Premature ovarian failure

[1]. Arnaud Lacombe, et al. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul;79(1):113-9. [Content Brief]

[2]. Baptiste Fouquet, et al. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife. 2017 Dec 12;6:e30490. [Content Brief]

[3]. Carolina Carlosama, et al. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet. 2017 Aug 15;26(16):3161-3166. [Content Brief]

[4]. Dan Zhang, et al. Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. [Content Brief]

[5]. Diana Lourenço, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. [Content Brief]

[6]. Elisa Di Pasquale, et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab. 2006 May;91(5):1976-9. [Content Brief]

[7]. Emerson Barchi Cordts, et al. Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet. 2011 Mar;283(3):635-43. [Content Brief]

[8]. Han Zhao, et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet. 2008 Jun;82(6):1342-8. [Content Brief]

[9]. Jian Wang, et al. Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med. 2014 Mar 6;370(10):972-4. [Content Brief]

[10]. Karla L Bretherick, et al. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005 Aug;117(4):376-82. [Content Brief]

[11]. Liat de Vries, et al. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32. [Content Brief]

[12]. M M França, et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clin Genet. 2018 Feb;93(2):408-411. [Content Brief]

[13]. Natalia Felipe-Medina, et al. A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. Elife. 2020 Aug 26;9:e56996. [Content Brief]

[14]. Paolo Beck-Peccoz, et al. Premature ovarian failure. Orphanet J Rare Dis. 2006 Apr 6;1:9. [Content Brief]

[15]. S Bione, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41. [Content Brief]

[16]. S E Harris, et al. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod. 2002 Aug;8(8):729-33. [Content Brief]

[17]. Saleh AlAsiri, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015 Jan;125(1):258-62. [Content Brief]

[18]. Sandrine Caburet, et al. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 6;370(10):943-949. [Content Brief]

[19]. Suixing Fan, et al. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 Feb 4;108(2):324-336. [Content Brief]

[20]. Ting Guo, et al. Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet. 2017 Apr 15;26(8):1452-1457. [Content Brief]

[21]. Ya-Xin Zhang, et al. XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. Clin Genet. 2019 Mar;95(3):442-443. [Content Brief]

[22]. Yingying Qin, et al. CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet. 2015 Jul 28;11(7):e1005419. [Content Brief]

[23]. Yingying Qin, et al. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007 Sep;81(3):576-81. [Content Brief]