Associated Papers
Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.
Soreze YD et al.
Plos One, 2025
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.
Shinohara H et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Benign Hereditary Chorea: An Update.
Peall KJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Veneziano L et al.
Cerebellum (london, England), 2014
Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
Nettore IC et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
Guillot L et al.
Human Mutation, 2010
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