Associated Papers
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Almatrafi AM et al.
Medicina (kaunas, Lithuania), 2023
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Bulut FD et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Hypopituitarism in five PROP1 mutation siblings: long-lasting natural course and the effects of growth hormone replacement introduction in middle adulthood.
Doknic M et al.
Pituitary, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
Bertko E et al.
Journal of Human Genetics, 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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Growth, development, puberty and adult height of patients with congenital multiple pituitary hormone deficiencies.
Haim-Pinhas H et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
Avbelj Stefanija M et al.
Hormone Research in Paediatrics, 2015
Notch signaling in postnatal pituitary expansion: proliferation, progenitors, and cell specification.
Nantie LB et al.
Molecular Endocrinology (baltimore, Md.), 2014
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS et al.
Indian Journal of Pediatrics, 2012
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
Nyström HF et al.
Pituitary, 2011
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orvosi Hetilap, 2011
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
[Evaluation of pituitary imaging in patients with prop-1 gene mutation].
Tkacenko N et al.
Medicina (kaunas, Lithuania), 2009
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
Northup JK et al.
American Journal of Medical Genetics. Part A, 2008
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
Clinical manifestations of impaired GnRH neuron development and function.
Kim HG et al.
Neuro-signals, 2008
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
Vieira TC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Hypothalamic and pituitary development: novel insights into the aetiology.
Kelberman D et al.
European Journal of Endocrinology, 2007
Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
Ward RD et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2007
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
Halász Z et al.
Endocrine, 2006
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.
Vieira TC 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
Role of prophet of Pit1 (PROP1) in gonadotrope differentiation and puberty.
Vesper AH et al.
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
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
Reynaud R et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Role of PROP1 in pituitary gland growth.
Ward RD et al.
Molecular Endocrinology (baltimore, Md.), 2005
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
Tatsumi KI et al.
Clinical Endocrinology, 2004
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
Lee JK et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations.
Voutetakis A et al.
Fertility and Sterility, 2004
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.
Guy JC et al.
Gene, 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
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).
Voutetakis A et al.
European Journal of Endocrinology, 2004
[Genetic aspects in congenital hypothyrodism].
Perone D et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 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