Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype-Reference-Cited by-同舟云学术

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Published:2013-11-08 Issue:12 Volume:161 Page:2972-2980
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tatton-Brown Katrina¹,Murray Anne¹,Hanks Sandra¹,Douglas Jenny¹,Armstrong Ruth²,Banka Siddharth³,Bird Lynne M.⁴,Clericuzio Carol L.⁵,Cormier-Daire Valerie⁶,Cushing Tom⁵,Flinter Frances⁷,Jacquemont Marie-Line⁸,Joss Shelagh⁹,Kinning Esther⁹,Lynch Sally Ann¹⁰,Magee Alex¹¹,McConnell Vivienne¹¹,Medeira Ana¹²,Ozono Keiichi¹³,Patton Michael¹⁴,Rankin Julia¹⁵,Shears Debbie¹⁶,Simon Marleen¹⁷,Splitt Miranda¹⁸,Strenger Volker¹⁹,Stuurman Kyra²⁰,Taylor Clare²¹,Titheradge Hannah²²,Van Maldergem Lionel²³,Temple I. Karen²⁴,Cole Trevor²²,Seal Sheila¹,Rahman Nazneen¹,

Affiliation:

1. Division of Genetics & Epidemiology; Institute of Cancer Research; Sutton UK

2. Department of Medical Genetics; Addenbrooke's Hospital; Cambridge UK

3. Centre for Genetic Medicine; Institute of Human Development; University of Manchester; Manchester UK

4. University of California, San Diego, and Rady Children's Hospital; San Diego California

5. Pediatric Genetics; University of New Mexico; Albuquerque New Mexico

6. Department of Medical Genetics; Hopital Necker Enfants Malades; Paris France

7. Clinical Genetics; Guy's and St Thomas' Foundation Trust; London UK

8. Unité de Génétique Médicale; CHU La Réunion; Réunion France

9. Clinical Genetics; West of Scotland Genetics Service; Glasgow UK

10. National Centre for Medical Genetics; Dublin The Republic of Ireland

11. Northern Ireland Regional Genetics Service; Belfast City Hospital; Belfast Northern Ireland UK

12. Servico de Genetica; Hospital S Maria; Lisbon Portugal

13. Department of Developmental Medicine (Pediatrics); Osaka University Graduate School of Medicine; Osaka Japan

14. Medical Genetics; St George's University of London; London UK

15. Peninsula Clinical Genetics Service; Royal Devon and Exeter Foundation NHS Trust; Exeter UK

16. Department of Clinical Genetics; Churchill Hospital; Oxford UK

17. Department of Clinical Genetics; Erasmus Medical Centre; Rotterdam The Netherlands

18. Institute of Human Genetics; International Centre for Life; Newcastle upon Tyne UK

19. Department of Paediatrics and Adolescent Medicine; Medical University of Graz; Graz Austria

20. Department of Clinical Genetics; VU University Medical Centre; Amsterdam The Netherlands

21. Institute of Medical Genetics; University Hospital of Wales; Cardiff UK

22. West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham UK

23. Centre de Génétique Humaine; Université de Franche-Comté; Besançon France

24. Human Genetics and Genomic Medicine; Faculty of Medicine; University of Southampton; Southampton UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36229/fullpdf

Reference40 articles.

1. Further delineation of Weaver syndrome;Ardinger;J Pediatr,1986

2. Weaver syndrome: A report of a rare genetic syndrome;Bansal;Indian J Hum Genet,2009

3. Acute lymphoblastic leukemia in Weaver syndrome;Basel-Vanagaite;Am J Med Genet Part A,2010

4. Role of histone H3 lysine 27 methylation in Polycomb-group silencing;Cao;Science,2002

5. Akt-mediated phosphorylation of EZH2 suppresses methylation of lysine 27 in histone H3;Cha;Science,2005

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