190 related articles for article (PubMed ID: 17251833)
1. Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
Khong JJ; Anderson PJ; Hammerton M; Roscioli T; Selva D; David DJ
J Craniofac Surg; 2007 Jan; 18(1):39-42. PubMed ID: 17251833
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18242159
[TBL] [Abstract][Full Text] [Related]
3. Re: differential effects of FGFR2 mutation in ophthalmologic findings in Apert syndrome.
Kwan MD; Wan DC; Lorenz HP; Longaker MT
J Craniofac Surg; 2007 Mar; 18(2):459-60. PubMed ID: 17414305
[No Abstract] [Full Text] [Related]
4. Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
Jadico SK; Young DA; Huebner A; Edmond JC; Pollock AN; McDonald-McGinn DM; Li YJ; Zackai EH; Young TL
J AAPOS; 2006 Dec; 10(6):521-7. PubMed ID: 17189145
[TBL] [Abstract][Full Text] [Related]
5. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie E; Heuertz S; El Ghouzzi V; Martinovic J; Renier D; Le Merrer M; Bonaventure J
Eur J Hum Genet; 2006 Mar; 14(3):289-98. PubMed ID: 16418739
[TBL] [Abstract][Full Text] [Related]
6. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie AO; Slaney SF; Oldridge M; Poole MD; Ashworth GJ; Hockley AD; Hayward RD; David DJ; Pulleyn LJ; Rutland P
Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
[TBL] [Abstract][Full Text] [Related]
7. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
Britto JA; Moore RL; Evans RD; Hayward RD; Jones BM
J Neurosurg; 2001 Oct; 95(4):660-73. PubMed ID: 11596961
[TBL] [Abstract][Full Text] [Related]
8. S252W mutation in Indian patients of Apert syndrome.
Girisha KM; Phadke SR; Khan F; Agrawal S
Indian Pediatr; 2006 Aug; 43(8):733-5. PubMed ID: 16951439
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report.
Brajadenta GS; Sari AIP; Nauphar D; Pratamawati TM; Thoreau V
J Med Case Rep; 2019 Aug; 13(1):244. PubMed ID: 31387623
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
Mantilla-Capacho JM; Arnaud L; Díaz-Rodriguez M; Barros-Núñez P
Genet Couns; 2005; 16(4):403-6. PubMed ID: 16440883
[TBL] [Abstract][Full Text] [Related]
12. p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
Mundhofir FE; Sistermans EA; Faradz SM; Hamel BC
Singapore Med J; 2013 Mar; 54(3):e72-5. PubMed ID: 23546041
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Ibarra-Arce A; Ortiz de Zárate-Alarcón G; Flores-Peña LG; Martínez-Hernández F; Romero-Valdovinos M; Olivo-Díaz A
Genet Mol Res; 2015 Mar; 14(1):2341-6. PubMed ID: 25867380
[TBL] [Abstract][Full Text] [Related]
14. Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.
Khong JJ; Anderson P; Gray TL; Hammerton M; Selva D; David D
Ophthalmology; 2006 Feb; 113(2):347-52. PubMed ID: 16458095
[TBL] [Abstract][Full Text] [Related]
15. Ovarian dysgerminoma and Apert syndrome.
Rouzier C; Soler C; Hofman P; Brennetot C; Bieth E; Pedeutour F
Pediatr Blood Cancer; 2008 Mar; 50(3):696-8. PubMed ID: 17243131
[TBL] [Abstract][Full Text] [Related]
16. Monozygotic twins with Apert syndrome.
Breugem CC; Fitzpatrick DF; Verchere C
Cleft Palate Craniofac J; 2008 Jan; 45(1):101-4. PubMed ID: 18215098
[TBL] [Abstract][Full Text] [Related]
17. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
Slaney SF; Oldridge M; Hurst JA; Moriss-Kay GM; Hall CM; Poole MD; Wilkie AO
Am J Hum Genet; 1996 May; 58(5):923-32. PubMed ID: 8651276
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnosis of Apert syndrome in Chinese patients.
Tsai FJ; Tsai CH; Peng CT; Lin SP; Hwu WL; Wang TR; Lee CC; Wu JY
Acta Paediatr Taiwan; 1999; 40(1):31-3. PubMed ID: 10910582
[TBL] [Abstract][Full Text] [Related]
19. Ophthalmic findings in apert syndrome prior to craniofacial surgery.
Khong JJ; Anderson P; Gray TL; Hammerton M; Selva D; David D
Am J Ophthalmol; 2006 Aug; 142(2):328-30. PubMed ID: 16876521
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.
Chen CP; Su YN; Chang TY; Chern SR; Chen CY; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Jun; 52(2):273-7. PubMed ID: 23915865
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
