Literature DB >> 11897823

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.

J Tarleton, A Kenneson, A K Taylor, K Crandall, R Fletcher, R Casey, P S Hart, D Hatton, G Fisch, S T Warren.   

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Year:  2002        PMID： 11897823      PMCID： PMC1735062          DOI： 10.1136/jmg.39.3.196

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Authors:  Massimiliano Cecconi; Francesca Forzano; Rosanna Rinaldi; Sandra Cappellacci; Paola Grammatico; Francesca Faravelli; Franca Dagna Bricarelli; Emilio Di Maria; Marina Grasso
Journal:  J Mol Diagn       Date:  2008-04-10       Impact factor: 5.568

2.  Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.

Authors:  Raquel Martínez; Victoria Bonilla-Henao; Antonio Jiménez; Miguel Lucas; Carmen Vega; Inmaculada Ramos; Francisco Sobrino; Elizabeth Pintado
Journal:  Mol Diagn       Date:  2005

Review 3.  Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Authors:  Emmanuel Peprah
Journal:  Ann Hum Genet       Date:  2011-12-21       Impact factor: 1.670

4.  Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Authors:  Sebastien Jacquemont; Stefanie Birnbaum; Silke Redler; Peter Steinbach; Valérie Biancalana
Journal:  Eur J Hum Genet       Date:  2011-05-04       Impact factor: 4.246

Review 5.  Recent advances in assays for the fragile X-related disorders.

Authors:  Bruce E Hayward; Daman Kumari; Karen Usdin
Journal:  Hum Genet       Date:  2017-09-02       Impact factor: 4.132

Review 6.  Mechanisms of Genome Instability in the Fragile X-Related Disorders.

Authors:  Bruce E Hayward; Karen Usdin
Journal:  Genes (Basel)       Date:  2021-10-17       Impact factor: 4.096

7.  Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

Authors:  Cedrik Tekendo-Ngongang; Angela Grochowsky; Benjamin D Solomon; Sho T Yano
Journal:  Genes (Basel)       Date:  2021-10-22       Impact factor: 4.096

8.  EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Authors:  Valérie Biancalana; Dieter Glaeser; Shirley McQuaid; Peter Steinbach
Journal:  Eur J Hum Genet       Date:  2014-09-17       Impact factor: 4.246
  8 in total

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