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Article

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

Clinical endocrinology - 1 Oct 2006

Lemos Manuel C, Gomes Leonor, Bastos Margarida, Leite Valeriano, Limbert Edward, Carvalho Davide, Bacelar Conceição, Monteiro Mariana, Fonseca Fernando, Agapito Ana, Castro João J, Regateiro Fernando J, Carvalheiro Manuela

Abstract excerpt

OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and...

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Source

Identifiers

PMID: 16984240
DOI: 10.1111/j.1365-2265.2006.02617.x

Genes

PROP1
PRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.PMID 16984240Read ↗

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.Semantic proximity Read ↗

Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 geneSemantic proximity Read ↗

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Semantic proximity Read ↗

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.Semantic proximity Read ↗

Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).Semantic proximity Read ↗

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.Semantic proximity Read ↗

Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.Semantic proximity Read ↗

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