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Hormone Research in Paediatrics|March 25, 2025
Nonmalignant Adrenocorticotrophic Hormone-Independent Cushing's Syndrome in Pediatric Patients: A Retrospective Observational Cohort StudyMyriam Hassan, Dinane Samara-Boustani, Alix Besançon, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.The Lancet. Diabetes & Endocrinology|October 16, 2021
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort studyFanny Chasseloup, Isabelle Bourdeau, Antoine Tabarin, et al.Diabetes|June 23, 2009
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variantsTamara J Nicolson, Elisa A Bellomo, Nadeeja Wijesekara, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2014
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutationsCarine Villanueva, Elka Jacobson-Dickman, Cheng Xu, et al.Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.The Journal of Clinical Endocrinology and Metabolism|January 9, 2025
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort studyAthanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, et al.Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.European Journal of Endocrinology|April 25, 2024
Long-term weight gain in children with craniopharyngiomaSibylle Rovani, Victoria Butler, Dinane Samara-Boustani, et al.The Journal of Experimental Medicine|February 4, 2010
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IAnne Puel, Rainer Döffinger, Angels Natividad, et al.Pageof 34