17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5-Reference-Cited by-同舟云学术

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

Published:2018-07-18 Issue:10 Volume:103 Page:3601-3610
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Roehlen Natascha¹,Hilger Hanna¹,Stock Friedrich²,Gläser Birgitta²,Guhl Johannes³,Schmitt-Graeff Annette⁴,Seufert Jochen¹,Laubner Katharina¹

Affiliation:

1. Division of Endocrinology and Diabetology, Department of Medicine II, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

2. Institute of Human Genetics, Medical Faculty, University of Freiburg, Freiburg, Germany

3. General Practice and Family Medicine, Villingen-Schwenningen, Germany

4. Institute for Clinical Pathology, Medical Faculty, University of Freiburg, Freiburg, Germany

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/103/10/3601/25902287/jc.2018-00955.pdf

Reference46 articles.

1. MODY: history, genetics, pathophysiology, and clinical decision making;Fajans;Diabetes Care,2011

2. HNF1B-associated renal and extra-renal disease: an expanding clinical spectrum;Clissold;Nat Rev Nephrol,2015

3. The role of hepatocyte nuclear factor 1β in disease and development;El-Khairi;Diabetes Obes Metab,2016

4. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY;Horikawa;Nat Genet,1997

5. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome;Laffargue;Arch Dis Child,2015

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1. HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report;Frontiers in Genetics;2024-08-16

2. Precision treatment of beta-cell monogenic diabetes: a systematic review;Communications Medicine;2024-07-18

3. A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied;The Application of Clinical Genetics;2024-07

4. Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities;Frontiers in Genetics;2024-06-18

5. Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations;Internal Medicine;2024-03-01