Literature DB >> 24592027

Genetic pathogenesis of Perrault Syndrome.

Esma Sarıkaya1.   

Abstract

Entities:  

Year:  2012        PMID： 24592027      PMCID： PMC3939140          DOI： 10.5152/jtgga.2012.17

Source DB:  PubMed          Journal:  J Turk Ger Gynecol Assoc        ISSN： 1309-0380


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  15 in total

1.  Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

Authors:  U Aguglia; G Annesi; G Pasquinelli; P Spadafora; A Gambardella; F Annesi; A A Pasqua; F Cavalcanti; L Crescibene; A Bagalà; F Bono; R L Oliveri; P Valentino; M Zappia; A Quattrone
Journal:  Ann Neurol       Date:  2000-02       Impact factor: 10.422

2.  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

3.  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

4.  Perrault syndrome in sisters.

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

Review 5.  Alström syndrome: insights into the pathogenesis of metabolic disorders.

Authors:  Dorothée Girard; Nikolai Petrovsky
Journal:  Nat Rev Endocrinol       Date:  2010-12-07       Impact factor: 43.330

Review 6.  New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Authors:  D J Amor; M B Delatycki; R J Gardner; E Storey
Journal:  Am J Med Genet       Date:  2001-02-15

7.  Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.

Authors:  N A Georgopoulos; S Papapetropoulos; E Chroni; E S Papadeas; P A Dimopoulos; V Kyriazopoulout; M B Davis; L Eunson; G Kourounis; V A Tzingounist
Journal:  Gynecol Endocrinol       Date:  2004-08       Impact factor: 2.260

8.  The ovarioleukodystrophy.

Authors:  Stéphane Mathis; Gert C Scheper; Nicole Baumann; Elodie Petit; Roger Gil; Marjo S van der Knaap; Jean-Philippe Neau
Journal:  Clin Neurol Neurosurg       Date:  2008-08-03       Impact factor: 1.876

9.  Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.

Authors:  M Gironi; C Lamperti; R Nemni; M Moggio; G Comi; F R Guerini; P Ferrante; N Canal; A Naini; N Bresolin; S DiMauro
Journal:  Neurology       Date:  2004-03-09       Impact factor: 9.910

10.  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
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