(Q41620072)

5 October 2017

1 reference

title

Molecular genetics of craniosynostotic syndromes (English)

1 reference

5 October 2017

1 reference

U Müller

1

1 reference

PubMed ID

9342602

5 October 2017

D Steinberger

series ordinal

2

1 reference

PubMed ID

9342602

5 October 2017

S Kunze

series ordinal

3

1 reference

5 October 2017

1 September 1997

1 reference

Graefe's Archive for Clinical and Experimental Ophthalmology

5 October 2017

1 reference

5 October 2017

235

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5 October 2017

9

1 reference

5 October 2017

545-550

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00947081

5 October 2017

0 references

cites work

The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00947081

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

21 January 2018

1 reference

12 December 2020

Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull

1 reference

12 December 2020

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

1 reference

12 December 2020

Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene

1 reference

12 December 2020

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.

1 reference

12 December 2020

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome

1 reference

12 December 2020

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans

1 reference

12 December 2020

Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras

1 reference

12 December 2020

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation

1 reference

12 December 2020

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome

1 reference

12 December 2020

A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene

1 reference

12 December 2020

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

12 December 2020

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

1 reference

12 December 2020

Complexity of FGF receptors: genetic basis for structural diversity and functional specificity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of a gene locus involved in craniosynostosis to chromosome 5qter

1 reference

12 December 2020

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

1 reference

12 December 2020

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

1 reference

12 December 2020

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

1 reference

12 December 2020

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

1 reference

12 December 2020

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

1 reference

12 December 2020

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

1 reference

12 December 2020

FGFR2 mutations in Pfeiffer syndrome

1 reference

12 December 2020

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly

1 reference

12 December 2020

Newly recognized autosomal dominant disorder with craniosynostosis

1 reference

12 December 2020

Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00947081

1 reference

5 October 2017

1 reference

PubMed ID

9342602