Wong LJ - Search Results

1

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

2

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.

3

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

4

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.

5

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

6

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.

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

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Landsverk ML, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10. Mol Genet Metab. 2011. PMID: 21482165

9

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: wong lj. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

10

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Tang S, Dimberg EL, Milone M, Wong LJ. Tang S, et al. Among authors: wong lj. J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13. J Neurol. 2012. PMID: 21993618

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