(Q38021351)

English

Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

scientific article published on 23 June 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Treacher Collins syndrome

1 reference

based on heuristic

inferred from title

author name string

Jan-Ulrich Schlump

1

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Anja Stein

2

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Ute Hehr

3

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Tanja Karen

4

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Claudia Möller-Hartmann

5

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Nursel H Elcioglu

6

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Nadja Bogdanova

7

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Hartmut Fritz Woike

8

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Dietmar R Lohmann

9

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Ursula Felderhoff-Mueser

10

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Annette Linz

11

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

Dagmar Wieczorek

12

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

23 June 2012

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

171

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Europe PubMed Central

PubMed publication ID

27 August 2017

11

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Europe PubMed Central

PubMed publication ID

27 August 2017

1611-1618

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Europe PubMed Central

PubMed publication ID

27 August 2017

An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

A randomized clinical trial of a new orthodontic appliance to improve upper airway obstruction in infants with Pierre Robin sequence

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

A classification and construction of congenital lateral facial clefts

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Tracher Collins syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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/10.1007%2FS00431-012-1776-7

21 January 2018

Surgical treatment of Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Treatment modalities of infants with upper airway obstruction--review of the literature and presentation of novel orthopedic appliances

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Cochlear implants in children with craniofacial syndromes: assessment and outcomes

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Treatment of upper airway obstruction and feeding problems in Robin-like phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Anatomical classification facial, cranio-facial and latero-facial clefts

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

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/10.1007%2FS00431-012-1776-7

21 January 2018

Treacher Collins syndrome: etiology, pathogenesis and prevention

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1776-7

21 January 2018

Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New grading system for patients with treacher Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mandibulofacial dysostosis; a new hereditary syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treacher Collins syndrome with acute airway obstruction

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term results

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exploring the genetic origins of Treacher Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features, treatment and genetic background of Treacher Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treacher Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hearing loss in the Treacher-Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

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

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Obstructive sleep apnea in Treacher-Collins syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

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

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Auditory rehabilitation path for children

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Treatment of chewing, swallowing and speech defects in handicapped children with Castillo-Morales orofacial regulator therapy: advice for pediatricians and dentists]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Management of obstructive sleep apnea associated with Down syndrome and other craniofacial dysmorphologies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22729243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-012-1776-7

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 August 2017

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