Literature DB >> 18444988

The fragile X continuum: new advances and perspectives.

K Cornish1, J Turk, R Hagerman.   

Abstract

Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene-1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a decade of exciting and innovative science that has advanced our knowledge about the fragile X 'signature' or influence across cognitive and social development. The core aims of this review are to first discuss fragile X syndrome and premutation involvement in the context of current advances that demonstrate the dynamic nature of the genotype on phenotypic outcomes. Second, to discuss the implications of these recent advances for the development of clinical and educational interventions and resource tools that target specific phenotypic 'signatures' within the fragile X continuum.

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Year:  2008        PMID: 18444988     DOI: 10.1111/j.1365-2788.2008.01056.x

Source DB:  PubMed          Journal:  J Intellect Disabil Res        ISSN: 0964-2633


  45 in total

1.  Clinical report: a male with Down syndrome, fragile X syndrome, and autism.

Authors:  Lindsay Stevens; Nicole Tartaglia; Randi Hagerman; Karen Riley
Journal:  J Dev Behav Pediatr       Date:  2010-05       Impact factor: 2.225

2.  Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.

Authors:  S M Goebel-Goody; E D Wilson-Wallis; S Royston; S M Tagliatela; J R Naegele; P J Lombroso
Journal:  Genes Brain Behav       Date:  2012-04-06       Impact factor: 3.449

Review 3.  Potential therapeutic interventions for fragile X syndrome.

Authors:  Josien Levenga; Femke M S de Vrij; Ben A Oostra; Rob Willemsen
Journal:  Trends Mol Med       Date:  2010-09-21       Impact factor: 11.951

4.  Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.

Authors:  Michael R Hunsaker; Gloria Arque; Robert F Berman; Rob Willemsen; Renate K Hukema
Journal:  Results Probl Cell Differ       Date:  2012

5.  The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome.

Authors:  Jose Luis Olmos-Serrano; Joshua G Corbin; Mark P Burns
Journal:  Dev Neurosci       Date:  2011-11-08       Impact factor: 2.984

6.  Case 2: Developmental delay, especially language, in a toddler.

Authors:  Moshe Shapira; Zvi U Borochowitz
Journal:  Paediatr Child Health       Date:  2008-11       Impact factor: 2.253

7.  Cognitive, environmental, and linguistic predictors of syntax in fragile X syndrome and Down syndrome.

Authors:  Bruno Estigarribia; Gary E Martin; Joanne E Roberts
Journal:  J Speech Lang Hear Res       Date:  2012-04-03       Impact factor: 2.297

Review 8.  Fragile X: a family of disorders.

Authors:  Weerasak Chonchaiya; Andrea Schneider; Randi J Hagerman
Journal:  Adv Pediatr       Date:  2009

9.  A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Authors:  Hayley Crawford; Joanna Moss; Laura Groves; Robyn Dowlen; Lisa Nelson; Donna Reid; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2020-01

Review 10.  Systematic review of pharmacological treatments in fragile X syndrome.

Authors:  Jose-Ramon Rueda; Javier Ballesteros; Maria-Isabel Tejada
Journal:  BMC Neurol       Date:  2009-10-13       Impact factor: 2.474

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