22q11.2 deletion syndrome in diverse populations-Reference-Cited by-同舟云学术

22q11.2 deletion syndrome in diverse populations

Published:2017-03-22 Issue:4 Volume:173 Page:879-888
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kruszka Paul¹^ORCID,Addissie Yonit A.¹,McGinn Daniel E.²,Porras Antonio R.³,Biggs Elijah³,Share Matthew²,Crowley T. Blaine²,Chung Brian H. Y.⁴,Mok Gary T. K.⁴,Mak Christopher C. Y.⁴,Muthukumarasamy Premala⁵,Thong Meow-Keong⁵,Sirisena Nirmala D.⁶,Dissanayake Vajira H. W.⁶,Paththinige C. Sampath⁶,Prabodha L. B. Lahiru⁶,Mishra Rupesh⁶,Shotelersuk Vorasuk⁷,Ekure Ekanem Nsikak⁸,Sokunbi Ogochukwu Jidechukwu⁸,Kalu Nnenna⁸,Ferreira Carlos R.⁹,Duncan Jordann-Mishael¹,Patil Siddaramappa Jagdish¹⁰,Jones Kelly L.¹¹,Kaplan Julie D.¹¹,Abdul-Rahman Omar A.¹¹,Uwineza Annette¹²,Mutesa Leon¹²,Moresco Angélica¹³,Obregon María Gabriela¹³,Richieri-Costa Antonio¹⁴,Gil-da-Silva-Lopes Vera L.¹⁵,Adeyemo Adebowale A.¹⁶,Summar Marshall⁹,Zackai Elaine H.²,McDonald-McGinn Donna M.²,Linguraru Marius George³,Muenke Maximilian¹

Affiliation:

1. Medical Genetics Branch, National Human Genome Research Institute; The National Institutes of Health; Bethesda Maryland

2. Division of Human Genetics; 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

3. Sheikh Zayed Institute for Pediatric Surgical Innovation; Children's National Health System; Washington, D.C

4. Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine; The University of Hong Kong; Hong Kong Special Administrative Region Hong Kong China

5. Faculty of Medicine, Department of Paediatrics; University of Malaya; Kuala Lumpur Malaysia

6. Faculty of Medicine, Human Genetics Unit; University of Colombo; Sri Lanka

7. Center of Excellence for Medical Genetics; Faculty of Medicine, Department of Pediatrics, Chulalongkorn University; Bangkok Thailand

8. Department of Paediatrics College of Medicine; University of Lagos, Lagos University Teaching; Lagos Nigeria

9. Division of Genetics and Metabolism; Children's National Health System; Washington, D.C

10. Mazumdar Shaw Medical Center; Narayana Health City; Bangalore India

11. Division of Medical Genetics, Department of Pediatrics; University of Mississippi Medical Center; Jackson Mississippi

12. Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences; University of Rwanda; Kigali Rwanda

13. Servicio de Genética; Hospital de Pediatría Garrahan; Buenos Aires Argentina

14. Hospital for the Rehabilitation of Craniofacial Anomalies; São Paulo University; Bauru Brazil

15. Department of Medical Genetics; University of Campinas; São Paulo Brazil

16. Center for Research on Genomics and Global Health, National Human Genome Research Institute; The National Institutes of Health; Bethesda Maryland

Funder

National Institutes of Health

Chulalongkorn Academic Advancement Into Its 2nd Century Project

Government of Abu Dhabi to the Children's National Health System

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38199/fullpdf

Reference32 articles.

1. https://www.genome.gov/atlas 2016

2. Practical guidelines for managing patients with 22q11.2 deletion syndrome;Bassett;Jornal de Pediatria,2011

3. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population;Botto;Pediatrics,2003

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