Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome (Q34308670)

1 August 2017

title

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

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Andrew Oliver Mungo Wilkie

1 August 2017

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1 August 2017

Slaney SF

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1 August 2017

Oldridge M

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1 August 2017

Poole MD

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1 August 2017

Ashworth GJ

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1 August 2017

Hockley AD

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1 August 2017

Hayward RD

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1 August 2017

David DJ

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1 August 2017

Pulleyn LJ

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1 August 2017

Rutland P

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1 August 2017

language of work or name

English

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publication date

1 February 1995

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

165-172

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Cytogenetic Survey of Apert Syndrome

1 August 2017

cites work

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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

21 January 2018

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

21 January 2018

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

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Mechanisms of limb patterning.

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Position-dependent expression of two related homeobox genes in developing vertebrate limbs

21 January 2018

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FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb

21 January 2018

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A positive feedback loop coordinates growth and patterning in the vertebrate limb.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

21 January 2018

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Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

21 January 2018

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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

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

21 January 2018

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The immunoglobulin superfamily--domains for cell surface recognition

21 January 2018

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Crystal structure at 2.8 A resolution of a soluble form of the cell adhesion molecule CD2

21 January 2018

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A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

21 January 2018

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A second-generation linkage map of the human genome

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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

21 January 2018

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Birth prevalence study of the Apert syndrome

21 January 2018

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7 January 2021

Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases

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7 January 2021

The central nervous system in the Apert syndrome

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7 January 2021

Visceral anomalies in the Apert syndrome

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7 January 2021

Skeletal abnormalities in the Apert syndrome

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7 January 2021

The apical ectodermal ridge regulates Hox-7 and Hox-8 gene expression in developing chick limb buds

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7 January 2021

FGF-2: apical ectodermal ridge growth signal for chick limb development

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

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

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7 January 2021

Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26

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7 January 2021

BEK, a receptor for multiple members of the fibroblast growth factor (FGF) family, maps to human chromosome 10q25.3----q26

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7 January 2021

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

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7 January 2021

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7 January 2021

A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.

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7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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7 January 2021

The ins and outs of fibroblast growth factors

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7 January 2021

Targeted expression of a dominant-negative FGF receptor mutant in the epidermis of transgenic mice reveals a role of FGF in keratinocyte organization and differentiation

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7 January 2021

Multivalent Ligand-Receptor Binding Interactions in the Fibroblast Growth Factor System Produce a Cooperative Growth Factor and Heparin Mechanism for Receptor Dimerization

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Mapping of Murine Fibroblast Growth Factor Receptors Refines Regions of Homology between Mouse and Human Chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Characterization of the human HOX 7 cDNA and identification of polymorphic markers

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Dinucleotide repeat polymorphisms at the GSR gene

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7 January 2021

A dinucleotide repeat polymorphism at the D4S127 locus

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Clustering of multiallele DNA markers near the Huntington's disease gene

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Protocols for an improved detection of point mutations by SSCP

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

A simple and rapid method of direct sequencing using Dynabeads

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https://api.crossref.org/works/10.1038%2FNG0295-165

7 January 2021

Identifiers

DOI

10.1038/NG0295-165

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Dimensions Publication ID

1 August 2017

1001089899

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