Choi JH. Woo KH, et al. Horm Res Paediatr. 2015;84(2):116-23. doi: 10.1159/000431324. Epub 2015 Jun 27. Horm Res Paediatr. 2015. PMID: 26139438

10

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC. Köhler B, et al. Hum Mutat. 2008 Jan;29(1):59-64. doi: 10.1002/humu.20588. Hum Mutat. 2008. PMID: 17694559 Free PMC article.

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