Literature DB >> 15512356

Sporadic Perrault syndrome.

D S Nikolaou1, R M Winston.   

Abstract

Entities:  

Year:  1999        PMID: 15512356     DOI: 10.1080/01443619964896

Source DB:  PubMed          Journal:  J Obstet Gynaecol        ISSN: 0144-3615            Impact factor:   1.246


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  4 in total

1.  Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Authors:  Sarah B Pierce; Karen M Chisholm; Eric D Lynch; Ming K Lee; Tom Walsh; John M Opitz; Weiqing Li; Rachel E Klevit; Mary-Claire King
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-04       Impact factor: 11.205

2.  A rare cause for primary amenorrhoea.

Authors:  Kaderthambi Hajamohideen Noorul Ameen; Rakesh Pinninti
Journal:  J Hum Reprod Sci       Date:  2012-05

3.  A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

Authors:  Kui Chen; Ke Yang; Su-Shan Luo; Chen Chen; Ying Wang; Yi-Xuan Wang; Da-Ke Li; Yu-Jie Yang; Yi-Lin Tang; Feng-Tao Liu; Jian Wang; Jian-Jun Wu; Yi-Min Sun
Journal:  BMC Med Genet       Date:  2017-08-23       Impact factor: 2.103

4.  A rare cause for primary amenorrhea: Sporadic perrault syndrome.

Authors:  K H Noorul Ameen; Rakesh Pinninti
Journal:  Indian J Endocrinol Metab       Date:  2012-09
  4 in total

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