Literature DB >> 4061497

Perrault syndrome in sisters.

D J McCarthy, J M Opitz.   

Abstract

Entities:  

Mesh：

Year:  1985        PMID： 4061497     DOI： 10.1002/ajmg.1320220324

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  6 in total

1.  Perrault syndrome: further evidence for genetic heterogeneity.

Authors:  Emma M Jenkinson; Jill Clayton-Smith; Sarju Mehta; Christopher Bennett; Willie Reardon; Andrew Green; Simon H S Pearce; Giuseppe De Michele; Gerard S Conway; Deirdre Cilliers; Natalie Moreton; Julian R E Davis; Dorothy Trump; William G Newman
Journal:  J Neurol       Date:  2011-10-27       Impact factor: 4.849

2.  Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Authors:  Sarah B Pierce; Tom Walsh; Karen M Chisholm; Ming K Lee; Anne M Thornton; Agata Fiumara; John M Opitz; Ephrat Levy-Lahad; Rachel E Klevit; Mary-Claire King
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

3.  Genetic pathogenesis of Perrault Syndrome.

Authors:  Esma Sarıkaya
Journal:  J Turk Ger Gynecol Assoc       Date:  2012-06-01

Review 4.  Unresolved questions regarding human hereditary deafness.

Authors:  A U Rehman; T B Friedman; A J Griffith
Journal:  Oral Dis       Date:  2016-07-11       Impact factor: 3.511

5.  Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.

Authors:  E Sarikaya; Cg Ensert; Hc Gulerman
Journal:  Balkan J Med Genet       Date:  2011-12       Impact factor: 0.519

6.  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
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.