Literature DB >> 7566453

Clinical delineation of Rett syndrome variants.

B Hagberg1.   

Abstract

The broad clinical variety within the Rett syndrome (RS) concept is emphasized. A model recently presented for delineation of atypical Rett variants is reviewed.

Entities:  

Mesh：

Year:  1995        PMID： 7566453     DOI： 10.1055/s-2007-979723

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  13 in total

1.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Authors:  M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; S Budden; S Naidu; J L Pereira; I F Lo; H Y Zoghbi; N C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.

Authors:  Elisa Frullanti; Sonia Amabile; Maria Grazia Lolli; Anna Bartolini; Gabriella Livide; Elisa Landucci; Francesca Mari; Flora M Vaccarino; Francesca Ariani; Luca Massimino; Alessandra Renieri; Ilaria Meloni
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

3.  Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Authors:  Daniela Zahorakova; Robert Rosipal; Jan Hadac; Alena Zumrova; Vladimir Bzduch; Nadezda Misovicova; Alice Baxova; Jiri Zeman; Pavel Martasek
Journal:  J Hum Genet       Date:  2007-02-15       Impact factor: 3.172

Review 4.  Clinical and biological progress over 50 years in Rett syndrome.

Authors:  Helen Leonard; Stuart Cobb; Jenny Downs
Journal:  Nat Rev Neurol       Date:  2016-12-09       Impact factor: 42.937

5.  Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.

Authors:  Daniel C Tarquinio; Wei Hou; Jeffrey L Neul; Jane B Lane; Katherine V Barnes; Heather M O'Leary; Natalie M Bruck; Walter E Kaufmann; Kathleen J Motil; Daniel G Glaze; Steven A Skinner; Fran Annese; Lauren Baggett; Judy O Barrish; Suzanne P Geerts; Alan K Percy
Journal:  Pediatr Neurol       Date:  2015-02-16       Impact factor: 3.372

Review 6.  Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

Authors:  Huda Y Zoghbi; Mark F Bear
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-03-01       Impact factor: 10.005

7.  X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Authors:  Juan I Young; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2004-02-17       Impact factor: 11.025

Review 8.  Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Authors:  Francois Dominique Jacob; Vijay Ramaswamy; John Andersen; Francois V Bolduc
Journal:  Eur J Hum Genet       Date:  2009-07-22       Impact factor: 4.246

9.  Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.

Authors:  J C Carter; D C Lanham; D Pham; G Bibat; S Naidu; W E Kaufmann
Journal:  AJNR Am J Neuroradiol       Date:  2007-12-07       Impact factor: 3.825

10.  Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Authors:  Nadia Bahi-Buisson; Juliette Nectoux; Benoit Girard; Hilde Van Esch; Thomy De Ravel; Nathalie Boddaert; Perrine Plouin; Marlene Rio; Yann Fichou; Jamel Chelly; Thierry Bienvenu
Journal:  Neurogenetics       Date:  2009-10-06       Impact factor: 2.660
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