About: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

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About: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	vědecký článek publikovaný v roce 1995 (cs) artículu científicu espublizáu en 1995 (ast) 1995 թվականի հունիսին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в червні 1995 (uk) 1995 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) مقالة علمية (نشرت في يونيو 1995) (ar) vedecký článok (publikovaný 1995/06/01) (sk) wetenschappelijk artikel (gepubliceerd op 1995/06/01) (nl) article scientifique publié en 1995 (fr) scientific journal article (en) im Juni 1995 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28609641-EDE8237A-E80C-488B-AD43-B3C3F2CFF98D
publication date	1995-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28609641-5FF9D3C0-15D7-4880-B643-A14FB2320948
language of work or name	English
author name string	wds:Q28609641-099EB3B2-3C81-45DD-BB31-B6714FE17F51 wds:Q28609641-2877EEB0-6393-4661-818C-0E509B172C94 wds:Q28609641-42C9BAA4-C618-4F2E-BA33-7F251C90ECD1 wds:Q28609641-43CD3F5F-9EEA-479B-BC0B-839A971F03CE wds:Q28609641-460002FA-B597-4101-AAF3-1DE5658D8F0F wds:Q28609641-78C34A1A-67F2-4566-BFF6-87C4C2E1F442 wds:Q28609641-8A87747D-73B9-41F0-B9DF-698262435A8B wds:Q28609641-8E8E6964-5984-4217-9F67-54B9B5467B37 wds:Q28609641-9A8D07DC-1344-4F75-AEC1-FE3C2E90C62B wds:Q28609641-B1078AC8-A8CA-4923-80BE-8102E369CFC9
author name string	R. M. Winter A. D. Hockley A. O. Wilkie J. H. Goldin L. J. Pulleyn M. D. Poole M. J. Wake M. Oldridge P. Rutland S. F. Slaney
rdfs:label	Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (en) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (nl) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (ast)
skos:prefLabel	Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (en) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (nl) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (ast)
name	Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (en) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (nl) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (ast)
author	wds:Q28609641-76520B3F-9517-48A8-B561-CFA429D12F40
author	Andrew Oliver Mungo Wilkie
title	wds:Q28609641-8768B73E-4216-46DD-9DB4-19A0D21BCFFC
title	Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome (en)
page(s)	wds:Q28609641-25C32407-A118-4724-9873-9EE67DA77728
page(s)	1077–1082
instance of	wds:Q28609641-AB778639-D1BC-430D-8923-0237484FAE98
instance of	scholarly article
PubMed ID	wds:Q28609641-8A100060-7CBD-4C18-82C3-DD83FE4DAA69
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7655462
PubMed ID	7655462
published in	wds:Q28609641-95395602-FA5C-4EB5-8029-9F8770B4AFD4
published in	Human Molecular Genetics
issue	wds:Q28609641-77CCED02-5782-4EA2-AC75-2BBE07C6FA6E
volume	wds:Q28609641-AD81DB48-0EC9-47ED-AF03-E816C334D784
issue	6
volume	4
DOI	wds:Q28609641-84D07642-F906-4F79-9D13-80F901DCD74E
DOI	http://dx.doi.org/10.1093/HMG/4.6.1077
DOI	10.1093/HMG/4.6.1077
ResearchGate publication ID	wds:Q28609641-3B89C256-AA67-4524-A62D-08B7252869EE
ResearchGate publication ID	15542619
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28609641
is cites work of	A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome The molecular pathology of syndromic craniosynostosis A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain Functions of fibroblast growth factors in vertebrate development A Twist in fate: evolutionary comparison of Twist structure and function FGF signaling in the developing endochondral skeleton Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome Outline structures for the extracellular domains of the fibroblast growth factor receptors Jackson-Weiss syndrome. Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome Kallmann syndrome: fibroblast growth factor signaling insufficiency? Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans Skeletal disorders associated with fibroblast growth factor receptor mutations The Fgfr2 W290R mouse model of Crouzon syndrome Molecular genetics of craniosynostotic syndromes The Fibroblast Growth Factor signaling pathway Periodontal tissue regeneration by signaling molecule(s): what role does basic fibroblast growth factor (FGF-2) have in periodontal therapy? Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development A model for the pharmacological treatment of crouzon syndrome Cranial suture biology FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing Targeting mutant fibroblast growth factor receptors in cancer Receptors for fibroblast growth factors Echotomography of craniosynostosis: review of literature First-trimester prenatal diagnosis of Crouzon syndrome

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