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Last Updated: 10/31/2025
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Found 267 publications
Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.
Journal: JCEM case reports
Published: July 01, 2025
The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.
Journal: American journal of physiology. Endocrinology and metabolism
Published: March 28, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Journal: eLife
Published: January 21, 2025
A rare case of PIK3R1 gene mutation associated SHORT syndrome
Journal: Zhonghua nei ke za zhi
Published: January 09, 2025
PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.
Journal: Journal of diabetes investigation
Published: January 08, 2025
A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.
Journal: Journal of diabetes investigation
Published: January 07, 2025
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.
Journal: Genes
Published: December 23, 2024
Identification of A Novel Mutation of SHORT Syndrome: A Case Report.
Journal: Clinical case reports
Published: September 15, 2024
Atypical diabetes arising from SHORT syndrome: a case report.
Journal: Frontiers in endocrinology
Published: July 19, 2024
Last Updated: 10/31/2025