Literature DB >> 7719333

FGFR2 mutations in Pfeiffer syndrome.

E Lajeunie, H W Ma, J Bonaventure, A Munnich, M Le Merrer, D Renier.   

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Year:  1995        PMID： 7719333     DOI： 10.1038/ng0295-108

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


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  38 in total

1.  Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Authors:  A Golla; P Lichmer; S von Gernet; A Winterpacht; J Fairley; J Murken; S Schuffenhauer
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

Review 2.  Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

Authors:  A O Wilkie
Journal:  Indian J Pediatr       Date:  1996 May-Jun       Impact factor: 1.967

3.  Locus heterogeneity in progressive familial intrahepatic cholestasis.

Authors:  S S Strautnieks; A F Kagalwalla; M S Tanner; R M Gardiner; R J Thompson
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

Review 4.  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

5.  Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Authors:  S F Slaney; M Oldridge; J A Hurst; G M Moriss-Kay; C M Hall; M D Poole; A O Wilkie
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

6.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

7.  How is the Human Genome Project doing, and what have we learned so far?

Authors:  M S Guyer; F S Collins
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205

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

9.  De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Authors:  M Oldridge; E H Zackai; D M McDonald-McGinn; S Iseki; G M Morriss-Kay; S R Twigg; D Johnson; S A Wall; W Jiang; C Theda; E W Jabs; A O Wilkie
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 10.  Neurogenetic diseases: molecular diagnosis and therapeutic approaches.

Authors:  U Muller; M B Graeber
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599
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