Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation-Reference-Cited by-同舟云学术

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Published:2014-08-22 Issue:10 Volume:35 Page:1211-1220
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Azzi Salah¹²³,Blaise Annick¹²,Steunou Virginie¹,Harbison Madeleine D.⁴,Salem Jennifer⁵,Brioude Frédéric¹³,Rossignol Sylvie¹²³,Habib Walid Abi¹²³,Thibaud Nathalie³,Neves Cristina Das³,Jule Marilyne Le³,Brachet Cécile⁶,Heinrichs Claudine⁶,Bouc Yves Le¹²³,Netchine Irène¹²³

Affiliation:

1. INSERM; UMR_S 938, CDR Saint-Antoine; Paris F-75012 France

2. Sorbonne Universités; UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine; Paris F-75012 France

3. APHP; Armand Trousseau Hospital, Pediatric Endocrinology; Paris France

4. Ichan School of Medicine at Mount Sinai; Department of Pediatrics; New York New York

5. The MAGIC Foundation; The RSS/SGA Research & Education Fund; Chicago Illinois

6. Reine Fabiola Children's Hospital; U.L.B., Pediatric Endocrinology; Brussels 1020 Belgium

Funder

Agence nationale de la recherche (ANR), ANSILPRA

Institut National de la recherche mï¿½dicale (INSERM)

The People Programme (Marie Curie Actions) of the European Union's Seventh Framework Programme FP7/2007-2013

Universitï¿½ Pierre et Marie Curie (UMPC)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22623/fullpdf

Reference52 articles.

1. Beckwith-Wiedemann and Russell-Silver syndromes: from new molecular insights to the comprehension of imprinting regulation;Azzi;Curr Opin Endocrinol Diabetes Obes,2014

2. Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms;Azzi;Curr Pharm Des,2014

3. Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases;Azzi;Epigenetics,2010

4. 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;Azzi;Hum Mol Genet,2009

5. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes;Azzi;Hum Mutat,2011

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