Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation (Q34344840)

1 August 2017

title

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation (English)

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Treacher Collins syndrome

1 August 2017

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Gabriele Gillessen-Kaesbach

inferred from title

author

2

object named as

Gabriele Gillessen-Kaesbach

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Anita Rauch

18

object named as

Anita Rauch

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1 August 2017

Ozge Altug Teber

1

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Sven Fischer

3

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Stefan Böhringer

4

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Beate Albrecht

5

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Angelika Albert

6

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Mine Arslan-Kirchner

7

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Eric Haan

8

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Monika Hagedorn-Greiwe

9

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Christof Hammans

10

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Wolfram Henn

11

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Georg Klaus Hinkel

12

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Rainer König

13

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Erdmute Kunstmann

14

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Jürgen Kunze

15

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Luitgard M Neumann

16

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Eva-Christina Prott

17

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Hans-Dieter Rott

19

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Heide Seidel

20

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Stephanie Spranger

21

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Martin Sprengel

22

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Barbara Zoll

23

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Dietmar R Lohmann

24

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Dagmar Wieczorek

25

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publication date

1 November 2004

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European Journal of Human Genetics

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published in

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volume

12

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1 August 2017

issue

11

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page(s)

879-890

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Treacher Collins syndrome

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cites work

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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/10.1038%2FSJ.EJHG.5201260

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/10.1038%2FSJ.EJHG.5201260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

Choanal atresia and associated multiple anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

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/10.1038%2FSJ.EJHG.5201260

7 January 2021

Mutation testing in Treacher Collins Syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201260

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201260

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1 August 2017

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