Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A.

Hum Mutat. 2012 Jan;33(1):281-9. doi: 10.1002/humu.21602. Epub 2011 Oct 17.

2.

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Luzón-Toro B, Espino-Paisán L, Fernández RM, Martín-Sánchez M, Antiñolo G, Borrego S.

BMC Med Genet. 2015 Oct 5;16:89. doi: 10.1186/s12881-015-0235-5.

3.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

PMID:
22426013
4.

Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.

Au CH, Wa A, Ho DN, Chan TL, Ma ES.

Diagn Pathol. 2016 Jan 22;11:11. doi: 10.1186/s13000-016-0456-8.

5.

Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.

Luzón-Toro B, Fernández RM, Torroglosa A, de Agustín JC, Méndez-Vidal C, Segura DI, Antiñolo G, Borrego S.

PLoS One. 2013;8(1):e54800. doi: 10.1371/journal.pone.0054800. Epub 2013 Jan 23.

6.

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X.

Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.

PMID:
24161253
7.

Routine Clinical Mutation Profiling of Non-Small Cell Lung Cancer Using Next-Generation Sequencing.

Deeb KK, Hohman CM, Risch NF, Metzger DJ, Starostik P.

Arch Pathol Lab Med. 2015 Jul;139(7):913-21. doi: 10.5858/arpa.2014-0095-OA.

PMID:
26125431
8.

Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology.

Sie D, Snijders PJ, Meijer GA, Doeleman MW, van Moorsel MI, van Essen HF, Eijk PP, Grünberg K, van Grieken NC, Thunnissen E, Verheul HM, Smit EF, Ylstra B, Heideman DA.

Cell Oncol (Dordr). 2014 Oct;37(5):353-61. doi: 10.1007/s13402-014-0196-2. Epub 2014 Sep 11.

PMID:
25209392
9.

Comparison of next generation sequencing, SNaPshot assay and real-time polymerase chain reaction for lung adenocarcinoma EGFR mutation assessment.

Cernomaz AT, Macovei II, Pavel I, Grigoriu C, Marinca M, Baty F, Peter S, Zonda R, Brutsche M, Grigoriu B.

BMC Pulm Med. 2016 May 23;16(1):88. doi: 10.1186/s12890-016-0250-0.

10.

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A.

Hum Mol Genet. 1995 May;4(5):821-30.

PMID:
7633441
11.

Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.

Gui H, Bao JY, Tang CS, So MT, Ngo DN, Tran AQ, Bui DH, Pham DH, Nguyen TL, Tong A, Lok S, Sham PC, Tam PK, Cherny SS, Garcia-Barcelo MM.

Ann Hum Genet. 2014 Sep;78(5):381-7. doi: 10.1111/ahg.12076. Epub 2014 Jun 20.

12.

Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data.

Spencer DH, Abel HJ, Lockwood CM, Payton JE, Szankasi P, Kelley TW, Kulkarni S, Pfeifer JD, Duncavage EJ.

J Mol Diagn. 2013 Jan;15(1):81-93. doi: 10.1016/j.jmoldx.2012.08.001. Epub 2012 Nov 14.

13.

Phase-defined complete sequencing of the HLA genes by next-generation sequencing.

Hosomichi K, Jinam TA, Mitsunaga S, Nakaoka H, Inoue I.

BMC Genomics. 2013 May 28;14:355. doi: 10.1186/1471-2164-14-355.

14.

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

de Sousa Dias M, Hernan I, Pascual B, Borràs E, Mañé B, Gamundi MJ, Carballo M.

Mol Vis. 2013;19:654-64. Epub 2013 Mar 21.

15.

[Association of single nucleotide polymorphisms of Axis inhibitor-2 gene rs224030, rs8081536, rs9913621 with Hirschsprung disease].

Gao H, Zhang J, Wang W, Zhang Z, Huang Y, Zhang S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):697-700. Chinese.

PMID:
19065536
16.

Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.

Lin YC, Lai HS, Hsu WM, Lee PI, Chen HL, Chang MH.

J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):36-40.

PMID:
18162831
17.
18.

COLD-PCR enrichment of rare cancer mutations prior to targeted amplicon resequencing.

Milbury CA, Correll M, Quackenbush J, Rubio R, Makrigiorgos GM.

Clin Chem. 2012 Mar;58(3):580-9. doi: 10.1373/clinchem.2011.176198. Epub 2011 Dec 21.

19.

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.

Hum Mutat. 2000;15(5):418-29.

PMID:
10790203
20.

[Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease].

Gao H, Li XF, Zhang ZB, Wang WL, Huang Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):82-5. Chinese.

PMID:
18247312

Supplemental Content

Support Center