(Q45298770)

11 December 2017

title

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea (English)

1 reference

11 December 2017

0 references

8

1 reference

11 December 2017

Anabela Ferro

6

0 references

Jorge Sequeiros

object named as

Jorge Sequeiros

7

0 references

Maria do Carmo Costa

object named as

Maria do Carmo Costa

1

0 references

author name string

Cristina Costa

2

1 reference

11 December 2017

Ana Paula Silva

3

1 reference

11 December 2017

Pedro Evangelista

4

1 reference

11 December 2017

Luís Santos

5

1 reference

11 December 2017

publication date

12 October 2005

1 reference

11 December 2017

1 reference

11 December 2017

volume

6

1 reference

11 December 2017

issue

4

1 reference

11 December 2017

page(s)

209-215

1 reference

Clinical and genetic heterogeneity in benign hereditary chorea

11 December 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0013-1

Structure of the human Nkx2.1 gene

21 January 2018

2 references

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0013-1

21 January 2018

12 December 2020

Mutations in TITF-1 are associated with benign hereditary chorea

1 reference

12 December 2020

Hereditary nonprogressive chorea of early onset

1 reference

12 December 2020

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

1 reference

12 December 2020

Two functionally distinct forms of NKX2.1 protein are expressed in the pulmonary epithelium

1 reference

12 December 2020

NK-2 homeobox genes and heart development

1 reference

12 December 2020

A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa

1 reference

12 December 2020

Elongation of helix III of the NK-2 homeodomain upon binding to DNA: a secondary structure study by NMR.

1 reference

12 December 2020

Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum

1 reference

12 December 2020

Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure

1 reference

12 December 2020

Intramolecular control of transcriptional activity by the NK2-specific domain in NK-2 homeodomain proteins

1 reference

12 December 2020

Benign hereditary chorea of early onset maps to chromosome 14q.

1 reference

12 December 2020

Benign hereditary chorea Clinical and genetic aspects

1 reference

12 December 2020

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

1 reference

12 December 2020

Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

1 reference

12 December 2020

Benign hereditary chorea: clinical, genetic, and pathological findings

1 reference

12 December 2020

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

1 reference

12 December 2020

Redundant Domains Contribute to the Transcriptional Activity of the Thyroid Transcription Factor 1

1 reference

12 December 2020

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

1 reference

12 December 2020

Structural study of rat thyroid transcription factor 1 homeodomain (TTF-1 HD) by nuclear magnetic resonance

1 reference

12 December 2020

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

1 reference

12 December 2020

Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity

1 reference

12 December 2020

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

1 reference

12 December 2020

NMR assignments of the DNA-bound human Csx/Nkx2.5 homeodomain and NK2-specific domain

1 reference

12 December 2020

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

12 December 2020

Benign hereditary chorea--entity or syndrome?

1 reference

12 December 2020

10.1007/S10048-005-0013-1

Identifiers

DOI

1 reference

Dimensions Publication ID

11 December 2017

1003386425

0 references

1 reference