190 related articles for article (PubMed ID: 15221641)
1. Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
Su YN; Lee CN; Chien SC; Hung CC; Chien YH; Chen CA
J Hum Genet; 2004; 49(8):399-403. PubMed ID: 15221641
[TBL] [Abstract][Full Text] [Related]
2. Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Hung CC; Lee CN; Chang CH; Jong YJ; Chen CP; Hsieh WS; Su YN; Lin WL
Clin Biochem; 2008 Feb; 41(3):162-6. PubMed ID: 18199430
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
Alderborn A; Anvret M; Gustavson KH; Hagenäs L; Wadelius C
Acta Paediatr; 1996 Dec; 85(12):1506-7. PubMed ID: 9001669
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Shiang R; Thompson LM; Zhu YZ; Church DM; Fielder TJ; Bocian M; Winokur ST; Wasmuth JJ
Cell; 1994 Jul; 78(2):335-42. PubMed ID: 7913883
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.
Pehlivan S; Ozkinay F; Okutman O; Coğulu O; Ozcan A; Cankaya T; Ulgenalp A
Turk J Pediatr; 2003; 45(2):99-101. PubMed ID: 12921294
[TBL] [Abstract][Full Text] [Related]
10. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.
Ikegawa S; Fukushima Y; Isomura M; Takada F; Nakamura Y
Hum Genet; 1995 Sep; 96(3):309-11. PubMed ID: 7649548
[TBL] [Abstract][Full Text] [Related]
11. Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus GA; Hefferon TW; Ortiz de Luna RI; Hecht JT; Horton WA; Machado M; Kaitila I; McIntosh I; Francomano CA
Am J Hum Genet; 1995 Feb; 56(2):368-73. PubMed ID: 7847369
[TBL] [Abstract][Full Text] [Related]
12. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
Wilkin DJ; Szabo JK; Cameron R; Henderson S; Bellus GA; Mack ML; Kaitila I; Loughlin J; Munnich A; Sykes B; Bonaventure J; Francomano CA
Am J Hum Genet; 1998 Sep; 63(3):711-6. PubMed ID: 9718331
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Nature; 1994 Sep; 371(6494):252-4. PubMed ID: 8078586
[TBL] [Abstract][Full Text] [Related]
14. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
Ezquieta Zubicaray B; Iguacel AO; Varela Junquera JM; Jariego Fente CM; González Gancedo P; Gracia Bouthelier R
Med Clin (Barc); 1999 Mar; 112(8):290-3. PubMed ID: 10207844
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.
Satiroglu-Tufan NL; Tufan AC; Semerci CN; Bagci H
Tohoku J Exp Med; 2006 Feb; 208(2):103-7. PubMed ID: 16434832
[TBL] [Abstract][Full Text] [Related]
17. Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism.
Aviezer D; Golembo M; Yayon A
Curr Drug Targets; 2003 Jul; 4(5):353-65. PubMed ID: 12816345
[TBL] [Abstract][Full Text] [Related]
18. Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Su YN; Lee CN; Hung CC; Chen CA; Cheng WF; Tsao PN; Yu CL; Hsieh FJ
Hum Mutat; 2003 Oct; 22(4):326-36. PubMed ID: 12955718
[TBL] [Abstract][Full Text] [Related]
19. [Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].
Zhao P; Ma H; Wang Y; Mi Z; Wu Y; Jiang M; Gao H; Li Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Feb; 16(1):16-8. PubMed ID: 9949234
[TBL] [Abstract][Full Text] [Related]
20. [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE; Poggi H; Repetto G; García C; Foradori A; Cattani A
Rev Med Chil; 2003 Dec; 131(12):1405-10. PubMed ID: 15022403
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]