Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. (Q53773855)

http://europepmc.org/abstract/MED/27683237

19 May 2018

title

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. (English)

1 reference

http://europepmc.org/abstract/MED/27683237

19 May 2018

author

Tsutomu Ogata

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27683237%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Akira Ohishi

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27683237%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Gen Nishimura

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27683237%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Fumiko Kato

3

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1 June 2020

Hiroyuki Ono

4

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1 June 2020

Kaori Maruwaka

5

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1 June 2020

Mako Ago

6

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1 June 2020

Hiroshi Suzumura

7

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1 June 2020

Etsuko Hirose

8

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1 June 2020

Yuki Uchida

9

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1 June 2020

Maki Fukami

10

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1 June 2020

language of work or name

English

0 references

publication date

28 September 2016

1 reference

http://europepmc.org/abstract/MED/27683237

19 May 2018

published in

American Journal of Medical Genetics

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1 June 2020

volume

173

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1 June 2020

issue

1

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1 June 2020

page(s)

157-162

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Nosology and classification of genetic skeletal disorders: 2015 revision.

1 June 2020

cites work

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Significant phenotypic variability of Muenke syndrome in identical twins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Understanding craniosynostosis as a growth disorder

21 January 2018

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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

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/10.1002%2FAJMG.A.37992

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Spectrum of Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37992

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27683237%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference