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Items: 9

1.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR.

Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2.

2.

Understanding human glycosylation disorders: biochemistry leads the charge.

Freeze HH.

J Biol Chem. 2013 Mar 8;288(10):6936-45. doi: 10.1074/jbc.R112.429274. Epub 2013 Jan 17. Review.

3.

Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.

Ballester LY, Luthra R, Kanagal-Shamanna R, Singh RR.

Expert Rev Mol Diagn. 2016;16(3):357-72. doi: 10.1586/14737159.2016.1133298. Epub 2016 Jan 18. Review.

PMID:
26680590
4.

Congenital disorders of glycosylation: new defects and still counting.

Scott K, Gadomski T, Kozicz T, Morava E.

J Inherit Metab Dis. 2014 Jul;37(4):609-17. doi: 10.1007/s10545-014-9720-9. Epub 2014 May 15. Review.

5.

Target-enrichment strategies for next-generation sequencing.

Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ.

Nat Methods. 2010 Feb;7(2):111-8. doi: 10.1038/nmeth.1419. Review.

PMID:
20111037
6.

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.

Sparks SE, Krasnewich DM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Aug 15 [updated 2017 Jan 12].

7.

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.

Lyons JJ, Milner JD, Rosenzweig SD.

Front Pediatr. 2015 Jun 11;3:54. doi: 10.3389/fped.2015.00054. eCollection 2015. Review.

8.

[Advances of Molecular Diagnostic Techniques Application in Clinical Diagnosis.]

Ying BW.

Sichuan Da Xue Xue Bao Yi Xue Ban. 2016 Nov;47(6):908-915. Review. Chinese.

PMID:
28598123
9.

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C.

Neuropediatrics. 2017 Aug;48(4):242-246. doi: 10.1055/s-0037-1602660. Epub 2017 May 8. Review. No abstract available.

PMID:
28482373

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