(Q34390009)

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Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

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1 reference

Europe PubMed Central

1 August 2017

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism (English)

1 reference

Europe PubMed Central

1 August 2017

5

object named as

Munnich A

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Europe PubMed Central

1 August 2017

author name string

Bonaventure J

1

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Europe PubMed Central

1 August 2017

Rousseau F

2

1 reference

Europe PubMed Central

1 August 2017

Legeai-Mallet L

3

1 reference

Europe PubMed Central

1 August 2017

Le Merrer M

4

1 reference

Europe PubMed Central

1 August 2017

Maroteaux P

6

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Europe PubMed Central

1 August 2017

publication date

1 May 1996

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Europe PubMed Central

1 August 2017

American Journal of Medical Genetics Part A

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Europe PubMed Central

1 August 2017

63

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Europe PubMed Central

1 August 2017

148-154

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Europe PubMed Central

1 August 2017

1

1 reference

Europe PubMed Central

1 August 2017

Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

The heparin-binding (fibroblast) growth factor family of proteins

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Specificity of receptor tyrosine kinase signaling: transient versus sustained extracellular signal-regulated kinase activation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Genomic organization of the mouse fibroblast growth factor receptor 3 (Fgfr3) gene.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Heparin-induced oligomerization of FGF molecules is responsible for FGF receptor dimerization, activation, and cell proliferation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Bone dysplasia 'families'.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

A common FGFR3 gene mutation in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

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/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

The gene for achondroplasia maps to the telomeric region of chromosome 4p

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C148%3A%3AAID-AJMG26%3E3.0.CO%3B2-N

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N

1 reference

Europe PubMed Central

1 August 2017

release_brku2yxqrrgubhg4j7kfnuetqa

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https://api.fatcat.wiki/v0/release/brku2yxqrrgubhg4j7kfnuetqa

24 November 2022

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mapped directly with Wikidata item

1 reference

Europe PubMed Central

1 August 2017

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