325 related articles for article (PubMed ID: 8696350)
1. 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]
2. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Meyers GA; Orlow SJ; Munro IR; Przylepa KA; Jabs EW
Nat Genet; 1995 Dec; 11(4):462-4. PubMed ID: 7493034
[TBL] [Abstract][Full Text] [Related]
3. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
Passos-Bueno MR; Sertié AL; Richieri-Costa A; Alonso LG; Zatz M; Alonso N; Brunoni D; Ribeiro SF
Am J Med Genet; 1998 Jul; 78(3):237-41. PubMed ID: 9677057
[TBL] [Abstract][Full Text] [Related]
4. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus GA; Gaudenz K; Zackai EH; Clarke LA; Szabo J; Francomano CA; Muenke M
Nat Genet; 1996 Oct; 14(2):174-6. PubMed ID: 8841188
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Jabs EW; Li X; Scott AF; Meyers G; Chen W; Eccles M; Mao JI; Charnas LR; Jackson CE; Jaye M
Nat Genet; 1994 Nov; 8(3):275-9. PubMed ID: 7874170
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; Pulleyn LJ; Rutland P; Reardon W; Malcolm S
Nat Genet; 1994 Nov; 8(3):269-74. PubMed ID: 7874169
[TBL] [Abstract][Full Text] [Related]
14. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
Steinberger D; Reinhartz T; Unsöld R; Müller U
Am J Med Genet; 1996 Dec; 66(1):81-6. PubMed ID: 8957519
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
van Ravenswaaij-Arts CM; van den Ouweland AM; Hoogeboom AJ; Herbergs J; Pals G
Ned Tijdschr Geneeskd; 2002 Jan; 146(2):63-6. PubMed ID: 11820058
[TBL] [Abstract][Full Text] [Related]
18. 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; Feingold M; Moeschler JB; Rawnsley E; Scott AF; Jabs EW
Am J Hum Genet; 1996 Mar; 58(3):491-8. PubMed ID: 8644708
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
