Literature DB >> 3087203

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.

B Hagberg, I Witt-Engerström.   

Abstract

A four-stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, 'classical' rett syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.

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Year:  1986        PMID: 3087203     DOI: 10.1002/ajmg.1320250506

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  63 in total

Review 1.  Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Authors:  Mona D Shahbazian; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2002-11-19       Impact factor: 11.025

2.  Describing the phenotype in Rett syndrome using a population database.

Authors:  L Colvin; S Fyfe; S Leonard; T Schiavello; C Ellaway; N De Klerk; J Christodoulou; M Msall; H Leonard
Journal:  Arch Dis Child       Date:  2003-01       Impact factor: 3.791

3.  Two sisters with Rett syndrome.

Authors:  C A Haenggeli; J Moura-Serra; C D DeLozier-Blanchet
Journal:  J Autism Dev Disord       Date:  1990-03

Review 4.  Rett syndrome: clinical review and genetic update.

Authors:  L S Weaving; C J Ellaway; J Gécz; J Christodoulou
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

5.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Authors:  Laila Robertson; Sonĵa E Hall; Peter Jacoby; Carolyn Ellaway; Nick de Klerk; Helen Leonard
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-03-05       Impact factor: 3.568

6.  In search of a genetic basis for the Rett syndrome.

Authors:  P S Martinho; P G Otto; F Kok; A Diament; M J Marques-Dias; C H Gonzalez
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

7.  Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice.

Authors:  Georg M Stettner; Peter Huppke; Cornelia Brendel; Diethelm W Richter; Jutta Gärtner; Mathias Dutschmann
Journal:  J Physiol       Date:  2007-01-04       Impact factor: 5.182

Review 8.  Rett syndrome: a review of current knowledge.

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

9.  Rett syndrome, classical and atypical: genealogical support for common origin.

Authors:  H O Akesson; B Hagberg; J Wahlström
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

10.  Speech and motor disturbances in Rett syndrome.

Authors:  V M Bashina; N V Simashkova; V V Grachev; N L Gorbachevskaya
Journal:  Neurosci Behav Physiol       Date:  2002 Jul-Aug
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