Wong LJ - Search Results

1

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

2

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. El-Hattab AW, et al. Among authors: wong lj. Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13. Mol Genet Metab. 2010. PMID: 20074988

3

Mitochondrial DNA analysis in clinical laboratory diagnostics.

Wong LJ, Boles RG. Wong LJ, et al. Clin Chim Acta. 2005 Apr;354(1-2):1-20. doi: 10.1016/j.cccn.2004.11.003. Epub 2005 Jan 27. Clin Chim Acta. 2005. PMID: 15748595 Review.

4

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.

5

Current molecular diagnostic algorithm for mitochondrial disorders.

Wong LJ, Scaglia F, Graham BH, Craigen WJ. Wong LJ, et al. Mol Genet Metab. 2010 Jun;100(2):111-7. doi: 10.1016/j.ymgme.2010.02.024. Epub 2010 Mar 4. Mol Genet Metab. 2010. PMID: 20359921 Review.

6

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ. Dimmock D, et al. Among authors: wong lj. Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6. Clin Chem. 2010. PMID: 20448188

7

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sadikovic B, et al. Among authors: wong lj. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. PLoS One. 2010. PMID: 21187929 Free PMC article.

8

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. Among authors: wong lj. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868

9

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ. Wang J, et al. Among authors: wong lj. Genet Med. 2012 Jun;14(6):620-6. doi: 10.1038/gim.2012.4. Epub 2012 Mar 8. Genet Med. 2012. PMID: 22402757 Free article.

10

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Tang S, et al. Among authors: wong lj. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

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