|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
|
28734020 |
2017 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
|
26059845 |
2016 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
|
26608600 |
2016 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
|
25581745 |
2015 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
|
26111865 |
2015 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
|
25557026 |
2015 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X).
|
22111336 |
2011 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.
|
22024773 |
2011 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.
|
22024773 |
2011 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
|
21132537 |
2011 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene.
|
20381582 |
2010 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
|
19128366 |
2009 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
|
19128366 |
2009 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
|
17526936 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
|
16984240 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
|
16735499 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.
|
17526949 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
|
17526936 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
|
16984240 |
2006 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
|
15941866 |
2005 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
|
15963055 |
2005 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
|
16131601 |
2005 |
|
Pituitary Dwarfism Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
|
15472175 |
2004 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
|
15531542 |
2004 |
|
Pituitary Dwarfism Type 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
|
15472232 |
2004 |