131 related articles for article (PubMed ID: 12000365)
1. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
Wang TJ; Huang CB; Tsai FJ; Wu JY; Lai RB; Hsiao M
Clin Genet; 2002 Mar; 61(3):218-21. PubMed ID: 12000365
[TBL] [Abstract][Full Text] [Related]
2. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
Vargas RA; Maegawa GH; Taucher SC; Leite JC; Sanz P; Cifuentes J; Parra M; Muñoz H; Maranduba CM; Passos-Bueno MR
Am J Med Genet A; 2003 Aug; 121A(1):41-6. PubMed ID: 12900900
[TBL] [Abstract][Full Text] [Related]
3. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Przylepa KA; Paznekas W; Zhang M; Golabi M; Bias W; Bamshad MJ; Carey JC; Hall BD; Stevenson R; Orlow S; Cohen MM; Jabs EW
Nat Genet; 1996 Aug; 13(4):492-4. PubMed ID: 8696350
[TBL] [Abstract][Full Text] [Related]
4. A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.
Akai T; Iizuka H; Kishibe M; Kawakami S; Kobayashi A; Ozawa T
Pediatr Neurosurg; 2002 Aug; 37(2):97-9. PubMed ID: 12145519
[TBL] [Abstract][Full Text] [Related]
5. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Fonseca R; Costa-Lima MA; Cosentino V; Orioli IM
Am J Med Genet A; 2008 Mar; 146A(5):658-60. PubMed ID: 18247426
[TBL] [Abstract][Full Text] [Related]
6. Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
Wang TJ; Hung KS; Chen PK; Chuang WL; Shih TY; Lai BJ; Hsiao M
Acta Neurochir (Wien); 2002 Jul; 144(7):743-5. PubMed ID: 12181710
[No Abstract] [Full Text] [Related]
7. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
Eun SH; Ha KS; Je BK; Lee ES; Choi BM; Lee JH; Eun BL; Yoo KH
J Korean Med Sci; 2007 Apr; 22(2):352-6. PubMed ID: 17449949
[TBL] [Abstract][Full Text] [Related]
8. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
McGaughran J; Sinnott S; Susman R; Buckley MF; Elakis G; Cox T; Roscioli T
Clin Dysmorphol; 2006 Apr; 15(2):89-93. PubMed ID: 16531735
[TBL] [Abstract][Full Text] [Related]
9. 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; 167A(4):852-7. PubMed ID: 25706251
[TBL] [Abstract][Full Text] [Related]
10. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
Wang Y; Zhou X; Oberoi K; Phelps R; Couwenhoven R; Sun M; Rezza A; Holmes G; Percival CJ; Friedenthal J; Krejci P; Richtsmeier JT; Huso DL; Rendl M; Jabs EW
J Clin Invest; 2012 Jun; 122(6):2153-64. PubMed ID: 22585574
[TBL] [Abstract][Full Text] [Related]
11. Beare-Stevenson cutis gyrata syndrome.
Hall BD; Cadle RG; Golabi M; Morris CA; Cohen MM
Am J Med Genet; 1992 Sep; 44(1):82-9. PubMed ID: 1519658
[TBL] [Abstract][Full Text] [Related]
12. Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family.
Zhang Y; Gorry MC; Post JC; Ehrlich GD
Gene; 1999 Apr; 230(1):69-79. PubMed ID: 10196476
[TBL] [Abstract][Full Text] [Related]
13. Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.
Tao YC; Slavotinek AM; Vargervik K; Oberoi S
Cleft Palate Craniofac J; 2010 May; 47(3):253-8. PubMed ID: 19860525
[TBL] [Abstract][Full Text] [Related]
14. FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.
Krepelová A; Baxová A; Calda P; Plavka R; Kapras J
Am J Med Genet; 1998 Apr; 76(4):362-4. PubMed ID: 9545103
[No Abstract] [Full Text] [Related]
15. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Tartaglia M; Di Rocco C; Lajeunie E; Valeri S; Velardi F; Battaglia PA
Hum Genet; 1997 Nov; 101(1):47-50. PubMed ID: 9385368
[TBL] [Abstract][Full Text] [Related]
16. A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
Ron N; Leung S; Carney E; Gerber A; David KL
Am J Case Rep; 2016 Apr; 17():254-8. PubMed ID: 27079505
[TBL] [Abstract][Full Text] [Related]
17. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
Roscioli T; Flanagan S; Mortimore RJ; Kumar P; Weedon D; Masel J; Lewandowski R; Hyland V; Glass IA
Am J Med Genet; 2001 Jul; 101(3):187-94. PubMed ID: 11424131
[TBL] [Abstract][Full Text] [Related]
18. Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
Fonseca RF; Costa-Lima MA; Pereira ET; Castilla EE; Orioli IM
Mol Med Rep; 2008; 1(5):753-5. PubMed ID: 21479481
[TBL] [Abstract][Full Text] [Related]
19. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
Chun K; Siegel-Bartelt J; Chitayat D; Phillips J; Ray PN
Am J Med Genet; 1998 May; 77(3):219-24. PubMed ID: 9605588
[TBL] [Abstract][Full Text] [Related]
20. Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
Barge-Schaapveld DQ; Brooks AS; Lequin MH; van Spaendonk R; Vermeulen RJ; Cobben JM
Pediatr Neurol; 2011 Apr; 44(4):303-7. PubMed ID: 21397175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
