MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

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

(2013) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

(2012) Liborio Stuppia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

(2011) Soo-Jeong Kim et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

(2011) Liangjing Chen et al.   GENETICS IN MEDICINE

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

(2010) Simona Cavani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Application of MLPA assay to characterize unsolved α-globin gene rearrangements

(2010) Alessia Colosimo et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Detection, Analysis and Clinical Validation of Chromosomal Aberrations by Multiplex Ligation-Dependent Probe Amplification in Chronic Leukemia

(2010) Adam Abdool et al.   PLoS One

FMR1: A gene with three faces

(2009) Ben A Oostra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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