(Q33947191)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10861678%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

review article

1 reference

title

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature (English)

1 reference

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7 November 2019

6

1 reference

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7 November 2019

author name string

T Roscioli

1

1 reference

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7 November 2019

S Flanagan

2

1 reference

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7 November 2019

P Kumar

3

1 reference

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7 November 2019

J Masel

4

1 reference

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7 November 2019

M Gattas

5

1 reference

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7 November 2019

I A Glass

7

1 reference

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7 November 2019

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10861678%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

7 November 2019

published in

1 reference

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7 November 2019

volume

93

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7 November 2019

page(s)

22-28

1 reference

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7 November 2019

issue

1

1 reference

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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

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/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Comparison of the intracellular signaling responses by three chimeric fibroblast growth factor receptors in PC12 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

Familial acrocephalosyndactyly (Pfeiffer syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000703%2993%3A1%3C22%3A%3AAID-AJMG5%3E3.0.CO%3B2-U

10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10861678%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference