Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. (Q41192966)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25790162%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients (English)

1 reference

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Treacher Collins syndrome

3 March 2020

main subject

1 reference

Erratum: CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

inferred from title

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/GIM.2015.62

author

Stanislas Lyonnet

9

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3 March 2020

Marie Vincent

1

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3 March 2020

David Geneviève

2

1 reference

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3 March 2020

Agnes Ostertag

3

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3 March 2020

Didier Lacombe

5

1 reference

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3 March 2020

Tania Attié-Bitach

25

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3 March 2020

Annick Toutain

50

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3 March 2020

Elodie Sanchez

53

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3 March 2020

Corinne Collet

56

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3 March 2020

10

Catheline Vilain

1 reference

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3 March 2020

48

Hanitra Randrianaivo

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3 March 2020

4

Sandrine Marlin

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3 March 2020

31

Elise Schaefer

1 reference

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3 March 2020

29

Hélène Dollfus

1 reference

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3 March 2020

32

Patrick Edery

1 reference

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3 March 2020

Marie-Line Jacquemont

14

object named as

Marie-Line Jacquemont

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3 March 2020

51

Alain Verloes

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3 March 2020

author name string

Dominique Martin-Coignard

6

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3 March 2020

Christine Coubes

7

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3 March 2020

Albert David

8

1 reference

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3 March 2020

Anne Dieux-Coeslier

11

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3 March 2020

Sylvie Manouvrier

12

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3 March 2020

Bertrand Isidor

13

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3 March 2020

Sophie Julia

15

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3 March 2020

Valérie Layet

16

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3 March 2020

Sophie Naudion

17

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3 March 2020

Sylvie Odent

18

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3 March 2020

Laurent Pasquier

19

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3 March 2020

Sybille Pelras

20

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3 March 2020

Nicole Philip

21

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3 March 2020

Geneviève Pierquin

22

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3 March 2020

Fabienne Prieur

23

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3 March 2020

Nisrine Aboussair

24

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3 March 2020

Geneviève Baujat

26

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3 March 2020

Patricia Blanchet

27

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3 March 2020

Catherine Blanchet

28

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3 March 2020

Bérénice Doray

30

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3 March 2020

Fabienne Giuliano

33

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3 March 2020

Alice Goldenberg

34

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3 March 2020

Cyril Goizet

35

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3 March 2020

Agnès Guichet

36

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3 March 2020

Christian Herlin

37

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3 March 2020

Laetitia Lambert

38

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3 March 2020

Bruno Leheup

39

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3 March 2020

Jelena Martinovic

40

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3 March 2020

Sandra Mercier

41

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3 March 2020

Cyril Mignot

42

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3 March 2020

Marie-Laure Moutard

43

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3 March 2020

Marie-José Perez

44

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3 March 2020

Lucile Pinson

45

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3 March 2020

Jacques Puechberty

46

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3 March 2020

Marjolaine Willems

47

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3 March 2020

Kateline Szakszon

49

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3 March 2020

Jacqueline Vigneron

52

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3 March 2020

Pierre Sarda

54

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3 March 2020

Jean-Louis Laplanche

55

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3 March 2020

language of work or name

English

0 references

publication date

19 March 2015

1 reference

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3 March 2020

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3 March 2020

volume

18

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3 March 2020

issue

1

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3 March 2020

page(s)

49-56

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https://scigraph.springernature.com/pub.10.1038/gim.2015.29

3 March 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

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/10.1038%2FGIM.2015.29

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Treacher Collins syndrome: perspectives in evaluation and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

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%2FGIM.2015.29

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Treacher Collins syndrome: etiology, pathogenesis and prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.29

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25790162

12 December 2020

inferred from PubMed ID database lookup

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25790162

12 December 2020

inferred from PubMed ID database lookup

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25790162

12 December 2020