Associated Papers
Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.
Kawauchi Y et al.
International Journal of Molecular Sciences, 2025
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature.
Chen WY et al.
Molecular Genetics and Metabolism Reports, 2021
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
Jadhav S et al.
Pituitary, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P et al.
American Journal of Human Genetics, 2021
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Turton JP et al.
Clinical Endocrinology, 2012
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS et al.
Indian Journal of Pediatrics, 2012
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
Tenenbaum-Rakover Y et al.
Clinical Endocrinology, 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
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.
Miyai K
Endocrine Journal, 2007
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton JP et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies.
Gat-Yablonski G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002
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
[Molecular genetics of congenital isolated thyrotropin deficiency].
Miyai K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994