11p15 ICR1 Partial Deletions Associated withIGF2/H19DMR Hypomethylation and Silver-Russell Syndrome-Reference-Cited by-同舟云学术

11p15 ICR1 Partial Deletions Associated withIGF2/H19DMR Hypomethylation and Silver-Russell Syndrome

Published:2016-10-26 Issue:1 Volume:38 Page:105-111
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abi Habib Walid¹²³,Brioude Frederic¹²³,Azzi Salah¹²³⁴,Salem Jennifer⁵,Das Neves Cristina³,Personnier Claire⁶,Chantot-Bastaraud Sandra⁷⁸,Keren Boris⁹,Le Bouc Yves¹²³,Harbison Madeleine D.¹⁰,Netchine Irene¹²³

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. AP-HP, Hôpital Trousseau; Service d'explorations fonctionnelles endocriniennes Paris 75571 France

4. Epigenetics Programme; The Babraham Institute; Cambridge UK

5. MAGIC Foundation; RSS/SGA Research and Education Fund; Oak Park Illinois

6. Centre Hospitalier Intercommunal; Service de Pédiatrie Poissy France

7. INSERM U933; Service de Génétique et d'Embryologie Médicales; Paris 75571 France

8. AP-HP, Hôpital Trousseau; Service de Génétique et d'Embryologie Médicales Paris 75571 France

9. Département de Génétique; CRICM UPMC INSERM UMR_S975/CNRS UMR 7225; GH Pitié-Salpêtrière, APHP Paris France

10. Department of Pediatrics; Icahn School of Medicine at Mount Sinai; New York USA

Funder

Institut National de la Santé Et de la Recherche Médicale

Université Pierre et Marie Curie

Agence Nationale de la Recherche

Pfizer grant; Agence de Biomédecine

Seventh Framework Programme

Société Française d'Endocrinologie et Diabétologie Pédiatrique with a Lilly grant

Novonordisk Grant «Growth Hormone, Growth and Metabolism»

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23131/fullpdf

Reference25 articles.

1. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome;Abi Habib;Hum Mol Genet,2014

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

3. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome;Azzi;J Med Genet,2015

4. 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

5. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature;Begemann;J Med Genet,2012

Cited by 29 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. Inadequate linear catch-up growth in children born small for gestational age: Influencing factors and underlying mechanisms;Reviews in Endocrine and Metabolic Disorders;2024-05-20

2. Long noncoding RNA (lncRNA) H19: An essential developmental regulator with expanding roles in cancer, stem cell differentiation, and metabolic diseases;Genes & Diseases;2023-07

3. Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior;Biomedicines;2023-06-07

4. Overexpression of IGF2 affects mouse weight and glycolipid metabolism and IGF2 is positively related to macrosomia;Frontiers in Endocrinology;2023-04-19

5. Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models;eLife;2022-11-28