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Journal Abstract Search

117 related items for PubMed ID: 30811827

  • 1. Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.
    Korakavi N, Prokop JW, Seaver LH.
    Am J Med Genet A; 2019 Apr; 179(4):668-673. PubMed ID: 30811827
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  • 5. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
    Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I.
    Am J Hum Genet; 2011 Jul 15; 89(1):67-81. PubMed ID: 21741611
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  • 10. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
    Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT.
    J Med Genet; 1998 Sep 15; 35(9):763-6. PubMed ID: 9733036
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  • 12. FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
    Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR.
    Hum Mol Genet; 2015 Dec 01; 24(23):6699-710. PubMed ID: 26362256
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  • 14. 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.
    Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW.
    Am J Hum Genet; 1996 Mar 01; 58(3):491-8. PubMed ID: 8644708
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  • 15. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
    Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G.
    Pediatr Neurol; 2014 May 01; 50(5):482-90. PubMed ID: 24656465
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  • 17. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
    Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH.
    Am J Med Genet A; 2015 Apr 01; 167A(4):852-7. PubMed ID: 25706251
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  • 18. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb 01; 99(2):251-5. PubMed ID: 9048930
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