BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 21253318)

  • 1. A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.
    Noe EJ; Yoo HW; Kim KN; Lee SY
    Korean J Pediatr; 2010 Dec; 53(12):1022-5. PubMed ID: 21253318
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
    Lindy AS; Basehore MJ; Munisha M; Williams AL; Friez MJ; Writzl K; Willems P; Dougan ST
    Am J Med Genet A; 2016 Jun; 170(6):1573-9. PubMed ID: 27028100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
    Yang Y; Liu YN; Li DZ
    Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.
    Liu YN; Li R; Li DZ
    J Matern Fetal Neonatal Med; 2011 Jan; 24(1):186-8. PubMed ID: 20569165
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y; Li DZ
    Fetal Diagn Ther; 2009; 26(2):90-2. PubMed ID: 19752524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
    Sahin S; Ograg H; Aslan EA; Akcan AB; Turkmen MK; Moosa S; Elcioglu NH
    Genet Couns; 2016; 27(4):513-517. PubMed ID: 30226972
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
    Itoh K; Pooh R; Kanemura Y; Yamasaki M; Fushiki S
    Neuropathology; 2013 Dec; 33(6):663-6. PubMed ID: 23551494
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Thanatophoric Dysplasia: A Case Report.
    Sharma M; Jyoti ; Jain R; Devendra
    J Clin Diagn Res; 2015 Nov; 9(11):QD01-3. PubMed ID: 26675119
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.