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

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

(2013) Aaron Hamvas et al.   CHEST

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate

(2013) E S Gillett et al.   Journal of Perinatology

Identification and Functional Characterization of a Novel Mutation in the NKX2-1 Gene: Comparison with the Data in the Literature

(2013) Immacolata Cristina Nettore et al.   THYROID

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study

(2012) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate ofNKX2.1Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome

(2012) Raphaël Teissier et al.   Hormone Research in Paediatrics

Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation

(2012) Takashi Konishi et al.   JOURNAL OF NEUROLOGY

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene

(2012) Domitille Gras et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Benign hereditary chorea: Clinical features and long-term follow-up in a Spanish family

(2012) Angel P. Sempere et al.   PARKINSONISM & RELATED DISORDERS

In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1

(2011) Daniel Silberschmidt et al.   BMC DEVELOPMENTAL BIOLOGY

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

(2011) Carmen Fons et al.   BRAIN & DEVELOPMENT

Hypoperfusion in caudate nuclei in patients with brain–lung–thyroid syndrome

(2011) Mitsugu Uematsu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

(2011) Katsuya Nakamura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Benign hereditary chorea: An update

(2011) Rivka Inzelberg et al.   PARKINSONISM & RELATED DISORDERS

Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh

(2011) Barreiro Jesús et al.   Journal of Clinical Research in Pediatric Endocrinology

Benign hereditary chorea Clinical and genetic aspects

(2010) Peter S. Harper   CLINICAL GENETICS

Benign Hereditary Chorea-Response to Steroids

(2010) R. O. Robinson et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene

(2010) S. Accornero et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Benign hereditary chorea: Clinical and neuroimaging features in an Italian family

(2010) Elena Salvatore et al.   MOVEMENT DISORDERS

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

(2009) A. Carre et al.   HUMAN MOLECULAR GENETICS

Epigenetic Mechanisms Modulate Thyroid Transcription Factor 1-mediated Transcription of the Surfactant Protein B Gene

(2009) Yuxia Cao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

“Jerky” dystonia in children: Spectrum of phenotypes and genetic testing

(2009) Friedrich Asmus et al.   MOVEMENT DISORDERS

Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with ade NovoHeterozygous Mutation in theTITF1/NKX2.1Gene

(2008) Emilie Maquet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation

(2008) Amir Glik et al.   MOVEMENT DISORDERS

A Novel NKX2.1 Mutation in a Family with Hypothyroidism and Benign Hereditary Chorea

(2008) Alfonso Massimiliano Ferrara et al.   THYROID

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

(2007) Claudia Provenzano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES