Literature DB >> 3877471

Rett syndrome: Swedish approach to analysis of prevalence and cause.

B Hagberg.   

Abstract

The prevalence of the Rett syndrome was found to be approximately 1:15,000 in south-western Sweden. About 40 cases have now been traced in this country, the majority during the last 2 yrs. Experiences of over 20 yrs in efforts to obtain information on the etiology and pathogenesis are summarized. The neurobiological approach used in Gothenburg today to try to reveal the origin is described. A plea is made for developmental screening of deteriorating hand skill as a tool for early identification of potential cases of the Rett syndrome.

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Year:  1985        PMID： 3877471

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  9 in total

Review 1.  MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction.

Authors:  Bin Xu; Pei-Ken Hsu; Maria Karayiorgou; Joseph A Gogos
Journal:  Neurobiol Dis       Date:  2012-03-03       Impact factor: 5.996

2.  Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

Authors:  K A Ellison; C P Fill; J Terwilliger; L J DeGennaro; A Martin-Gallardo; M Anvret; A K Percy; J Ott; H Zoghbi
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

Review 3.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

4.  Electron-dense lipidic capillary deposits in Rett syndrome.

Authors:  R Dieler; J M Schröder; K Reddemann
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

Review 5.  MicroRNAs in psychiatric and neurodevelopmental disorders.

Authors:  Bin Xu; Maria Karayiorgou; Joseph A Gogos
Journal:  Brain Res       Date:  2010-04-10       Impact factor: 3.252

6.  Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.

Authors:  Tatiana Beskorovainaya; Fedor Konovalov; Nina Demina; Olga Shchagina; Maria Pashchenko; Ilya Kanivets; Denis Pyankov; Oxana Ryzhkova; Alexander Polyakov
Journal:  J Autism Dev Disord       Date:  2021-06

Review 7.  Autism-lessons from the X chromosome.

Authors:  Elysa J Marco; David H Skuse
Journal:  Soc Cogn Affect Neurosci       Date:  2006-12       Impact factor: 3.436

8.  First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature.

Authors:  Jalal Gharesouran; Azizeh Farshbaf Khalili; Noushin Sorkhkoh Azari; Leila Vahedi
Journal:  Epilepsy Behav Case Rep       Date:  2015-02-23

9.  Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

Authors:  Christopher S Ward; Teng-Wei Huang; José A Herrera; Rodney C Samaco; Meagan R Pitcher; Alan Herron; Steven A Skinner; Walter E Kaufmann; Daniel G Glaze; Alan K Percy; Jeffrey L Neul
Journal:  PLoS One       Date:  2016-11-09       Impact factor: 3.240
  9 in total

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