Literature DB >> 22037954

Perrault syndrome: further evidence for genetic heterogeneity.

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.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 22037954     DOI： 10.1007/s00415-011-6285-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  9 in total

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

Authors:  M PERRAULT; B KLOTZ; E HOUSSET
Journal:  Bull Mem Soc Med Hop Paris       Date:  1951 Jan 26-Feb 2

2.  Perrault syndrome with Marfanoid habitus in two siblings.

Authors:  Jubbin J Jacob; Thomas V Paul; Suma S Mathews; Nihal Thomas
Journal:  J Pediatr Adolesc Gynecol       Date:  2007-10       Impact factor: 1.814

3.  Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.

Authors:  José Berciano
Journal:  Nat Rev Neurol       Date:  2011-05-17       Impact factor: 42.937

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

Review 5.  The Perrault syndrome: clinical report and review.

Authors:  Y Nishi; K Hamamoto; M Kajiyama; I Kawamura
Journal:  Am J Med Genet       Date:  1988-11

6.  Perrault syndrome in sisters.

Authors:  D J McCarthy; J M Opitz
Journal:  Am J Med Genet       Date:  1985-11

7.  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

8.  Perrault syndrome: evidence for progressive nervous system involvement.

Authors:  Agata Fiumara; Giovanni Sorge; Antonio Toscano; Enrico Parano; Lorenzo Pavone; John M Opitz
Journal:  Am J Med Genet A       Date:  2004-07-30       Impact factor: 2.802

9.  The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.

Authors:  P D Pallister; J M Opitz
Journal:  Am J Med Genet       Date:  1979
  9 in total
  12 in total

1.  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

2.  Genetic pathogenesis of Perrault Syndrome.

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

Review 3.  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

4.  CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

Authors:  Karolina Szczepanowska; Priyanka Maiti; Alexandra Kukat; Eduard Hofsetz; Hendrik Nolte; Katharina Senft; Christina Becker; Benedetta Ruzzenente; Hue-Tran Hornig-Do; Rolf Wibom; Rudolf J Wiesner; Marcus Krüger; Aleksandra Trifunovic
Journal:  EMBO J       Date:  2016-10-20       Impact factor: 11.598

5.  Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Authors:  Daniel S Lieber; Steven G Hershman; Nancy G Slate; Sarah E Calvo; Katherine B Sims; Jeremy D Schmahmann; Vamsi K Mootha
Journal:  BMC Med Genet       Date:  2014-03-06       Impact factor: 2.103

Review 6.  Spectrum of combined respiratory chain defects.

Authors:  Johannes A Mayr; Tobias B Haack; Peter Freisinger; Daniela Karall; Christine Makowski; Johannes Koch; René G Feichtinger; Franz A Zimmermann; Boris Rolinski; Uwe Ahting; Thomas Meitinger; Holger Prokisch; Wolfgang Sperl
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

7.  Genetic diagnosis of Mendelian disorders via RNA sequencing.

Authors:  Laura S Kremer; Daniel M Bader; Christian Mertes; Robert Kopajtich; Garwin Pichler; Arcangela Iuso; Tobias B Haack; Elisabeth Graf; Thomas Schwarzmayr; Caterina Terrile; Eliška Koňaříková; Birgit Repp; Gabi Kastenmüller; Jerzy Adamski; Peter Lichtner; Christoph Leonhardt; Benoit Funalot; Alice Donati; Valeria Tiranti; Anne Lombes; Claude Jardel; Dieter Gläser; Robert W Taylor; Daniele Ghezzi; Johannes A Mayr; Agnes Rötig; Peter Freisinger; Felix Distelmaier; Tim M Strom; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Journal:  Nat Commun       Date:  2017-06-12       Impact factor: 14.919

8.  Perrault syndrome type 3 caused by diverse molecular defects in CLPP.

Authors:  Erica J Brodie; Hanmiao Zhan; Tamanna Saiyed; Kaye N Truscott; David A Dougan
Journal:  Sci Rep       Date:  2018-08-27       Impact factor: 4.379

9.  Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

Authors:  María Domínguez-Ruiz; Alberto García-Martínez; Marc Corral-Juan; Ángel I Pérez-Álvarez; Ana M Plasencia; Manuela Villamar; Miguel A Moreno-Pelayo; Antoni Matilla-Dueñas; Manuel Menéndez-González; Ignacio Del Castillo
Journal:  J Transl Med       Date:  2019-08-28       Impact factor: 5.531

10.  Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Authors:  R Faridi; A U Rehman; R J Morell; P L Friedman; L Demain; S Zahra; A A Khan; D Tohlob; M Z Assir; G Beaman; S N Khan; W G Newman; S Riazuddin; T B Friedman
Journal:  Clin Genet       Date:  2016-11-16       Impact factor: 4.438
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.