BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

510 related articles for article (PubMed ID: 7670477)

  • 21. [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
    Rousseau F; Bonaventure J; Le Merrer M; Maroteaux P; Munnich A
    Ann Endocrinol (Paris); 1996; 57(3):153. PubMed ID: 8949408
    [No Abstract]   [Full Text] [Related]  

  • 22. FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.
    Yan-Ling G; Ji-Hong N; Guo-Qiang L; Wei W; De-Fen W
    Horm Res; 1998; 49 Suppl 1():57. PubMed ID: 9554479
    [No Abstract]   [Full Text] [Related]  

  • 23. [Updated treatment of achondroplasia].
    Seino Y
    Clin Calcium; 2009 Mar; 19(3):432-6. PubMed ID: 19252254
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Some chondrodysplasias with short limbs: molecular perspectives.
    Cohen MM
    Am J Med Genet; 2002 Oct; 112(3):304-13. PubMed ID: 12357475
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genotype phenotype correlation in achondroplasia and hypochondroplasia.
    Matsui Y; Yasui N; Kimura T; Tsumaki N; Kawabata H; Ochi T
    J Bone Joint Surg Br; 1998 Nov; 80(6):1052-6. PubMed ID: 9853502
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
    Colvin JS; Bohne BA; Harding GW; McEwen DG; Ornitz DM
    Nat Genet; 1996 Apr; 12(4):390-7. PubMed ID: 8630492
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].
    van Ravenswaaij-Arts CM; Losekoot M
    Ned Tijdschr Geneeskd; 2001 Jun; 145(22):1056-9. PubMed ID: 11414167
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Achondroplasia-hypochondroplasia complex in a newborn infant.
    Huggins MJ; Smith JR; Chun K; Ray PN; Shah JK; Whelan DT
    Am J Med Genet; 1999 Jun; 84(5):396-400. PubMed ID: 10360392
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients].
    Ni J; Lu G; Wang W; Chen F; Qin H; Wang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):205-8. PubMed ID: 12048679
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.
    Lanning RW; Brown CA
    Hum Mutat; 1997; 10(6):496-9. PubMed ID: 9401015
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
    Webster MK; Donoghue DJ
    EMBO J; 1996 Feb; 15(3):520-7. PubMed ID: 8599935
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A simple and rapid quantitative method of detection of the common achondroplasia mutation: analysis in mismatch repair deficient cells.
    Grewal RP
    Genetika; 2005 Aug; 41(8):1137-41. PubMed ID: 16161636
    [TBL] [Abstract][Full Text] [Related]  

  • 35. PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.
    Pusch CM; Broghammer M; Nicholson GJ; Nerlich AG; Zink A; Kennerknecht I; Bachmann L; Blin N
    Mol Biol Evol; 2004 Nov; 21(11):2005-11. PubMed ID: 15254256
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotype and phenotype in hypochondroplasia.
    Ramaswami U; Rumsby G; Hindmarsh PC; Brook CG
    J Pediatr; 1998 Jul; 133(1):99-102. PubMed ID: 9672519
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
    Heuertz S; Le Merrer M; Zabel B; Wright M; Legeai-Mallet L; Cormier-Daire V; Gibbs L; Bonaventure J
    Eur J Hum Genet; 2006 Dec; 14(12):1240-7. PubMed ID: 16912704
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
    van Rhijn BW; van Tilborg AA; Lurkin I; Bonaventure J; de Vries A; Thiery JP; van der Kwast TH; Zwarthoff EC; Radvanyi F
    Eur J Hum Genet; 2002 Dec; 10(12):819-24. PubMed ID: 12461689
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].
    Zhang Y; Yu W; Shen M; Fang Q; Fan M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Aug; 17(4):252-5. PubMed ID: 10932008
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously.
    Tsai T; Gombos D; Fulton L; Conway RM; O'Brien JM; Cronin JE; Muthialu A
    Ophthalmic Genet; 2005 Jun; 26(2):107-10. PubMed ID: 16020314
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 26.