Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Authors
Keywords
-
Journal
NEUROGENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-26
DOI
10.1007/s10048-021-00680-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started