(Q39425084)

11 September 2017

title

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

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Beare-Stevenson cutis gyrata syndrome

11 September 2017

main subject

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author name string

Przylepa KA

1

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11 September 2017

Paznekas W

2

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11 September 2017

Zhang M

3

1 reference

11 September 2017

Golabi M

4

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11 September 2017

Bias W

5

1 reference

11 September 2017

Bamshad MJ

6

1 reference

11 September 2017

Carey JC

7

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11 September 2017

Hall BD

8

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11 September 2017

Stevenson R

9

1 reference

11 September 2017

Orlow S

10

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11 September 2017

Cohen MM Jr

11

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11 September 2017

Jabs EW

12

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11 September 2017

language of work or name

English

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publication date

1 August 1996

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11 September 2017

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11 September 2017

volume

13

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11 September 2017

issue

4

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11 September 2017

page(s)

492-494

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

11 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

Effective indirect pulp capping (Cp-treatment)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Beare-Stevenson cutis gyrata syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

A severe case of Beare-Stevenson syndrome and associated congenital deformities

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Craniosynostosis update 1987.

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

The function of KGF in morphogenesis of epithelium and reepithelialization of wounds

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Allelic loss of chromosome 18q and prognosis in colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-492

7 January 2021

Identifiers

DOI

10.1038/NG0896-492

1 reference

11 September 2017

1 reference