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 *

95 related articles for article (PubMed ID: 12575031)

  • 21. Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
    Cohen MM
    Am J Med Genet; 2002 Nov; 113(1):1-3. PubMed ID: 12400057
    [No Abstract]   [Full Text] [Related]  

  • 22. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    de Ravel TJ; Taylor IB; Van Oostveldt AJ; Fryns JP; Wilkie AO
    Eur J Hum Genet; 2005 Apr; 13(4):503-5. PubMed ID: 15523492
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Craniosynostosis: genes and mechanisms.
    Wilkie AO
    Hum Mol Genet; 1997; 6(10):1647-56. PubMed ID: 9300656
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.
    Jang JH; Shin KH; Park JG
    Cancer Res; 2001 May; 61(9):3541-3. PubMed ID: 11325814
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.
    Athanasiadis AP; Zafrakas M; Polychronou P; Florentin-Arar L; Papasozomenou P; Norbury G; Bontis JN
    Fetal Diagn Ther; 2008; 24(4):495-8. PubMed ID: 19077386
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Clinical spectrum of fibroblast growth factor receptor mutations.
    Passos-Bueno MR; Wilcox WR; Jabs EW; Sertié AL; Alonso LG; Kitoh H
    Hum Mutat; 1999; 14(2):115-25. PubMed ID: 10425034
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Prenatal sonographic appearance of asymmetric craniosynostosis: a case report.
    Meilstrup JW; Botti JJ; MacKay DR; Johnson DL
    J Ultrasound Med; 1995 Apr; 14(4):307-10. PubMed ID: 7602691
    [No Abstract]   [Full Text] [Related]  

  • 32. 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]  

  • 33. Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
    Kan R; Twigg SR; Berg J; Wang L; Jin F; Wilkie AO
    J Med Genet; 2004 Aug; 41(8):e108. PubMed ID: 15286168
    [No Abstract]   [Full Text] [Related]  

  • 34. 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]  

  • 35. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
    Lajeunie E; El Ghouzzi V; Le Merrer M; Munnich A; Bonaventure J; Renier D
    J Med Genet; 1999 Jan; 36(1):9-13. PubMed ID: 9950359
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.
    Huggins MJ; Mernagh JR; Steele L; Smith JR; Nowaczyk MJ
    Am J Med Genet; 1999 Nov; 87(3):226-9. PubMed ID: 10564875
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Diaphragmatic hernia as the first echographic sign in Apert syndrome.
    Witters I; Devriendt K; Moerman P; van Hole C; Fryns JP
    Prenat Diagn; 2000 May; 20(5):404-6. PubMed ID: 10820409
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Lumpers, splitters, and FGFRs.
    Winter RM; Reardon W
    Am J Med Genet; 1996 Jun; 63(3):501-2. PubMed ID: 8737660
    [No Abstract]   [Full Text] [Related]  

  • 39. 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]  

  • 40. Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication.
    Lajeunie E; Bonaventure J; El Ghouzzi V; Catala M; Renier D
    Am J Med Genet; 2000 Mar; 91(2):159-60. PubMed ID: 10748419
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.