Silver-Russell-Kleinwuchs
Author:
Publisher
Springer Science and Business Media LLC
Subject
Surgery,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00112-011-2386-6.pdf
Reference27 articles.
1. Azzi S, Rossignol S, Steunou V et al (2009) Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 18:4724–4733
2. Bartholdi D, Krajewska-Walasek M, Ounap K et al (2009) 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. J Med Genet 46:192–197
3. Binder G, Seidel AK, Weber K et al (2006) IGFII serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. J Clin Endocrinol Metab 91:4709–4712
4. Bliek J, Terhal P, Bogaard MJ van den et al (2006) Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 78:604–614
5. Bliek J, Verde G, Callaway J et al (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611–619
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Diagnostik und Therapie des Silver-Russell-Syndroms;Monatsschrift Kinderheilkunde;2017-06-20
2. Genetische Formen des Kleinwuchses und neue Behandlungskonzepte;Monatsschrift Kinderheilkunde;2014-03-29
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