Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?-Reference-Cited by-同舟云学术

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Published:2017-04-25 Issue:6 Volume:173 Page:1593-1600
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yu Andrea C.¹^ORCID,Zambrano Regina M.²,Cristian Ingrid³,Price Sue⁴,Bernhard Birgitta⁵,Zucker Marc⁶,Venkateswaran Sunita⁷,McGowan-Jordan Jean⁸,Armour Christine M.¹⁹

Affiliation:

1. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

2. Division of Clinical Genetics; Department of Pediatrics; Louisiana State University Health Science Center; New Orleans Louisiana

3. Division of Genetics and Metabolism, Department of Pediatrics; Nemours Children's Hospital Orlando; Orlando Florida

4. Oxford Regional Genetic Service; Churchill Hospital; Oxford UK

5. North West Thames Regional Genetic Service; North West London Hospitals; Greater London England

6. Department of Pediatrics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

7. Division of Neurology; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

8. Department of Pathology and Laboratory Medicine; University of Ottawa; Ottawa Ontario Canada

9. Children's Hospital of Eastern Ontario Research Institute; Ottawa; Ontario Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. DNA-damage response, survival and differentiation in vitro of a human neural stem cell line in relation to ATM expression;Carlessi;Cell Death and Differentiation,2009

2. G-Protein genomic association with normal variation in gray matter density;Chen;Human Brain Mapping,2015

3. A copy number variation morbidity map of developmental delay;Cooper;Nature Genetics,2011

4. Translational analysis of mouse and human placental protein and mRNA reveals distinct molecular pathologies in human preeclampsia;Cox;Molecular & Cellular Proteomics,2011

5. Identification and characterization of human archaemetzincin-1 and −2, two novel members of a family of metalloproteases widely distributed in Archaea;Diaz-Perales;The Journal of Biological Chemistry,2005

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