Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. (Q54969706)

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English	Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

title

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. (English)

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

author

Anne Slavotinek

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1

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Anne Slavotinek

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Europe PubMed Central

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2785435

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14 June 2018

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http://europepmc.org/abstract/PMC/2785435

author name string

Howard Crawford

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2

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

Mahin Golabi

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3

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

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http://europepmc.org/abstract/PMC/2785435

Cathy Tao

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4

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

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http://europepmc.org/abstract/PMC/2785435

Hazel Perry

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5

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Europe PubMed Central

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2785435

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14 June 2018

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http://europepmc.org/abstract/PMC/2785435

Sneha Oberoi

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6

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

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http://europepmc.org/abstract/PMC/2785435

Karin Vargervik

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7

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

Michael Friez

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8

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Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

language of work or name

English

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publication date

1 August 2009

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stated in

Europe PubMed Central

PMC publication ID

2785435

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14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

published in

American Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

volume

149A

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Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

issue

8

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stated in

Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

page(s)

1814-1817

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Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

cites work

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

Beare-Stevenson cutis gyrata syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

16 June 2018

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

retrieved

13 August 2018

Identifiers

DOI

10.1002/AJMG.A.32947

1 reference

stated in

Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

PMC publication ID

2785435

1 reference

stated in

Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

PubMed publication ID

19610084

1 reference

stated in

Europe PubMed Central

PMC publication ID

2785435

retrieved

14 June 2018

reference URL

http://europepmc.org/abstract/PMC/2785435

ResearchGate publication ID

26677814

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