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Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
title
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
author
Christiane Theda
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
author name string
W J Park
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
N E Maestri
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
G A Meyers
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
J S Fryburg
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
C Dufresne
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
M M Cohen
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
E W Jabs
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
language of work or name
English
0 references
publication date
1 August 1995
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
volume
57
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
page(s)
321-328
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
cites work
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
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stated in
PubMed Central
reference URL
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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
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20 June 2018
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
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PubMed Central
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20 June 2018
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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PubMed Central
reference URL
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20 June 2018
Achondroplasia is defined by recurrent G380R mutations of FGFR3
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PubMed Central
reference URL
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20 June 2018
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
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reference URL
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20 June 2018
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
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PubMed Central
reference URL
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20 June 2018
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801532
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20 June 2018
A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.
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PubMed Central
reference URL
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20 June 2018
Identification of the cystic fibrosis gene: chromosome walking and jumping
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20 June 2018
The central nervous system in the Apert syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801532
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20 June 2018
Apert syndrome. Classification and pathologic anatomy of limb anomalies
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20 June 2018
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors
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20 June 2018
Complexity of FGF receptors: genetic basis for structural diversity and functional specificity
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20 June 2018
Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene
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20 June 2018
Birth prevalence study of the Apert syndrome
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801532
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20 June 2018
Crystal structure at 2.8 A resolution of a soluble form of the cell adhesion molecule CD2
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20 June 2018
Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis
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26 November 2018
Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
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26 November 2018
FGFR2 mutations in Pfeiffer syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801532
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26 November 2018
Germinal mosaicism in Apert syndrome
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PubMed Central
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26 November 2018
Craniofacial syndromes: no such thing as a single gene disease
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PubMed
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1801532
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
PubMed publication ID
7668257
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801532
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7668257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
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