Associated Papers
Management of hypopituitarism during pregnancy in patients with PROP1-related combined pituitary hormone deficiency: Review of the literature with a case report.
Pigni S et al.
Pituitary, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.
Plachy L et al.
Endocrine Connections, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T et al.
Archives of Endocrinology and Metabolism, 2023
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Almatrafi AM et al.
Medicina (kaunas, Lithuania), 2023
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R et al.
European Journal of Endocrinology, 2022
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
Kaja E et al.
International Journal of Molecular Sciences, 2022
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Genetic causes of hypopituitarism.
Parkin K et al.
Archives of Medical Science : Ams, 2020
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B et al.
Frontiers in Endocrinology, 2020
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
Neocleous V et al.
Frontiers in Endocrinology, 2020
Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
Bajuk Studen K et al.
Endocrine, 2019
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA et al.
Archives of Endocrinology and Metabolism, 2019
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
Penta L et al.
International Journal of Molecular Sciences, 2019
Congenital Hypopituitarism: Various Genes, Various Phenotypes.
Xatzipsalti M et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Flück CE et al.
Frontiers in Genetics, 2019
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF et al.
Ebiomedicine, 2018
[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency].
Tőke J et al.
Orvosi Hetilap, 2018
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
Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation.
Brunerova L et al.
Frontiers in Endocrinology, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Genetic causes of isolated and combined pituitary hormone deficiency.
Giordano M
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
Cancerous leptomeningitis and familial congenital hypopituitarism.
Vujovic S et al.
Endocrine, 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
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
Rohayem J et al.
Hormone Research in Paediatrics, 2016
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
Navardauskaite R et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Case seminar: a young female with acute hyponatremia and a sellar mass.
Pekic S et al.
Endocrine, 2011
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orvosi Hetilap, 2011
Psychotic disturbances in adult female patient with congenital hypopituitarism due to mutation in PROP1 gene.
Skowrońska-Jóźwiak E et al.
Neuro Endocrinology Letters, 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
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
Reynaud R et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
Lebl J et al.
European Journal of Endocrinology, 2005
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Turton JP et al.
Clinical Endocrinology, 2005
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
Tatsumi KI et al.
Clinical Endocrinology, 2004
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
Böttner A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
Riepe FG et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
Osorio MG et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
The molecular basis for developmental disorders of the pituitary gland in man.
Dattani MT et al.
Clinical Genetics, 2000
Clinical Case Seminar. Peculiar prolactinomas in patients with pituitary developmental gene mutations: from an adult endocrinologist perspective.
Doknic M et al.
Hormones (athens, Greece), 0