A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Prevalence and Phenotype Consequence of FRAXA and FRAXE Alleles in a Large, Ethnically Diverse, Special Education–Needs Population
2. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
3. Identification of the gene FMR2, associated with FRAXE mental retardation
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1. Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR;The Journal of Molecular Diagnostics;2021-08
2. Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions;Scientific Reports;2021-07-19
3. Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report;Journal of Medical Case Reports;2018-09-25
4. Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes;EMBO Molecular Medicine;2015-11-26
5. Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report;Molecular Cytogenetics;2012-06-11
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