104 related articles for article (PubMed ID: 25636092)
1. [Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
Cao Y; Qu Y; Song F; Bai J; Jin Y; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):16-20. PubMed ID: 25636092
[TBL] [Abstract][Full Text] [Related]
2. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Cao YY; Qu YJ; Song F; Zhang T; Bai JL; Jin YW; Wang H
Mol Genet Metab; 2014 Dec; 113(4):261-6. PubMed ID: 25456745
[TBL] [Abstract][Full Text] [Related]
3. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
Lu C; Wu W; Xiao J; Meng Y; Zhang S; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):301-4. PubMed ID: 23744319
[TBL] [Abstract][Full Text] [Related]
4. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F; Allcock RJ; Hooper AJ; van Bockxmeer FM
Atherosclerosis; 2013 Oct; 230(2):249-55. PubMed ID: 24075752
[TBL] [Abstract][Full Text] [Related]
5. [Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].
Sun Y; Jiang T; Ma D; Yang G; Yang B; Wang Y; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):56-9. PubMed ID: 25636100
[TBL] [Abstract][Full Text] [Related]
6. Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in
Hwang SM; Lee KC; Lee MS; Park KU
Cancer Res Treat; 2018 Jan; 50(1):255-264. PubMed ID: 28392550
[TBL] [Abstract][Full Text] [Related]
7. Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.
Singh RR; Patel KP; Routbort MJ; Reddy NG; Barkoh BA; Handal B; Kanagal-Shamanna R; Greaves WO; Medeiros LJ; Aldape KD; Luthra R
J Mol Diagn; 2013 Sep; 15(5):607-22. PubMed ID: 23810757
[TBL] [Abstract][Full Text] [Related]
8. Validation of the Ion Torrent PGM sequencing for the prospective routine molecular diagnostic of colorectal cancer.
Belardinilli F; Capalbo C; Buffone A; Petroni M; Colicchia V; Ferraro S; Zani M; Nicolussi A; D'Inzeo S; Coppa A; Screpanti I; Gulino A; Giannini G
Clin Biochem; 2015 Sep; 48(13-14):908-10. PubMed ID: 25872148
[TBL] [Abstract][Full Text] [Related]
9. [Establishing the Ion Torrent PGM Sequencing Methods for the Clinical Diagnosis of MPN Patients].
Huang JX; Li YL; Xu N; Yin CX; Zhou X; Pan CY; He BL; Lu ZY; Liu QF; Liu XL
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2017 Dec; 25(6):1744-1750. PubMed ID: 29262909
[TBL] [Abstract][Full Text] [Related]
10. Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu Y; Lu K; Yang G; Cen Z; Yu L; Lin L; Hao J; Yang Z; Peng J; Cui S; Huang J
PLoS One; 2014; 9(4):e94100. PubMed ID: 24705691
[TBL] [Abstract][Full Text] [Related]
11. Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G; Chanavat V; Rousson R
Clin Chim Acta; 2014 Jun; 433():266-71. PubMed ID: 24721642
[TBL] [Abstract][Full Text] [Related]
12. Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
Hassan SM; Vossen RH; Chessa R; den Dunnen JT; Bakker E; Giordano PC; Harteveld CL
Blood Cells Mol Dis; 2014 Sep; 53(3):133-7. PubMed ID: 24880717
[TBL] [Abstract][Full Text] [Related]
13. [Comparison of different massive parallel sequencing platforms for mutation profiling in formalin-fixed and paraffin-embedded samples].
Jiang RR; Wang YJ; Teng XD; Xiao L; Bu H; Ye F
Zhonghua Bing Li Xue Za Zhi; 2018 Aug; 47(8):591-596. PubMed ID: 30107663
[No Abstract] [Full Text] [Related]
14. Versatile ion S5XL sequencer for targeted next generation sequencing of solid tumors in a clinical laboratory.
Mehrotra M; Duose DY; Singh RR; Barkoh BA; Manekia J; Harmon MA; Patel KP; Routbort MJ; Medeiros LJ; Wistuba II; Luthra R
PLoS One; 2017; 12(8):e0181968. PubMed ID: 28767674
[TBL] [Abstract][Full Text] [Related]
15. Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer.
Fujita S; Masago K; Takeshita J; Okuda C; Otsuka K; Hata A; Kaji R; Katakami N; Hirata Y
PLoS One; 2015; 10(6):e0130219. PubMed ID: 26076009
[TBL] [Abstract][Full Text] [Related]
16. [Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
Su R; Zhu L; Lin Y; Zhu J; Zheng F; Fu Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1062-1066. PubMed ID: 31703126
[TBL] [Abstract][Full Text] [Related]
17. Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.
Chan M; Ji SM; Yeo ZX; Gan L; Yap E; Yap YS; Ng R; Tan PH; Ho GH; Ang P; Lee AS
J Mol Diagn; 2012 Nov; 14(6):602-12. PubMed ID: 22921312
[TBL] [Abstract][Full Text] [Related]
18. Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients.
Malapelle U; Vigliar E; Sgariglia R; Bellevicine C; Colarossi L; Vitale D; Pallante P; Troncone G
J Clin Pathol; 2015 Jan; 68(1):64-8. PubMed ID: 25378536
[TBL] [Abstract][Full Text] [Related]
19. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
Tavira B; Gómez J; Málaga S; Santos F; Fernández-Aracama J; Alonso B; Iglesias S; Benavides A; Hernando I; Plasencia A; Alvarez V; Coto E
Gene; 2015 Apr; 561(1):165-9. PubMed ID: 25701400
[TBL] [Abstract][Full Text] [Related]
20. The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I; Gundorova P; Ryzhkova O; Polyakov A
Metab Brain Dis; 2019 Dec; 34(6):1547-1555. PubMed ID: 31332730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
