(Q40105053)

17 September 2017

title

Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus (English)

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17 September 2017

main subject

Hirschsprung's disease

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6

Man-ting So

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17 September 2017

author name string

Maria-Mercè Garcia-Barceló

1

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17 September 2017

Danny Ko-chun Lau

2

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17 September 2017

Elly Sau-wai Ngan

3

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17 September 2017

Thomas Yuk-yu Leon

4

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17 September 2017

Ting-ting Liu

5

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17 September 2017

Xiao-ping Miao

7

1 reference

17 September 2017

Vincent Chi-hang Lui

8

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17 September 2017

Kenneth Kak-yuen Wong

9

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17 September 2017

Raymond William Ganster

10

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17 September 2017

Daniel Thomas Cass

11

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17 September 2017

Geoffrey David Hain Croaker

12

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17 September 2017

Paul Kwong-hang Tam

13

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17 September 2017

language of work or name

English

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publication date

19 July 2007

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17 September 2017

published in

Annals of Human Genetics

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17 September 2017

volume

71

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17 September 2017

issue

Pt 6

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17 September 2017

page(s)

746-754

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Hirschsprung disease, associated syndromes, and genetics: a review

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Hirschsprung's disease, colonic atresia, and absent hand: a new triad

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Structure of the human Nkx2.1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

The association of congenital hypothyroidism and congenital gastrointestinal anomalies in Down's syndrome infants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Thyroid-specific enhancer-binding protein/thyroid transcription factor 1 is not required for the initial specification of the thyroid and lung primordia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Enteric nervous system: development and developmental disturbances--part 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Prokineticin-1 modulates proliferation and differentiation of enteric neural crest cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Genetics of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Genetics of congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00384.X

10.1111/J.1469-1809.2007.00384.X

21 January 2018

Identifiers

DOI

1 reference

17 September 2017

1 reference