127 related articles for article (PubMed ID: 19610084)
1. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Slavotinek A; Crawford H; Golabi M; Tao C; Perry H; Oberoi S; Vargervik K; Friez M
Am J Med Genet A; 2009 Aug; 149A(8):1814-7. PubMed ID: 19610084
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJ; Lamandé SR
J Med Genet; 2005 Aug; 42(8):656-62. PubMed ID: 16061565
[No Abstract] [Full Text] [Related]
13. Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
Bochukova EG; Roscioli T; Hedges DJ; Taylor IB; Johnson D; David DJ; Deininger PL; Wilkie AO
Hum Mutat; 2009 Feb; 30(2):204-11. PubMed ID: 18726952
[TBL] [Abstract][Full Text] [Related]
14. Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
Chen CP; Lin SP; Liu YP; Chern SR; Chen SW; Lai ST; Wang W
Taiwan J Obstet Gynecol; 2017 Jun; 56(3):412-414. PubMed ID: 28600064
[No Abstract] [Full Text] [Related]
15. Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
Freeman L; Elakis G; Watson G; Mullan GL; Taylor PJ; Anderson P; Ogle R; Buckley MF; Roscioli T
Clin Dysmorphol; 2008 Jul; 17(3):223-224. PubMed ID: 18541976
[No Abstract] [Full Text] [Related]
16. 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]
17. A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
Barry GP; Ny BM; Zackai EH; Grunwald L; Forbes BJ
Ophthalmic Genet; 2010 Dec; 31(4):193-5. PubMed ID: 20809772
[TBL] [Abstract][Full Text] [Related]
18. 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]
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. 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]
[Next] [New Search]
