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Diabetes Care|November 13, 2020
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal DiabetesPamela Bowman, Frances Mathews, Fabrizio Barbetti, et al.
Frontiers in Endocrinology|March 11, 2021
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to DyshormonogenesisAthanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, et al.
Pediatric Research|August 2, 2008
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic De Pontual, Delphine Trochet, Sophie Caillat-Zucman, et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|May 16, 2026
Rare Causes of Pediatric Primary Adrenal Insufficiency: An Observational Cohort StudyMathilde Schermesser-Sicard, Dinane Samara-Boustani, Florence Roucher-Boulez, et al.
The Journal of Biological Chemistry|May 20, 2011
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitusAmélie Bonnefond, Gwen Lomberk, Navtej Buttar, et al.
European Journal of Endocrinology|December 17, 2025
PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical diseasePatricia Vaduva, Florian Violon, Albain Chansavang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiencyAthanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, et al.
Nature Communications|January 17, 2025
Interferon-α promotes HLA-B-restricted presentation of conventional and alternative antigens in human pancreatic β-cellsAlexia Carré, Fatoumata Samassa, Zhicheng Zhou, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Thyroid : Official Journal of the American Thyroid Association|December 4, 2020
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for EndocrinologyPaul van Trotsenburg, Athanasia Stoupa, Juliane Léger, et al.
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