Literature DB >> 24597873

Mutations in HFM1 in recessive primary ovarian insufficiency.

Jian Wang1, Wenxiang Zhang, Hong Jiang, Bai-Lin Wu.   

Abstract

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Year:  2014        PMID： 24597873     DOI： 10.1056/NEJMc1310150

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  43 in total

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2.  Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

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4.  Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.

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Journal:  J Hum Genet       Date:  2016-06-16       Impact factor: 3.172

Review 5.  Genetics of human female infertility†.

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6.  Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

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Review 7.  Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

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Review 8.  Genetics of primary ovarian insufficiency: new developments and opportunities.

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Journal:  Hum Reprod Update       Date:  2015-08-04       Impact factor: 15.610

Review 9.  Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.

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Journal:  Endocr Rev       Date:  2018-02-01       Impact factor: 19.871

10.  Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.

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Journal:  J Assist Reprod Genet       Date:  2020-08-13       Impact factor: 3.412
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