Dimmock D - Search Results

1

Citrin deficiency, a perplexing global disorder.

Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Dimmock D, et al. Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036621

2

Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet.

Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Dimmock D, et al. Pediatrics. 2007 Mar;119(3):e773-7. doi: 10.1542/peds.2006-1950. Pediatrics. 2007. PMID: 17332192

3

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Wong LJ, et al. Among authors: dimmock d. Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16. Clin Chem. 2008. PMID: 18487280

4

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

Helbling D, Buchaklian A, Wang J, Wong LJ, Dimmock D. Helbling D, et al. Among authors: dimmock d. J Pediatr Gastroenterol Nutr. 2013 Oct;57(4):438-43. doi: 10.1097/MPG.0b013e31829ef4b4. J Pediatr Gastroenterol Nutr. 2013. PMID: 23783014 Free PMC article.

5

Real-time quantitative PCR analysis of mitochondrial DNA content.

Venegas V, Wang J, Dimmock D, Wong LJ. Venegas V, et al. Among authors: dimmock d. Curr Protoc Hum Genet. 2011 Jan;Chapter 19:Unit 19.7.. doi: 10.1002/0471142905.hg1907s68. Curr Protoc Hum Genet. 2011. PMID: 21234878

6

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. Ji JQ, et al. Among authors: dimmock d. Mitochondrion. 2010 Mar;10(2):188-91. doi: 10.1016/j.mito.2009.11.002. Epub 2009 Nov 10. Mitochondrion. 2010. PMID: 19900589

7

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Parikh S, et al. Among authors: dimmock d. Mol Genet Metab. 2016 Jul;118(3):178-184. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20. Mol Genet Metab. 2016. PMID: 27312126

8

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Dimmock D, et al. Hum Genet. 2009 Aug;126(2):341. Hum Genet. 2009. PMID: 19694025 No abstract available.

9

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Dimmock D, et al. Hum Genet. 2009 Aug;126(2):342. Hum Genet. 2009. PMID: 19694026 No abstract available.

10

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.

Collins J, Bove KE, Dimmock D, Morehart P, Wong LJ, Wong B. Collins J, et al. Among authors: dimmock d. Neuromuscul Disord. 2009 Nov;19(11):784-7. doi: 10.1016/j.nmd.2009.08.002. Epub 2009 Sep 6. Neuromuscul Disord. 2009. PMID: 19736010

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