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 *

259 related articles for article (PubMed ID: 11270184)

  • 1. Thanatophoric dysplasia type I.
    Chang TK; Wang Y; Liu AM; Tung JC
    Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
    Salinas-Torres VM
    Genet Couns; 2015; 26(1):61-5. PubMed ID: 26043509
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
    Tavormina PL; Shiang R; Thompson LM; Zhu YZ; Wilkin DJ; Lachman RS; Wilcox WR; Rimoin DL; Cohn DH; Wasmuth JJ
    Nat Genet; 1995 Mar; 9(3):321-8. PubMed ID: 7773297
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
    Chen CP; Chern SR; Shih JC; Wang W; Yeh LF; Chang TY; Tzen CY
    Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. A case of thanatophoric dysplasia type 2: a novel mutation.
    Gülaşı S; Atıcı A; Çelik Y
    J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
    Chen CP; Chern SR; Chang TY; Lin CJ; Wang W; Tzen CY
    Prenat Diagn; 2002 Aug; 22(8):736-7. PubMed ID: 12210587
    [No Abstract]   [Full Text] [Related]  

  • 10. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
    Nerlich AG; Freisinger P; Bonaventure J
    Am J Med Genet; 1996 May; 63(1):155-60. PubMed ID: 8723102
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
    Chen CP; Chang TY; Lin MH; Chern SR; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
    Chen CP; Chern SR; Wang W; Wang TY
    Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M; Park SH
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
    Kitoh H; Brodie SG; Kupke KG; Lachman RS; Wilcox WR
    Hum Mutat; 1998; 12(5):362-3. PubMed ID: 10671061
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Thanatoforic dysplasia--case report].
    Pietryga M; Iciek R; Brazert M; Wender-Ozegowska E; Brazert J
    Ginekol Pol; 2010 Jan; 81(1):55-60. PubMed ID: 20232701
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
    Tsai FJ; Tsai CH; Chang JG; Wu JY
    Am J Med Genet; 1999 Sep; 86(3):300-1. PubMed ID: 10482885
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.