Molecular diagnosis of Fragile X syndrome

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X

(2010) Grant R. Sutherland et al.   CLINICAL GENETICS

MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

(2008) Bradford Coffee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X syndrome

(2008) Kathryn B Garber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive high-throughput arrays for relative methylation (CHARM)

(2008) R. A. Irizarry et al.   GENOME RESEARCH

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Enables a Rapid and Reliable Distinction between Male FMR1 Premutation and Full-Mutation Alleles

(2008) Anders O.H. Nygren et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

(2008) Joo Wook Ahn et al.   Molecular Cytogenetics

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

(2007) Jean Amos Wilson et al.   JOURNAL OF MOLECULAR DIAGNOSTICS