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Items: 1 to 20 of 39

1.

Genetic advances in craniosynostosis.

Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA.

Am J Med Genet A. 2017 May;173(5):1406-1429. doi: 10.1002/ajmg.a.38159. Epub 2017 Feb 4. Review.

PMID:
28160402
2.

Genetic Syndromes Associated with Craniosynostosis.

Ko JM.

J Korean Neurosurg Soc. 2016 May;59(3):187-91. doi: 10.3340/jkns.2016.59.3.187. Epub 2016 May 10. Review.

3.

Understanding craniosynostosis as a growth disorder.

Flaherty K, Singh N, Richtsmeier JT.

Wiley Interdiscip Rev Dev Biol. 2016 Jul;5(4):429-59. doi: 10.1002/wdev.227. Epub 2016 Mar 22. Review.

PMID:
27002187
4.

Articular cartilage tissue engineering: the role of signaling molecules.

Kwon H, Paschos NK, Hu JC, Athanasiou K.

Cell Mol Life Sci. 2016 Mar;73(6):1173-94. doi: 10.1007/s00018-015-2115-8. Epub 2016 Jan 25. Review.

5.

A Genetic-Pathophysiological Framework for Craniosynostosis.

Twigg SR, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):359-77. doi: 10.1016/j.ajhg.2015.07.006. Review.

6.

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM, Kernohan KD, Boycott KM, Sawyer SL.

Hum Mol Genet. 2015 Oct 15;24(R1):R60-6. doi: 10.1093/hmg/ddv254. Epub 2015 Jul 7. Review.

7.

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW.

Curr Genet Med Rep. 2014 Sep 1;2(3):135-145.

8.

The Fibroblast Growth Factor signaling pathway.

Ornitz DM, Itoh N.

Wiley Interdiscip Rev Dev Biol. 2015 May-Jun;4(3):215-66. doi: 10.1002/wdev.176. Epub 2015 Mar 13. Review.

9.

FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.

Karolak MR, Yang X, Elefteriou F.

Hum Mol Genet. 2015 May 1;24(9):2552-64. doi: 10.1093/hmg/ddv019. Epub 2015 Jan 23.

10.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO.

BMC Med Genet. 2014 Aug 31;15:95. doi: 10.1186/s12881-014-0095-4.

11.
12.

Further analysis of the Crouzon mouse: effects of the FGFR2(C342Y) mutation are cranial bone-dependent.

Liu J, Nam HK, Wang E, Hatch NE.

Calcif Tissue Int. 2013 May;92(5):451-66. doi: 10.1007/s00223-013-9701-2. Epub 2013 Jan 29.

13.

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Agochukwu NB, Solomon BD, Muenke M.

Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8. Review.

14.

A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.

Calvert JA, Dedos SG, Hawker K, Fleming M, Lewis MA, Steel KP.

Mamm Genome. 2011 Jun;22(5-6):290-305. doi: 10.1007/s00335-011-9324-8. Epub 2011 Apr 10.

15.

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.

Lee MY, Jeon GW, Jung JM, Sin JB.

Korean J Pediatr. 2010 Jul;53(7):774-7. doi: 10.3345/kjp.2010.53.7.774. Epub 2010 Jul 31.

16.

Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.

Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I.

Mol Cell Biol. 2007 Oct;27(19):6903-12. Epub 2007 Aug 6.

17.
18.

Pfeiffer syndrome.

Vogels A, Fryns JP.

Orphanet J Rare Dis. 2006 Jun 1;1:19. Review.

19.

A case of Pfeiffer syndrome.

Park MS, Yoo JE, Chung J, Yoon SH.

J Korean Med Sci. 2006 Apr;21(2):374-8. Review.

20.

FGF signaling in the developing endochondral skeleton.

Ornitz DM.

Cytokine Growth Factor Rev. 2005 Apr;16(2):205-13. Epub 2005 Apr 1. Review.

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