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 *

154 related articles for article (PubMed ID: 9215781)

  • 21. 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]  

  • 22. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA
    Am J Med Genet A; 2003 Jul; 120A(2):157-68. PubMed ID: 12833394
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
    Katsumata N; Kuno T; Miyazaki S; Mikami S; Nagashima-Miyokawa A; Nimura A; Horikawa R; Tanaka T
    Endocr J; 1998 Apr; 45 Suppl():S171-4. PubMed ID: 9790257
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
    De Biasio P; Prefumo F; Baffico M; Baldi M; Priolo M; Lerone M; Tomà P; Venturini PL
    Prenat Diagn; 2000 Oct; 20(10):835-7. PubMed ID: 11038465
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
    Tavormina PL; Bellus GA; Webster MK; Bamshad MJ; Fraley AE; McIntosh I; Szabo J; Jiang W; Jabs EW; Wilcox WR; Wasmuth JJ; Donoghue DJ; Thompson LM; Francomano CA
    Am J Hum Genet; 1999 Mar; 64(3):722-31. PubMed ID: 10053006
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Thanatophoric dysplasia].
    Tonoki H
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):294-5. PubMed ID: 11057234
    [No Abstract]   [Full Text] [Related]  

  • 29. [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
    Kruczek A; Kruczek P; Mitkowska Z; Pietrzyk JJ
    Przegl Lek; 2002; 59 Suppl 1():137-9. PubMed ID: 12108063
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
    Okajima K; Asai K; Niwa T; Ohki S; Sobajima H; Tyson J; Malcolm S; Wada Y
    Cleft Palate Craniofac J; 2002 Mar; 39(2):246-8. PubMed ID: 11879084
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
    Tsai FJ; Tsai LP; Lin SP; Tsai CH; Peng CT; Wang TR; Lee CC; Wu JY
    Acta Paediatr Taiwan; 1999; 40(4):262-4. PubMed ID: 10910625
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
    Wattanasirichaigoon D; Charoenpipop D
    J Med Assoc Thai; 2006 Aug; 89(8):1287-92. PubMed ID: 17048442
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.
    Su WC; Kitagawa M; Xue N; Xie B; Garofalo S; Cho J; Deng C; Horton WA; Fu XY
    Nature; 1997 Mar; 386(6622):288-92. PubMed ID: 9069288
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
    d'Avis PY; Robertson SC; Meyer AN; Bardwell WM; Webster MK; Donoghue DJ
    Cell Growth Differ; 1998 Jan; 9(1):71-8. PubMed ID: 9438390
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
    Lievens PM; Liboi E
    J Biol Chem; 2003 May; 278(19):17344-9. PubMed ID: 12624096
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.
    Cormier S; Delezoide AL; Benoist-Lasselin C; Legeai-Mallet L; Bonaventure J; Silve C
    Am J Pathol; 2002 Oct; 161(4):1325-35. PubMed ID: 12368206
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
    Nguyen HB; Estacion M; Gargus JJ
    Hum Mol Genet; 1997 May; 6(5):681-8. PubMed ID: 9158142
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L; Pan M; Han J; Yang X; Liao C; Li DZ
    J Obstet Gynaecol; 2015; 35(7):685-7. PubMed ID: 25671245
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
    Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J
    Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.