Associated Papers
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
Seifi M et al.
Plos One, 2018
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants.
Quentien MH et al.
Endocrinology, 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
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 2002
Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA et al.
Cellular and Molecular Life Sciences : Cmls, 2000
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Banerjee-Basu S et al.
Human Mutation, 1999
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
Amendt BA et al.
The Journal of Biological Chemistry, 1998
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