Literature DB >> 7773284

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.

X Li, W J Park, R E Pyeritz, E W Jabs.   

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Year:  1995        PMID： 7773284     DOI： 10.1038/ng0395-232

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  18 in total

1.  Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Authors:  Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

Review 2.  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

3.  Elevated expression of activated forms of Neu/ErbB-2 and ErbB-3 are involved in the induction of mammary tumors in transgenic mice: implications for human breast cancer.

Authors:  P M Siegel; E D Ryan; R D Cardiff; W J Muller
Journal:  EMBO J       Date:  1999-04-15       Impact factor: 11.598

4.  A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Authors:  D Wilkes; P Rutland; L J Pulleyn; W Reardon; C Moss; J P Ellis; R M Winter; S Malcolm
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 5.  Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

Authors:  W J Park; G A Bellus; E W Jabs
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

6.  Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Authors:  R L Glaser; W Jiang; S A Boyadjiev; A K Tran; A A Zachary; L Van Maldergem; D Johnson; S Walsh; M Oldridge; S A Wall; A O Wilkie; E W Jabs
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

7.  Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

Authors:  J Vockley; P K Rogan; B D Anderson; J Willard; R S Seelan; D I Smith; W Liu
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

8.  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.

Authors:  G A Meyers; D Day; R Goldberg; D L Daentl; K A Przylepa; L J Abrams; J M Graham; M Feingold; J B Moeschler; E Rawnsley; A F Scott; E W Jabs
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 9.  The functional relevance of somatic synonymous mutations in melanoma and other cancers.

Authors:  Valer Gotea; Jared J Gartner; Nouar Qutob; Laura Elnitski; Yardena Samuels
Journal:  Pigment Cell Melanoma Res       Date:  2015-11       Impact factor: 4.693

10.  A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

Authors:  Y Z Du; C Dickerson; A S Aylsworth; C E Schwartz
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
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