Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology,Genetics,Molecular Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s40291-022-00587-1.pdf
Reference73 articles.
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2. Yakoreva M, Kahre T, Zordania R, Reinson K, Teek R, Tillmann V, et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet. 2019;27(11):1649–58. https://doi.org/10.1038/s41431-019-0446-x.
3. Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet. 2010;47(11):760–8. https://doi.org/10.1136/jmg.2010.079111.
4. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015;52(7):446–53. https://doi.org/10.1136/jmedgenet-2014-102979.
5. Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13(2):105–24. https://doi.org/10.1038/nrendo.2016.138.
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1. Imprinting disorders;Nature Reviews Disease Primers;2023-06-29
2. Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith‐Wiedemann syndrome: A case report;American Journal of Medical Genetics Part A;2023-01-03
3. Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum;Genes;2022-10-16
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