BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 18618990)

  • 1. Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
    Chen CP; Lin SP; Su YN; Chien SC; Tsai FJ; Wang W
    Genet Couns; 2008; 19(2):165-72. PubMed ID: 18618990
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
    Zackai EH; McDonald-McGinn DM; Stolle C; Huff DS
    Clin Dysmorphol; 2003 Jul; 12(3):209. PubMed ID: 14564165
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tracheal anomalies in Pfeiffer syndrome.
    Hockstein NG; McDonald-McGinn D; Zackai E; Bartlett S; Huff DS; Jacobs IN
    Arch Otolaryngol Head Neck Surg; 2004 Nov; 130(11):1298-302. PubMed ID: 15545585
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
    Oliveira NA; Alonso LG; Fanganiello RD; Passos-Bueno MR
    Birth Defects Res A Clin Mol Teratol; 2006 Aug; 76(8):629-33. PubMed ID: 16955501
    [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. 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]  

  • 7. 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]  

  • 8. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
    Gonzales M; Heuertz S; Martinovic J; Delahaye S; Bazin A; Loget P; Pasquier L; Le Merrer M; Bonaventure J
    Clin Genet; 2005 Aug; 68(2):179-81. PubMed ID: 15996217
    [No Abstract]   [Full Text] [Related]  

  • 9. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
    Park J; Park OJ; Yoon WJ; Kim HJ; Choi KY; Cho TJ; Ryoo HM
    J Cell Biochem; 2012 Feb; 113(2):457-64. PubMed ID: 21928350
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
    Noble AR; Cunningham ML; Lam A; Wenger TL; Sie KC; Perkins JA; Dahl JP
    Laryngoscope; 2022 Jan; 132(1):215-221. PubMed ID: 34133757
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.
    Flöttmann R; Knaus A; Zemojtel T; Robinson PN; Mundlos S; Horn D; Spielmann M
    Eur J Med Genet; 2015 Aug; 58(8):376-80. PubMed ID: 26096994
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pfeiffer syndrome.
    Vogels A; Fryns JP
    Orphanet J Rare Dis; 2006 Jun; 1():19. PubMed ID: 16740155
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V; Srivuthana S; Ittiwut C; Theamboonlers A; Mahatumarat C; Poovorawan Y
    Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):425-8. PubMed ID: 11556600
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cleft palate in Pfeiffer syndrome.
    Stoler JM; Rosen H; Desai U; Mulliken JB; Meara JG; Rogers GF
    J Craniofac Surg; 2009 Sep; 20(5):1375-7. PubMed ID: 19816260
    [TBL] [Abstract][Full Text] [Related]  

  • 15. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C; Mahatumarat C; Rojvachiranonda N; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V
    J Craniofac Surg; 2013 Jan; 24(1):150-2. PubMed ID: 23348274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
    Piccione M; Antona V; Niceta M; Fabiano C; Martines M; Bianchi A; Corsello G
    Eur J Pediatr; 2009 Sep; 168(9):1135-9. PubMed ID: 19066959
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
    Wenger TL; Hopper RA; Rosen A; Tully HM; Cunningham ML; Lee A
    Genet Med; 2019 Feb; 21(2):471-476. PubMed ID: 29915381
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pfeiffer syndrome type 2: further delineation and review of the literature.
    Plomp AS; Hamel BC; Cobben JM; Verloes A; Offermans JP; Lajeunie E; Fryns JP; de Die-Smulders CE
    Am J Med Genet; 1998 Jan; 75(3):245-51. PubMed ID: 9475590
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.