Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 136

1.

The Fgfr2 W290R mouse model of Crouzon syndrome.

Gong SG.

Childs Nerv Syst. 2012 Sep;28(9):1495-503. doi: 10.1007/s00381-012-1792-y. Epub 2012 Aug 8.

PMID:
22872266
[PubMed - indexed for MEDLINE]
2.

The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.

Mai S, Wei K, Flenniken A, Adamson SL, Rossant J, Aubin JE, Gong SG.

Dev Dyn. 2010 Jun;239(6):1888-900. doi: 10.1002/dvdy.22314.

PMID:
20503384
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
23358860
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Characterization of esophageal defects in the Crouzon mouse model.

Dab S, Sokhi R, Lee JC, Sessle BJ, Aubin JE, Gong SG.

Birth Defects Res A Clin Mol Teratol. 2013 Sep;97(9):578-86. doi: 10.1002/bdra.23172. Epub 2013 Sep 2.

PMID:
23997010
[PubMed - indexed for MEDLINE]
5.

A model for the pharmacological treatment of crouzon syndrome.

Perlyn CA, Morriss-Kay G, Darvann T, Tenenbaum M, Ornitz DM.

Neurosurgery. 2006 Jul;59(1):210-5; discussion 210-5.

PMID:
16823318
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.

Hum Mol Genet. 1995 Aug;4(8):1387-90.

PMID:
7581378
[PubMed - indexed for MEDLINE]
7.

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW.

Hum Mol Genet. 1995 Jul;4(7):1229-33.

PMID:
8528214
[PubMed - indexed for MEDLINE]
8.

Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.

Ang BU, Spivak RM, Nah HD, Kirschner RE.

J Craniofac Surg. 2010 Mar;21(2):462-7. doi: 10.1097/SCS.0b013e3181cfe9a0.

PMID:
20489451
[PubMed - indexed for MEDLINE]
9.

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 Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW.

Am J Hum Genet. 1996 Mar;58(3):491-8.

PMID:
8644708
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.

Am J Hum Genet. 2002 Feb;70(2):472-86. Epub 2002 Jan 4.

PMID:
11781872
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutation analysis of Crouzon syndrome in Taiwanese patients.

Chang CP, Wan L, Tsai CH, Lee CC, Tsai FJ.

J Clin Lab Anal. 2006;20(1):23-6.

PMID:
16470531
[PubMed - indexed for MEDLINE]
12.

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

Kress W, Collmann H, B├╝sse M, Halliger-Keller B, Mueller CR.

Cytogenet Cell Genet. 2000;91(1-4):134-7.

PMID:
11173845
[PubMed - indexed for MEDLINE]
13.

Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.

Park J, Park OJ, Yoon WJ, Kim HJ, Choi KY, Cho TJ, Ryoo HM.

J Cell Biochem. 2012 Feb;113(2):457-64. doi: 10.1002/jcb.23368.

PMID:
21928350
[PubMed - indexed for MEDLINE]
14.

Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.

Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E.

J Craniofac Surg. 2001 Nov;12(6):580-5.

PMID:
11711827
[PubMed - indexed for MEDLINE]
15.

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.

Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.

Bone. 2008 Apr;42(4):631-43. doi: 10.1016/j.bone.2007.11.019. Epub 2008 Jan 31.

PMID:
18242159
[PubMed - indexed for MEDLINE]
16.

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al.

Nat Genet. 1995 Feb;9(2):173-6.

PMID:
7719345
[PubMed - indexed for MEDLINE]
17.

The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT.

Perlyn CA, DeLeon VB, Babbs C, Govier D, Burell L, Darvann T, Kreiborg S, Morriss-Kay G.

Cleft Palate Craniofac J. 2006 Nov;43(6):740-8.

PMID:
17105336
[PubMed - indexed for MEDLINE]
18.

Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.

Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S, Liang X, Zhu Y, Yang H, Liu Y.

Mol Vis. 2012;18:1278-82. Epub 2012 May 15.

PMID:
22665975
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

Everett ET, Britto DA, Ward RE, Hartsfield JK Jr.

Cleft Palate Craniofac J. 1999 Nov;36(6):533-41.

PMID:
10574673
[PubMed - indexed for MEDLINE]
20.

A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.

Fujisawa H, Hasegawa M, Kida S, Yamashita J.

J Neurosurg. 2002 Aug;97(2):396-400.

PMID:
12186468
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk