Literature DB >> 3087201

The Rett syndrome: genetics and the future.

V M Riccardi.   

Abstract

Genetic and nongenetic explanations of female-limited disease, such as the Rett syndrome, are reviewed, with emphasis on the possibility of a disturbance of late-replicating X-chromosome heterochromatinization. A possible disturbance of X-chromosome late-replication, as demonstrated by BUdR terminal pulse-labelling is described for a specific Rett syndrome patient.

Entities:  

Mesh:

Substances:

Year:  1986        PMID: 3087201     DOI: 10.1002/ajmg.1320250541

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


  9 in total

1.  Two sisters with Rett syndrome.

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

2.  Some remarks regarding the search for a genetic basis for Rett syndrome.

Authors:  E M Bühler
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

3.  Rett's syndrome and ornithine carbamoyltransferase deficiency.

Authors:  K H Carpenter; J R Bonham; A Clarke
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

Authors:  N C Schanen; E J Dahle; F Capozzoli; V A Holm; H Y Zoghbi; U Francke
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

5.  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

Review 6.  Rett syndrome: a review of current knowledge.

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

7.  Neuropathology of Rett syndrome.

Authors:  K Jellinger; D Armstrong; H Y Zoghbi; A K Percy
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

8.  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

9.  X chromosome linkage studies in familial Rett syndrome.

Authors:  A R Curtis; S Headland; S Lindsay; N S Thomas; E Boye; S Kamakari; P Roustan; M Anvret; J Wahlstrom; G McCarthy
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.