(Q46898196)

English

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

scientific article published in March 2006

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scholarly article

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. (English)

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Vincent El Ghouzzi

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

author name string

Elisabeth Lajeunie

1

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Solange Heuertz

2

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Jelena Martinovic

4

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Dominique Renier

5

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Martine Le Merrer

6

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

Jacky Bonaventure

7

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

publication date

1 March 2006

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

European Journal of Human Genetics

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

14

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Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

289-298

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201558

0 references

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

FGFR2 mutations in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Clinical variability in patients with Apert's syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

FGFs, their receptors, and human limb malformations: clinical and molecular correlations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Prenatal diagnosis of Pfeiffer syndrome type II

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

RTK mutations and human syndromeswhen good receptors turn bad.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

An intronic splicing silencer causes skipping of the IIIb exon of fibroblast growth factor receptor 2 through involvement of polypyrimidine tract binding protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

21 January 2018

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

7 January 2021

based on heuristic

inferred from DOI database lookup

Sacral appendage associated with a mutation in FGFR2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

7 January 2021

based on heuristic

inferred from DOI database lookup

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201558

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201558

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

release_wjaulbuumjdbzossr7nesbe6qy

1 reference

https://api.fatcat.wiki/v0/release/wjaulbuumjdbzossr7nesbe6qy

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16418739

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