Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1999.560116.x/fullpdf
Reference12 articles.
1. Preventive screening for the fragile X syndrome;Turner;N Engl J Med,1986
2. The frequency of the fragile X chromosome among schoolchildren in Coventry;Webb;J Med Genet,1986
3. Fragile X screening program in a Spanish region;Gabarrón;Am J Med Genet,1992
4. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase;Chong;Am J Med Genet,1994
5. Guideline for the diagnosis of fragile X syndrome;Oostra;J Med Genet,1993
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1. Most Martin–Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity;Journal of Human Genetics;2016-10-06
2. Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain;BioMed Research International;2014
3. Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations;Annals of Human Genetics;2011-12-21
4. Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders;Arquivos de Neuro-Psiquiatria;2005-09
5. Incidence of Fragile X in 5,000 Consecutive Newborn Males;Genetic Testing;2003-12
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