184 related articles for article (PubMed ID: 16434832)
1. 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]
2. 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]
3. [Prenatal diagnosis of achondroplasia].
Huang X; Huang LH; Fang Q; Chen ML; Zhou Y; Cai J; Chen BJ; Chen JH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):427-9. PubMed ID: 18683143
[TBL] [Abstract][Full Text] [Related]
4. Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
He X; Xie F; Ren ZR
Genet Test Mol Biomarkers; 2012 Apr; 16(4):297-301. PubMed ID: 22339077
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Etlik O; Koksal V; Tugba Arican-Baris S; Baris I
Mol Cell Probes; 2008 Apr; 22(2):71-5. PubMed ID: 17683901
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. 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]
9. Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia.
Khanal SB; Shrestha M; Chaudhary HK; Shrestha S; Pokharel RK
JNMA J Nepal Med Assoc; 2018; 56(211):683-686. PubMed ID: 30381765
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
Kotysova L; Mattosova S; Chandoga J
Bratisl Lek Listy; 2015; 116(8):465-8. PubMed ID: 26350084
[TBL] [Abstract][Full Text] [Related]
14. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay.
Li Y; Page-Christiaens GC; Gille JJ; Holzgreve W; Hahn S
Prenat Diagn; 2007 Jan; 27(1):11-7. PubMed ID: 17154237
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.
Patil SJ; Banerjee M; Phadke SR; Mittal B
Indian J Pediatr; 2009 Feb; 76(2):147-9. PubMed ID: 19330302
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients].
Ni J; Lu G; Wang W; Chen F; Qin H; Wang D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):205-8. PubMed ID: 12048679
[TBL] [Abstract][Full Text] [Related]
18. Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.
Katsumata N; Mikami S; Nagashima-Miyokawa A; Nimura A; Sato N; Horikawa R; Tanae A; Tanaka T
Endocr J; 2000 Mar; 47 Suppl():S121-4. PubMed ID: 10890199
[TBL] [Abstract][Full Text] [Related]
19. [Diagnosing achondroplasia by single cell nested-PCR].
Zhong CG; Li LY; Lu CF; Lin G; Fu JJ; Luo KL; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun; 20(3):228-31. PubMed ID: 12778450
[TBL] [Abstract][Full Text] [Related]
20. The G1138A mutation rate in the fibroblast growth factor receptor 3 (FGFR3) gene is increased in cells carrying the t (4; 14) translocation.
Reddy PL; Grewal RP
Genet Mol Res; 2009 Apr; 8(2):435-9. PubMed ID: 19551630
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
