Associated Papers
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.
Durmaz B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Septo-optic dysplasia - novel insights into the aetiology.
Kelberman D et al.
Hormone Research, 2008
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
Sobrier ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
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