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1
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
Fertil Steril. 2010 Dec;94(7):2932-4. doi: 10.1016/j.fertnstert.2010.06.049. Epub 2010 Aug 11.
2
POLG mutations and age at menopause.
Hum Reprod. 2012 Jul;27(7):2243-4. doi: 10.1093/humrep/des130. Epub 2012 May 2.
3
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4.
4
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1.
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Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.
Climacteric. 2018 Oct;21(5):467-471. doi: 10.1080/13697137.2018.1467891. Epub 2018 Jul 11.
8
Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.
Hepatology. 2010 Nov;52(5):1791-6. doi: 10.1002/hep.23891.

引用本文的文献

1
Endocrine Dysfunction in Primary Mitochondrial Diseases.
Endocr Rev. 2025 May 9;46(3):376-396. doi: 10.1210/endrev/bnaf002.
2
Mitochondrial Dysfunction in Primary Ovarian Insufficiency.
Endocrinology. 2019 Oct 1;160(10):2353-2366. doi: 10.1210/en.2019-00441.
3
Genetics of human female infertility†.
Biol Reprod. 2019 Sep 1;101(3):549-566. doi: 10.1093/biolre/ioz084.
4
Mitochondrial disease and endocrine dysfunction.
Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7.
5
Genetics of primary ovarian insufficiency: new developments and opportunities.
Hum Reprod Update. 2015 Nov-Dec;21(6):787-808. doi: 10.1093/humupd/dmv036. Epub 2015 Aug 4.
6
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.
Eur J Pediatr. 2015 Jun;174(6):767-73. doi: 10.1007/s00431-014-2457-5. Epub 2014 Nov 27.
8
Blood cell mitochondrial DNA content and premature ovarian aging.
PLoS One. 2012;7(8):e42423. doi: 10.1371/journal.pone.0042423. Epub 2012 Aug 3.

本文引用的文献

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The unfolding clinical spectrum of POLG mutations.
J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.
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Bone mineral density in estrogen-deficient young women.
J Clin Endocrinol Metab. 2009 Jul;94(7):2277-83. doi: 10.1210/jc.2008-1878. Epub 2009 Apr 28.
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Mitochondrial DNA polymerase-gamma and human disease.
Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. doi: 10.1093/hmg/ddl233.
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18.
6
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4.
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Consequences of mutations in human DNA polymerase gamma.
Gene. 2005 Jul 18;354:125-31. doi: 10.1016/j.gene.2005.03.029.

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