PMID 24930029 2014 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.
PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.
PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
PMID 26196025 2015 Benign Hereditary Chorea: An Update.
PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
PMID 21292530 2011 Benign hereditary chorea: an update.
PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
PMID 24930029 2014 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.
PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.
PMID 21292530 2011 Benign hereditary chorea: an update.
PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.
PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.