相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
Kristin G. Monaghan et al.
GENETICS IN MEDICINE (2013)
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
Carolyn M. Yrigollen et al.
GENETICS IN MEDICINE (2012)
Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation
Jane S. Juusola et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2012)
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States
Feras M. Hantash et al.
GENETICS IN MEDICINE (2011)
Fragile X carrier screening and FMR1 allele distribution in the Japanese population
Susumu Otsuka et al.
BRAIN & DEVELOPMENT (2010)
An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis
Liangjing Chen et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Genetic Testing in Israel: An Overview
Guy Rosner et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
Isabel Fernandez-Carvajal et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests
Michal Berkenstadt et al.
PRENATAL DIAGNOSIS (2007)
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis
Youyou Zhou et al.
CLINICAL CHEMISTRY (2006)
Fragile X syndrome: Diagnostic and carrier testing
S Sherman et al.
GENETICS IN MEDICINE (2005)
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
CC Tzeng et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles
Y Curlis et al.
HUMAN BIOLOGY (2005)
Paternal transmission of fragile X syndrome
S Zeesman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
SL Nolin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
FMR1 and the fragile X syndrome:: Human genome epidemiology review
DC Crawford et al.
GENETICS IN MEDICINE (2001)
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
H Toledano-Alhadef et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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