Literature DB >> 30016538

A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.

A C Zielen1, M J Khan2, N Pollock1, H Jiang1, J Ahmed2, R Nazli2, M Jabeen3, A Yatsenko1, A Rajkovic1.   

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Year:  2018        PMID： 30016538      PMCID： PMC6456337          DOI： 10.1111/cge.13406

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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Review 1.  Premature ovarian "failure" in the adolescent.

Authors:  Robert W Rebar
Journal:  Ann N Y Acad Sci       Date:  2008       Impact factor: 5.691

Review 2.  The lutropin/choriogonadotropin receptor, a 2002 perspective.

Authors:  Mario Ascoli; Francesca Fanelli; Deborah L Segaloff
Journal:  Endocr Rev       Date:  2002-04       Impact factor: 19.871

3.  Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.

Authors:  Ping Yuan; Zuyong He; Lingyan Zheng; Wenjun Wang; Yu Li; Haijing Zhao; Victor Wei Zhang; Qingxue Zhang; Dongzi Yang
Journal:  Hum Reprod       Date:  2017-04-01       Impact factor: 6.918

Review 4.  Inactivating mutations of the human luteinizing hormone receptor in both sexes.

Authors:  Ana Claudia Latronico; Ivo J P Arnhold
Journal:  Semin Reprod Med       Date:  2012-10-08       Impact factor: 1.303
  4 in total
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Review 1.  Genetics of human female infertility†.

Authors:  Svetlana A Yatsenko; Aleksandar Rajkovic
Journal:  Biol Reprod       Date:  2019-09-01       Impact factor: 4.285
  1 in total

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