Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA et al.
Archives of Endocrinology and Metabolism, 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
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
Ziemnicka K et al.
Journal of Applied Genetics, 2016
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orvosi Hetilap, 2011
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.
Obermannova B et al.
Hormone Research in Paediatrics, 2011
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.
Kerr J et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2008
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
Halász Z et al.
Endocrine, 2006
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
Lemos MC et al.
Clinical Endocrinology, 2006
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Abrão MG et al.
Clinical Endocrinology, 2006
Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.
Nascif SO et al.
Pituitary, 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
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
Tatsumi KI et al.
Clinical Endocrinology, 2004
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.
Voutetakis A et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Cushing's disease as the first clinical manifestation of multiple endocrine neoplasia type 1 (MEN1) associated with an R460X mutation of the MEN1 gene.
Matsuzaki LN et al.
Clinical Endocrinology, 2004
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
Paracchini R et al.
Clinical Genetics, 2003
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.
Lamesch C et al.
Pituitary, 2002
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
The molecular basis for developmental disorders of the pituitary gland in man.
Dattani MT et al.
Clinical Genetics, 2000
PROP-1 gene mutations in a 63-year-old woman presenting with osteoporosis and hyperlipidaemia.
Andrikoula M et al.
Hormones (athens, Greece), 0