Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations-Reference-Cited by-同舟云学术

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

Published:2019-02-04 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Grand Katheryn¹^ORCID,Gonzalez‐Gandolfi Christina¹,Ackermann Amanda M.²³^ORCID,Aljeaid Deema⁴⁵^ORCID,Bedoukian Emma¹^ORCID,Bird Lynne M.⁶,De Leon Diva D.²³,Diaz Jullianne⁷^ORCID,Hopkin Robert J.⁴⁸,Kadakia Sejal P.⁹,Keena Beth¹,Klein Karen O.⁹,Krantz Ian¹³,Leon Eyby⁷,Lord Katherine²³,McDougall Carey¹,Medne Livija¹,Skraban Cara M.¹³,Stanley Charles A.²³,Tarpinian Jennifer¹,Zackai Elaine¹³,Deardorff Matthew A.¹³,Kalish Jennifer M.¹³^ORCID

Affiliation:

1. Division of Human GeneticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. Division of Endocrinology and DiabetesThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Department of PediatricsPerelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania

4. Division of Human GeneticsCincinnati Children's Hospital Medical Center Cincinnati Ohio

5. Department of Genetic Medicine, Faculty of MedicineKing Abdulaziz University Jeddah Saudi Arabia

6. Department of Pediatrics, Division of GeneticsUniversity of San Diego, California and Rady Children's Hospital San Diego California

7. Rare Disease Institute ‐ Genetics and Metabolism, Children's National Health System Washington District of Columbia

8. Department of PediatricsUniversity of Cincinnati College of Medicine Cincinnati Ohio

9. Department of Pediatrics, Division of EndocrinologyUniversity of San Diego, California and Rady Children's Hospital San Diego California

Funder

Alex's Lemonade Stand Foundation for Childhood Cancer

St. Baldrick's Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61062

Reference19 articles.

1. The PHD finger: Implications for chromatin‐mediated transcriptional regulation;Aasland R.;Trends in Biochemical Sciences,1995

2. Integration of ATAC‐seq and RNA‐seq identifies human alpha cell and beta cell signature genes;Ackermann A. M.;Molecular Metabolism,2016

3. Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation;Carrasco Salas P.;Am J Med Genet Part a,2016

4. Sotos syndrome;Cole T. R.;Journal of Medical Genetics,1990

5. Sotos syndrome: A study of the diagnostic criteria and natural history;Cole T. R.;Journal of Medical Genetics,1994

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