The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome-Reference-Cited by-同舟云学术

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome

Published:2015-12 Issue:12 Volume:19 Page:684-691
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Vals Mari-Anne¹²³,Yakoreva Maria¹²,Kahre Tiina¹²,Mee Pille⁴,Muru Kai¹²,Joost Kairit¹,Teek Rita¹²,Soellner Lukas⁵,Eggermann Thomas⁵,Õunap Katrin¹²

Affiliation:

1. Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

2. Department of Pediatrics, University of Tartu, Tartu, Estonia.

3. Children's Clinic, Tartu University Hospital, Tartu, Estonia.

4. United Laboratories, Tartu University Hospital, Tartu, Estonia.

5. Institute of Human Genetics, RWTH Aachen, Aachen, Germany.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2015.0163

Reference30 articles.

1. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

2. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

3. Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

4. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

5. Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci

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