Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes
Author:
Affiliation:
1. Unidad de Genética y Diagnóstico Prenatal. Hospital Universitario La Fe, Valencia, Spain.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.10.174
Reference14 articles.
1. Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis
2. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
3. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
4. Problems in detecting mosaic DNA methylation in Angelman syndrome
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1. A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics;Frontiers in Genetics;2021-05-11
2. Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome;Orphanet Journal of Rare Diseases;2021-05-05
3. In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients;BioMed Research International;2015
4. Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus;The Journal of Clinical Endocrinology & Metabolism;2012-06-01
5. Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features;Journal of Human Genetics;2012-01-05
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