Literature DB >> 14821788

[Two cases of Turner syndrome with deaf-mutism in two sisters].

M PERRAULT, B KLOTZ, E HOUSSET.   

Abstract

Entities:  

Keywords:  DEAF-MUTISM; TURNER SYNDROME

Mesh：

Year:  1951        PMID： 14821788

Source DB:  PubMed          Journal:  Bull Mem Soc Med Hop Paris        ISSN： 0366-1334


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  21 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. 

Authors:  Gottfried Schubert
Journal:  Wilhelm Roux Arch Entwickl Mech Org       Date:  1957-01

Review 3.  Mitochondrial Proteolysis and Metabolic Control.

Authors:  Sofia Ahola; Thomas Langer; Thomas MacVicar
Journal:  Cold Spring Harb Perspect Biol       Date:  2019-07-01       Impact factor: 10.005

4.  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

5.  Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Authors:  Emma M Jenkinson; Atteeq U Rehman; Tom Walsh; Jill Clayton-Smith; Kwanghyuk Lee; Robert J Morell; Meghan C Drummond; Shaheen N Khan; Muhammad Asif Naeem; Bushra Rauf; Neil Billington; Julie M Schultz; Jill E Urquhart; Ming K Lee; Andrew Berry; Neil A Hanley; Sarju Mehta; Deirdre Cilliers; Peter E Clayton; Helen Kingston; Miriam J Smith; Thomas T Warner; Graeme C Black; Dorothy Trump; Julian R E Davis; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Mary-Claire King; Thomas B Friedman; William G Newman
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

6.  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

7.  Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Authors:  Hiroyuki Morino; Sarah B Pierce; Yukiko Matsuda; Tom Walsh; Ryosuke Ohsawa; Marta Newby; Keiko Hiraki-Kamon; Masahito Kuramochi; Ming K Lee; Rachel E Klevit; Alan Martin; Hirofumi Maruyama; Mary-Claire King; Hideshi Kawakami
Journal:  Neurology       Date:  2014-10-29       Impact factor: 9.910

8.  Perrault syndrome - a rare case report.

Authors:  Geethalakshmi Sampathkumar; Narendrakumar Veerasigamani
Journal:  J Clin Diagn Res       Date:  2015-03-01

Review 9.  Next-generation sequencing in genetic hearing loss.

Authors:  Denise Yan; Mustafa Tekin; Susan H Blanton; Xue Zhong Liu
Journal:  Genet Test Mol Biomarkers       Date:  2013-06-05

Review 10.  New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Authors:  Rabia Faridi; Alessandro Rea; Cristina Fenollar-Ferrer; Raymond T O'Keefe; Shoujun Gu; Zunaira Munir; Asma Ali Khan; Sheikh Riazuddin; Michael Hoa; Sadaf Naz; William G Newman; Thomas B Friedman
Journal:  Hum Genet       Date:  2021-08-02       Impact factor: 4.132
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