Mutation testing in Treacher Collins Syndrome (Q78551550)

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15 December 2019

title

Mutation testing in Treacher Collins Syndrome (English)

1 reference

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Treacher Collins syndrome

15 December 2019

main subject

1 reference

Ellis PE

1 reference

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15 December 2019

Dawson M

series ordinal

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15 December 2019

Dixon MJ

series ordinal

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15 December 2019

publication date

1 December 2002

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15 December 2019

published in

Journal of Orthodontics

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15 December 2019

volume

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15 December 2019

issue

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15 December 2019

page(s)

293-7; discussion 278

1 reference

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The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees

15 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Mandibulofacial dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Midtrimester sonographic diagnosis of mandibulofacial dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Prenatal diagnosis of mandibulofacial dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FORTHO%2F29.4.293

21 January 2018

Identifiers

DOI

10.1093/ORTHO/29.4.293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12444270%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12444270%20AND%20SRC:MED&resulttype=core&format=json