Literature DB >> 8956050

Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

D Steinberger1, J B Mulliken, U Müller.   

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Year:  1996        PMID: 8956050     DOI: 10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  8 in total

Review 1.  Molecular genetics of craniosynostotic syndromes.

Authors:  U Müller; D Steinberger; S Kunze
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-09       Impact factor: 3.117

Review 2.  FGF signaling in the developing endochondral skeleton.

Authors:  David M Ornitz
Journal:  Cytokine Growth Factor Rev       Date:  2005-04-01       Impact factor: 7.638

3.  The Fgfr2 W290R mouse model of Crouzon syndrome.

Authors:  S-G Gong
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

4.  A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

Authors:  D Steinberger; H Collmann; B Schmalenberger; U Müller
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

5.  Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

Authors:  Kenneth E White; Jose M Cabral; Siobhan I Davis; Tonya Fishburn; Wayne E Evans; Shoji Ichikawa; Joanna Fields; Xijie Yu; Nick J Shaw; Neil J McLellan; Carole McKeown; David Fitzpatrick; Kai Yu; David M Ornitz; Michael J Econs
Journal:  Am J Hum Genet       Date:  2004-12-28       Impact factor: 11.025

6.  Phosphorylation and lipid raft association of fibroblast growth factor receptor-2 in oligodendrocytes.

Authors:  M R Bryant; C B Marta; F S Kim; R Bansal
Journal:  Glia       Date:  2009-07       Impact factor: 7.452

7.  N-Glycosylation regulates fibroblast growth factor receptor/EGL-15 activity in Caenorhabditis elegans in vivo.

Authors:  Urszula M Polanska; Laurence Duchesne; Janet C Harries; David G Fernig; Tarja K Kinnunen
Journal:  J Biol Chem       Date:  2009-10-02       Impact factor: 5.157

Review 8.  The Fibroblast Growth Factor signaling pathway.

Authors:  David M Ornitz; Nobuyuki Itoh
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2015-03-13       Impact factor: 5.814

  8 in total

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