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Items: 1 to 20 of 102

1.

Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.

Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai AS, Hasegawa T, Hasegawa Y.

Horm Res Paediatr. 2013;80(2):119-28. doi: 10.1159/000353763. Epub 2013 Aug 21.

PMID:
23969951
2.

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

Köhler B, Achermann JC.

Minerva Endocrinol. 2010 Jun;35(2):73-86. Review.

PMID:
20595937
3.

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.

Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May.

4.

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Pedace L, Laino L, Preziosi N, Valentini MS, Scommegna S, Rapone AM, Guarino N, Boscherini B, De Bernardo C, Marrocco G, Majore S, Grammatico P.

Am J Med Genet A. 2014 Nov;164A(11):2938-46. doi: 10.1002/ajmg.a.36729. Epub 2014 Aug 26.

PMID:
25160005
5.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE.

J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1.

PMID:
22549935
6.

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.

PLoS One. 2011;6(10):e24117. doi: 10.1371/journal.pone.0024117. Epub 2011 Oct 20.

7.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Tantawy S, Lin L, Akkurt I, Borck G, Klingmüller D, Hauffa BP, Krude H, Biebermann H, Achermann JC, Köhler B.

Eur J Endocrinol. 2012 Jul;167(1):125-30. doi: 10.1530/EJE-11-0944. Epub 2012 Apr 3.

8.

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.

Hum Mutat. 2008 Jan;29(1):59-64.

9.

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.

Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5.

10.

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.

Horm Res Paediatr. 2015;84(2):116-23. doi: 10.1159/000431324. Epub 2015 Jun 27.

PMID:
26139438
11.

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.

BMC Med Genet. 2014 Jan 10;15:7. doi: 10.1186/1471-2350-15-7.

12.

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.

Sex Dev. 2011;5(4):181-7. doi: 10.1159/000328821. Epub 2011 Jun 3.

14.

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC.

J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. Epub 2007 Jan 2.

15.

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.

Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L.

Eur J Med Genet. 2013 Nov;56(11):619-23. doi: 10.1016/j.ejmg.2013.09.006. Epub 2013 Sep 20.

16.

Comment on the Paper Entitled 'Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients'.

Hadziselimovic F.

Horm Res Paediatr. 2014;81(6):428. doi: 10.1159/000358522. Epub 2014 May 6. No abstract available.

PMID:
24819965
17.

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.

N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.

18.

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.

Lin L, Achermann JC.

Sex Dev. 2008;2(4-5):200-9. doi: 10.1159/000152036. Epub 2008 Nov 5. Review.

19.

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

Suwanai AS, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T.

Clin Endocrinol (Oxf). 2013 Jun;78(6):957-65. doi: 10.1111/cen.12054. Epub 2013 Apr 1.

PMID:
23095176
20.

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A.

Horm Res Paediatr. 2012;78(2):119-26. Epub 2012 Aug 14.

PMID:
22907560
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