BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 25119967)

  • 21. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.
    Martínez-Frías ML; de Frutos CA; Bermejo E; Nieto MA;
    Am J Med Genet A; 2010 Jan; 152A(1):245-55. PubMed ID: 20034074
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.
    Chaudhry C; G P; Srivastava P; Das R; Kaur J; Panigrahi I; Kaur A
    Lab Med; 2021 Sep; 52(5):499-502. PubMed ID: 33511985
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
    Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
    Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
    Barton C; Sweeney E; Roberts D; McPartland J
    Clin Dysmorphol; 2010 Jul; 19(3):146-149. PubMed ID: 20357663
    [No Abstract]   [Full Text] [Related]  

  • 25. Familial acanthosis nigricans due to K650T FGFR3 mutation.
    Berk DR; Spector EB; Bayliss SJ
    Arch Dermatol; 2007 Sep; 143(9):1153-6. PubMed ID: 17875876
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
    Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
    Am J Med Genet; 1996 May; 63(1):148-54. PubMed ID: 8723101
    [TBL] [Abstract][Full Text] [Related]  

  • 27. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
    Hatzaki A; Sifakis S; Apostolopoulou D; Bouzarelou D; Konstantinidou A; Kappou D; Sideris A; Tzortzis E; Athanassiadis A; Florentin L; Theodoropoulos P; Makatsoris C; Karadimas C; Velissariou V
    Am J Med Genet A; 2011 Oct; 155A(10):2426-35. PubMed ID: 21910223
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
    Ajmal M; Mir A; Shoaib M; Malik SA; Nasir M
    Diagn Pathol; 2017 Jul; 12(1):47. PubMed ID: 28679403
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
    Naski MC; Wang Q; Xu J; Ornitz DM
    Nat Genet; 1996 Jun; 13(2):233-7. PubMed ID: 8640234
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
    Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
    Acta Paediatr Suppl; 1996 Oct; 417():33-8. PubMed ID: 9055906
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.
    Harada D; Yamanaka Y; Ueda K; Nishimura R; Morishima T; Seino Y; Tanaka H
    Bone; 2007 Aug; 41(2):273-81. PubMed ID: 17561467
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
    Pugash D; Lehman AM; Langlois S
    Ultrasound Obstet Gynecol; 2014 Sep; 44(3):365-8. PubMed ID: 24616001
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
    Almeida MR; Campos-Xavier AB; Medeira A; Cordeiro I; Sousa AB; Lima M; Soares G; Rocha M; Saraiva J; Ramos L; Sousa S; Marcelino JP; Correia A; Santos HG
    Clin Genet; 2009 Feb; 75(2):150-6. PubMed ID: 19215249
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.
    Kim HY; Ko JM
    Ann Pediatr Endocrinol Metab; 2022 Jun; 27(2):90-97. PubMed ID: 35793999
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
    Cohen MM
    Int J Oral Maxillofac Surg; 1998 Dec; 27(6):451-5. PubMed ID: 9869286
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with
    Riba FRG; Gomes MES; Rabelo NC; Zuma MCC; Llerena JC; Mencalha AL; Gonzalez S
    Genet Test Mol Biomarkers; 2021 Oct; 25(10):674-682. PubMed ID: 34672771
    [No Abstract]   [Full Text] [Related]  

  • 38. [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]  

  • 39. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB; Ekmekci CG; Karaarslan E; Gunoz H; Alanay Y
    Eur J Med Genet; 2020 Feb; 63(2):103659. PubMed ID: 31048079
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
    Lemyre E; Azouz EM; Teebi AS; Glanc P; Chen MF
    Can Assoc Radiol J; 1999 Jun; 50(3):185-97. PubMed ID: 10405653
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.