137 related articles for article (PubMed ID: 23808569)
1. Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.
Collet C; Alessandri JL; Arnaud E; Balu M; Daire VC; Di Rocco F
Clin Genet; 2014 Jun; 85(6):598-9. PubMed ID: 23808569
[No Abstract] [Full Text] [Related]
2. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.
Ke R; Yang X; Ge M; Cai T; Lei J; Mu X
J Craniofac Surg; 2015 Mar; 26(2):592-4. PubMed ID: 25759927
[TBL] [Abstract][Full Text] [Related]
3. [FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient].
Guo L; Lai YN; Li LX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr; 25(2):218-20. PubMed ID: 18393251
[TBL] [Abstract][Full Text] [Related]
4. A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ; Bae HS; Choi JY; Lee JH; Kim MJ; Kim S; Ryoo HM; Baek SH
J Cell Biochem; 2014 Jan; 115(1):102-10. PubMed ID: 23913723
[TBL] [Abstract][Full Text] [Related]
5. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
de Ravel TJ; Taylor IB; Van Oostveldt AJ; Fryns JP; Wilkie AO
Eur J Hum Genet; 2005 Apr; 13(4):503-5. PubMed ID: 15523492
[TBL] [Abstract][Full Text] [Related]
6. FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.
Apra C; Collet C; Arnaud E; Di Rocco F
Clin Genet; 2016 Jun; 89(6):746-8. PubMed ID: 26841243
[No Abstract] [Full Text] [Related]
7. An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
Fan J; Li Y; Jia R; Fan X
BMC Med Genet; 2018 May; 19(1):91. PubMed ID: 29848297
[TBL] [Abstract][Full Text] [Related]
8. A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.
Locuratolo N; Baffico M; Baldi M; Parisi V; Micacchi F; Angelucci V; Rojas Beccaglia M; Pirro C; Fattapposta F
Arch Ital Biol; 2011 Sep; 149(3):313-7. PubMed ID: 22028092
[No Abstract] [Full Text] [Related]
9. Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
Ke R; Lei J; Ge M; Cai T; Yang J; Wu Y; Mu X
J Craniofac Surg; 2015 Mar; 26(2):557-9. PubMed ID: 25692891
[TBL] [Abstract][Full Text] [Related]
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; 15():95. PubMed ID: 25174698
[TBL] [Abstract][Full Text] [Related]
11. 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
Nat Genet; 1995 Feb; 9(2):173-6. PubMed ID: 7719345
[TBL] [Abstract][Full Text] [Related]
12. FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Y; Gao H; Ai S; Eswarakumar JVP; Zhu Y; Chen C; Li T; Liu B; Jiang H; Liu Y; Li Y; Wu Q; Li H; Liang X; Jin C; Huang X; Lu L
Mol Med Rep; 2017 Nov; 16(5):5841-5846. PubMed ID: 28901406
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].
Huang Y; Mei L; Su W; Yang P; Liang D; Wu L; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):272-5. PubMed ID: 24928000
[TBL] [Abstract][Full Text] [Related]
14. 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; 50(5):482-90. PubMed ID: 24656465
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 16470531
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 22665975
[TBL] [Abstract][Full Text] [Related]
17. The postnatal features of bent bone dysplasia-FGFR2 type.
Scott RH; Meaney C; Jenkins L; Calder A; Hurst JA
Clin Dysmorphol; 2014 Jan; 23(1):8-11. PubMed ID: 24300289
[No Abstract] [Full Text] [Related]
18. 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. PubMed ID: 20503384
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 23997010
[TBL] [Abstract][Full Text] [Related]
20. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
Phupong V; Srichomthong C; Shotelersuk V
Southeast Asian J Trop Med Public Health; 2004 Dec; 35(4):977-9. PubMed ID: 15916101
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
