These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 24411056)

  • 21. 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]  

  • 22. 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]  

  • 23. A new case of Pfeiffer syndrome with mutation in FGFR2.
    Addor MC; Gudinchet F; Laurini RN; Pescia G; Schorderet DF
    Genet Couns; 1997; 8(4):303-9. PubMed ID: 9457499
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
    Machado RA; Ferreira SB; Martins L; Ribeiro MM; Martelli DRB; Coletta RD; Aguiar MJB; Martelli-Júnior H
    Am J Med Genet A; 2017 Oct; 173(10):2838-2843. PubMed ID: 28815901
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.
    Cerrato FE; Nuzzi LC; Theman TA; Taghinia A; Upton J; Labow BI
    Plast Reconstr Surg; 2014 May; 133(5):654e-661e. PubMed ID: 24776567
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M; Suzuki H; Eto Y
    J Craniofac Genet Dev Biol; 1999; 19(4):183-8. PubMed ID: 10731087
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome.
    Au PK; Kwok YK; Leung KY; Tang LY; Tang MH; Lau ET
    Prenat Diagn; 2011 Feb; 31(2):218-20. PubMed ID: 21268044
    [No Abstract]   [Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Apert syndrome with omphalocele: a case report.
    Ercoli G; Bidondo MP; Senra BC; Groisman B
    Birth Defects Res A Clin Mol Teratol; 2014 Sep; 100(9):726-9. PubMed ID: 25045033
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
    Stevens CA; Roeder ER
    Clin Dysmorphol; 2006 Jul; 15(3):187-188. PubMed ID: 16760743
    [No Abstract]   [Full Text] [Related]  

  • 34. A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.
    Baynam G; Smith N; Goldblatt J
    Am J Med Genet A; 2008 Sep; 146A(17):2301-3. PubMed ID: 18671283
    [No Abstract]   [Full Text] [Related]  

  • 35. Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
    Rai R; Iwanaga J; Dupont G; Oskouian RJ; Loukas M; Oakes WJ; Tubbs RS
    Childs Nerv Syst; 2019 Sep; 35(9):1451-1455. PubMed ID: 31222448
    [TBL] [Abstract][Full Text] [Related]  

  • 36. FGFR mutation in Pfeiffer syndrome.
    Wiwanitkit V
    J Craniofac Surg; 2013 Jul; 24(4):1503. PubMed ID: 23851850
    [No Abstract]   [Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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]  

  • 40. Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome.
    Bulfamante G; Gana S; Avagliano L; Fabietti I; Gentilin B; Lalatta F
    Prenat Diagn; 2011 Sep; 31(9):910-1. PubMed ID: 21706505
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.