BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

564 related articles for article (PubMed ID: 7493034)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
    Wilkes D; Rutland P; Pulleyn LJ; Reardon W; Moss C; Ellis JP; Winter RM; Malcolm S
    J Med Genet; 1996 Sep; 33(9):744-8. PubMed ID: 8880573
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
    Vajo Z; Francomano CA; Wilkin DJ
    Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
    Schweitzer DN; Graham JM; Lachman RS; Jabs EW; Okajima K; Przylepa KA; Shanske A; Chen K; Neidich JA; Wilcox WR
    Am J Med Genet; 2001 Jan; 98(1):75-91. PubMed ID: 11426459
    [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. Crouzon with acanthosis nigricans. Further delineation of the syndrome.
    Arnaud-López L; Fragoso R; Mantilla-Capacho J; Barros-Núñez P
    Clin Genet; 2007 Nov; 72(5):405-10. PubMed ID: 17935505
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
    Ishigaki M; Wada C; Toyo-oka Y; Yamabe H; Ohnuki Y; Takada F; Yamazaki Y; Ohtani H
    Rinsho Byori; 1996 May; 44(5):439-43. PubMed ID: 8676563
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM
    Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
    Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA
    Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.
    Nagase T; Nagase M; Hirose S; Ohmori K
    Cleft Palate Craniofac J; 2000 Jan; 37(1):78-82. PubMed ID: 10670894
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
    Gorry MC; Preston RA; White GJ; Zhang Y; Singhal VK; Losken HW; Parker MG; Nwokoro NA; Post JC; Ehrlich GD
    Hum Mol Genet; 1995 Aug; 4(8):1387-90. PubMed ID: 7581378
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
    Sharda S; Panigrahi I; Gupta K; Singhi S; Kumar R
    Pediatr Dermatol; 2010; 27(1):43-7. PubMed ID: 20199409
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
    Van Esch H; Fryns JE
    Genet Couns; 2004; 15(3):375-7. PubMed ID: 15517832
    [No Abstract]   [Full Text] [Related]  

  • 20. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
    Wilkie AO; Slaney SF; Oldridge M; Poole MD; Ashworth GJ; Hockley AD; Hayward RD; David DJ; Pulleyn LJ; Rutland P
    Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.