(Q45137467)

9 December 2017

title

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome (English)

1 reference

Andrew Oliver Mungo Wilkie

9 December 2017

author

series ordinal

5

1 reference

9 December 2017

1

Thomy J L de Ravel

1 reference

9 December 2017

Indira B Taylor

2

1 reference

9 December 2017

Alex J T Van Oostveldt

series ordinal

3

1 reference

9 December 2017

Jean-Pierre Fryns

series ordinal

4

1 reference

9 December 2017

publication date

1 April 2005

1 reference

European Journal of Human Genetics

9 December 2017

published in

1 reference

9 December 2017

volume

13

1 reference

9 December 2017

issue

4

1 reference

9 December 2017

page(s)

503-505

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201325

9 December 2017

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Of worms and men: an evolutionary perspective on the fibroblast growth factor (FGF) and FGF receptor families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201325

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201325

1 reference

Dimensions Publication ID

9 December 2017

1049898114

0 references

1 reference