Associated Papers
Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.
Zygmunt-Górska A et al.
Hormones (athens, Greece), 2024
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M et al.
Clinical Endocrinology, 2021
Congenital Hypopituitarism: Various Genes, Various Phenotypes.
Xatzipsalti M et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Pituitary Transcription Factor Mutations Leading to Hypopituitarism.
Gergics P
Experientia Supplementum (2012), 2019
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL et al.
Clinical Endocrinology, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
Dusatkova P et al.
European Journal of Human Genetics : Ejhg, 2016
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
Avbelj Stefanija M et al.
Hormone Research in Paediatrics, 2015
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
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