Clinical case seminar: A novel LHX3 mutation presenting as combined pituitary hormonal deficiency
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A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism
Castinetti F et al. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. J Clin Endocrinol Metab 2008 93 2790-2799
Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors
Howard PW, Maurer RA. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. J Biol Chem 2000 275 13336-13342
A point mutation in the LIM domain of LHX3 reduces activation of the glycoprotein hormone alpha subunit promoter
Howard PW, Maurer RA. A point mutation in the LIM domain of LHX3 reduces activation of the glycoprotein hormone alpha subunit promoter. J Biol Chem 2001 276 19020-19026
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
Kelberman D, Dattani MT. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med 2006 38 560-577
Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects
Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. J Clin Endocrinol Metab 2005 90 5456-5462
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. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J Clin Endocrinol Metab 2000 85 2779-2785
A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency
Pellegrini-Bouiller I et al. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1996 81 2790-2796
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies
Pfaeffle RW et al. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab 2008 93 1062-1071
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation
Riepe FG et al. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 2001 86 4353-4357
A novel missense mutation (P366 T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica
Tajima T et al. A novel missense mutation (P366 T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J 2007 54 637-641
Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor
West BE et al. Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor. Endocrinology 2004 145 4866-4879