(Q45345164)

13 December 2017

title

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

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13 December 2017

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13 December 2017

McIntosh I

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13 December 2017

Smith EA

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13 December 2017

Aylsworth AS

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13 December 2017

Kaitila I

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13 December 2017

Horton WA

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13 December 2017

Greenhaw GA

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13 December 2017

Hecht JT

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13 December 2017

Francomano CA

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13 December 2017

language of work or name

English

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publication date

1 July 1995

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13 December 2017

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13 December 2017

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13 December 2017

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13 December 2017

page(s)

357-359

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Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

13 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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%2FNG0795-357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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%2FNG0795-357

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

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%2FNG0795-357

7 January 2021

Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Base-base mismatches. Thermodynamics of double helix formation for dCA3XA3G + dCT3YT3G (X, Y = A,C,G,T).

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-357

7 January 2021

Identifiers

DOI

10.1038/NG0795-357

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Dimensions Publication ID

13 December 2017

1037244826

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1 reference