EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome-Reference-Cited by-同舟云学术

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Published:2016-05-11 Issue:10 Volume:24 Page:1377-1387
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Eggermann Katja,Bliek Jet,Brioude Frédéric,Algar Elizabeth,Buiting Karin,Russo Silvia,Tümer Zeynep,Monk David,Moore Gudrun,Antoniadi Thalia,Macdonald Fiona,Netchine Irène,Lombardi Paolo,Soellner Lukas,Begemann Matthias,Prawitt Dirk,Maher Eamonn R,Mannens Marcel,Riccio Andrea,Weksberg Rosanna,Lapunzina Pablo,Grønskov Karen,Mackay Deborah JG,Eggermann Thomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201645.pdf

Reference56 articles.

1. Saal HM : Russell-Silver Syndrome; in Pagon RA, Adam MP, Ardinger HH et al (eds): GeneReviews(R) Seattle, WA, USA: University of Washington, 1993.

2. Azzi S, Blaise A, Steunou V et al: Complex tissue-specific epigenotypes in Russell–Silver syndrome associated with 11p15 ICR1 hypomethylation. Hum Mutat 2014; 35: 1211–1220.

3. Wakeling EL, Amero SA, Alders M et al: Epigenotype–phenotype correlations in Silver–Russell syndrome. J Med Genet 2010; 47: 760–768.

4. Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R : Adult height and epigenotype in children with Silver–Russell syndrome treated with GH. Horm Res Paediatr 2013; 80: 193–200.

5. Takenouchi T, Awazu M, Eggermann T, Kosaki K : Adult phenotype of Russell–Silver syndrome: a molecular support for Barker–Brenner's Theory. Congenit Anom (Kyoto) 2015; 55: 167–169.

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