Digenic heterozygousHNF1AandHNF4Amutations in two siblings with childhood-onset diabetes-Reference-Cited by-同舟云学术

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Digenic heterozygousHNF1AandHNF4Amutations in two siblings with childhood-onset diabetes

Published:2013-03-31 Issue:7 Volume:14 Page:535-538
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Shankar Roopa Kanakatti¹,Ellard Sian²,Standiford Debra¹,Pihoker Catherine³,Gilliam Lisa K⁴,Hattersley Andrew²,Dolan Lawrence M¹

Affiliation:

1. Division of Endocrinology; Cincinnati Children's Hospital Medical Center; Cincinnati OH USA

2. Institute of Biomedical and Clinical Science, Peninsula Medical School; University of Exeter; Exeter UK

3. Department of Pediatrics; University of Washington; Seattle WA USA

4. Department of Medicine; University of Washington; Seattle WA USA

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12018/fullpdf

Reference16 articles.

1. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young;Fajans;N Engl J Med,2001

2. The diagnosis and management of monogenic diabetes in children and adolescents;Hattersley;Pediatr Diabetes,2009

3. Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report;Forlani;Diabetes Care,2010

4. Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young;Beijers;Diabet Med,2009

5. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young;Ellard;Hum Mutat,2006

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2. NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report;Diagnostics;2021-06-25

3. A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes;European Journal of Medical Genetics;2021-06

4. Whole exome sequencing reveals novel candidate gene variants for MODY;Clinica Chimica Acta;2020-11

5. Rapid detection of type II diabetes mellitus in Saudi patients via simultaneous screening of multiple SNPs;Biotechnology & Biotechnological Equipment;2019-01-01

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