Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency

(2018) Beatriz Villafuerte et al.   European Journal of Medical Genetics

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

(2018) Péter Balicza et al.   Frontiers in Genetics

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

(2018) A. Iodice et al.   BRAIN & DEVELOPMENT

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology

(2018) Flavia Niccolini et al.   MOVEMENT DISORDERS

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome

(2017) Pia Hermanns et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

(2016) Claudia Provenzano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ADCY5mutations are another cause of benign hereditary chorea

(2015) Niccolo E. Mencacci et al.   NEUROLOGY

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

(2014) Liana Veneziano et al.   CEREBELLUM

A Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis

(2014) Scott Williamson et al.   JOURNAL OF CHILD NEUROLOGY

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

(2013) Aaron Hamvas et al.   CHEST

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

(2013) Gai McMichael et al.   European Journal of Medical Genetics

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

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

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

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

(2009) Friedrich Asmus et al.   MOVEMENT DISORDERS

Mutation of a Gene for Thyroid Transcription Factor-1 (TITF1) in a Patient with Clinical Features of Resistance to Thyrotropin

(2008) Keisuke NAGASAKI et al.   ENDOCRINE JOURNAL

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

Persisting embryonal infundibular recess

(2008) Andrej Šteňo et al.   JOURNAL OF NEUROSURGERY

Abstracts of TheMovement Disorder Society's Twelfth International Congress of Parkinson's Disease and Movement Disorders

(2008)   MOVEMENT DISORDERS

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

(2008) Amir Glik et al.   MOVEMENT DISORDERS

Postmitotic Nkx2-1 Controls the Migration of Telencephalic Interneurons by Direct Repression of Guidance Receptors

(2008) Sandrina Nóbrega-Pereira et al.   NEURON

The Requirement of Nkx2-1 in the Temporal Specification of Cortical Interneuron Subtypes

(2008) Simon J.B. Butt et al.   NEURON

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