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Genetics of the ovarian reserve.

Pelosi E, Forabosco A, Schlessinger D.

Front Genet. 2015 Oct 15;6:308. doi: 10.3389/fgene.2015.00308. eCollection 2015. Review.


The genetics of premature ovarian failure: current perspectives.

Chapman C, Cree L, Shelling AN.

Int J Womens Health. 2015 Sep 23;7:799-810. doi: 10.2147/IJWH.S64024. eCollection 2015. Review.


Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y, Jiao X, Simpson JL, Chen ZJ.

Hum Reprod Update. 2015 Nov-Dec;21(6):787-808. doi: 10.1093/humupd/dmv036. Epub 2015 Aug 4. Review.


CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen ZJ.

PLoS Genet. 2015 Jul 28;11(7):e1005419. doi: 10.1371/journal.pgen.1005419. eCollection 2015 Jul.


Hedgehog signaling and steroidogenesis.

Finco I, LaPensee CR, Krill KT, Hammer GD.

Annu Rev Physiol. 2015;77:105-29. doi: 10.1146/annurev-physiol-061214-111754. Review.


New insights into the genetic basis of infertility.

Venkatesh T, Suresh PS, Tsutsumi R.

Appl Clin Genet. 2014 Dec 1;7:235-43. doi: 10.2147/TACG.S40809. eCollection 2014. Review.


Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M.

Orphanet J Rare Dis. 2014 Dec 14;9:209. doi: 10.1186/s13023-014-0209-2.


Implications of Blood Type for Ovarian Reserve and Infertility - Impact on Oocyte Yield in IVF Patients.

Spitzer D, Corn C, Stadler J, Wirleitner B, Schuff M, Vanderzwalmen P, Grabher F, Zech NH.

Geburtshilfe Frauenheilkd. 2014 Oct;74(10):928-932.


Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE.

PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014.


Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eggers S, Smith KR, Bahlo M, Looijenga LH, Drop SL, Juniarto ZA, Harley VR, Koopman P, Faradz SM, Sinclair AH.

Eur J Hum Genet. 2015 Apr;23(4):486-93. doi: 10.1038/ejhg.2014.130. Epub 2014 Aug 6.


DSDs: genetics, underlying pathologies and psychosexual differentiation.

Arboleda VA, Sandberg DE, Vilain E.

Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5. Review.


Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

Santos MG, Machado AZ, Martins CN, Domenice S, Costa EM, Nishi MY, Ferraz-de-Souza B, Jorge SA, Pereira CA, Soardi FC, de Mello MP, Maciel-Guerra AT, Guerra-Junior G, Mendonca BB.

Biomed Res Int. 2014;2014:787465. doi: 10.1155/2014/787465. Epub 2014 Jun 26.


Testicular differentiation factor SF-1 is required for human spleen development.

Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E.

J Clin Invest. 2014 May;124(5):2071-5. Epub 2014 Apr 8.


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.


Long-term evaluation of patients undergoing genitoplasty due to disorders of sex development: results from a 14-year follow-up.

Zhang H, Pan J, Ji H, Wang Y, Shen W, Liu L, Lu G, Zhou Z.

ScientificWorldJournal. 2013 Nov 25;2013:298015. doi: 10.1155/2013/298015. eCollection 2013.


Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.

dos Santos AP, Andrade JG, Piveta CS, de Paulo J, Guerra G Jr, de Mello MP, Maciel-Guerra AT.

BMC Med Genet. 2013 Nov 5;14:115. doi: 10.1186/1471-2350-14-115.


Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

Jiao X, Qin Y, Li G, Zhao S, You L, Ma J, Simpson JL, Chen ZJ.

PLoS One. 2013 Sep 20;8(9):e74759. doi: 10.1371/journal.pone.0074759. eCollection 2013.


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.


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.


Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature.

Kebaili S, Chaabane K, Mnif MF, Kamoun M, Kacem FH, Guesmi N, Gassara H, Dammak A, Louati D, Amouri H, Guermazi M.

Indian J Endocrinol Metab. 2013 May;17(3):505-8. doi: 10.4103/2230-8210.111663.

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