Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
about
Pfeiffer syndromeDiversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisPaternal age and sporadic schizophrenia: evidence for de novo mutationsGenetic Syndromes Associated with CraniosynostosisA Genetic-Pathophysiological Framework for CraniosynostosisExclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromePleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial developmentGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisConstitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimerasActivating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domainAnalysis of phenotypic features and FGFR2 mutations in Apert syndrome.A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.How is the Human Genome Project doing, and what have we learned so far?Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.Paternal factors and schizophrenia risk: de novo mutations and imprintingDe novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndromeCommon mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.The Fibroblast Growth Factor signaling pathwayApparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.FGFs, their receptors, and human limb malformations: clinical and molecular correlations.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.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 splicingDifferential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndromeReceptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinFGF signaling in the developing endochondral skeleton.Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturationA case of Pfeiffer syndromeRecent advances. Medical genetics.Further analysis of the Crouzon mouse: effects of the FGFR2(C342Y) mutation are cranial bone-dependentUnderstanding craniosynostosis as a growth disorderHypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
P2860
Q21093176-7B31A833-BDFD-4778-A2B0-526D90E7B239Q24531477-2081A0C7-7107-43E3-B46C-3431C2C99C7DQ24604993-D1741F3E-6B3E-445F-9132-BB52E1AF7296Q26745874-DB21391D-A9AB-40FA-94A5-EBFDAF1CE5BDQ26784240-7A9E56F5-B258-4F6D-90C1-ED9C1764BA65Q28200657-4E89CCA8-6C70-4D51-B637-A1208AF96DE8Q28294004-788AD8AB-71D9-408C-ADBB-9E3D3EB4851DQ28344714-42769606-B905-4E5D-B249-32E154644409Q28609649-102648E5-D019-4EAE-ACEA-39CF33A11361Q28609659-76CE59D6-1544-4585-905A-07A4F5D3F01CQ30445325-07CEEDC7-8ACE-4D39-BF1C-59723D6251F5Q33677764-E500AB71-CCC3-4E2F-8C94-9CFE0A9F2CDDQ33678874-31138A5D-836D-4EE9-83C5-A05E8A380F70Q33679292-047D66B4-EC2D-4904-B436-FC6623D52E77Q33737848-1707AB57-5B91-46F4-BC85-45149CDDD5CFQ33911968-B2F00E89-E368-4393-9ADA-E03704319923Q33947191-42866653-5FF7-4804-B25C-EA232ECA465EQ34074836-1D5EFA22-6337-49EF-BC0C-DD7C6D742B84Q34177207-BA603DE7-388F-4EE8-BDE5-982D6A683D0CQ34356609-CCB4E9B4-B9FF-4240-96F7-639014D023E8Q34388821-02299F0A-96C2-45E9-A481-E688DA130497Q34390009-48312067-2804-44A8-B81B-7A0D50CA8284Q34417370-DA624BA6-63DE-4FE1-B017-484C2112C573Q34467171-DA4A6542-1251-4861-8C4A-83A16BB5B1B4Q34538016-202229AB-EB81-4F4F-90B2-805815193219Q34926833-41306CED-C35E-4D86-9CAD-60093E86160DQ35238921-874403C0-7211-4E0F-B865-B6B55C3E4C79Q35253119-F708E229-1A06-4808-B029-66C15A96A484Q35809894-9F177AA5-5409-40F4-AF69-384E9B9E2C75Q35881482-9DB0FDDF-6163-40FD-9DDD-2CD65CF17957Q35881627-C9789CBC-C91F-4236-A631-E504E4CCCA70Q36065321-7E8311A9-CC8F-4A1B-B240-E6BA814CBE22Q36111408-EDDEDF80-586A-4DC1-87CC-D3A9057BBCBBQ36140903-CDD46242-A9E5-4144-AE08-8B2A9ECC9125Q36449121-F1B3C852-FF9E-4874-941C-D48849428C4CQ36598199-198E634B-0237-4850-ABB6-B9F4F7E31A88Q36780832-460BABCE-A85D-4AC1-9AAA-1DF657C48106Q37014071-8DA7E531-E128-414A-B8CC-5BC0B1217AB1Q37622241-FE14E38B-1F7A-4D01-A718-B1FD3A6F94B0Q38156187-539D930C-4DD0-4F3B-B99E-576B318178F8
P2860
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@ast
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@en
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@nl
type
label
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@ast
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@en
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@nl
prefLabel
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@ast
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@en
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@nl
P2093
P3181
P356
P1476
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
@en
P2093
C de Die-Smulders
D H Viskochil
E H Zackai
G J Feldman
J M Stewart
P3181
P356
10.1093/HMG/4.3.323
P407
P577
1995-03-01T00:00:00Z