(Q34411726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature (English)

1 reference

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10 January 2020

3

1 reference

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10 January 2020

author name string

Alessandra Splendore

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Roberto D Fanganiello

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Lucas S C Morganti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

M Rita Passos-Bueno

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

1 May 2005

1 reference

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10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832313%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

25

1 reference

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10 January 2020

issue

5

1 reference

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10 January 2020

page(s)

429-434

1 reference

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Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

10 January 2020

cites work

1 reference

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

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7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

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7 January 2021

Tracher Collins syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

1 reference

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7 January 2021

Mutation testing in Treacher Collins Syndrome

1 reference

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7 January 2021

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types.

1 reference

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7 January 2021

Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20159

7 January 2021