Craigen WJ - Search Results

1

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: craigen wj. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

2

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.

Wong LJ, Craigen WJ, O'Brien WE. Wong LJ, et al. Among authors: craigen wj. Ann Intern Med. 1994 Feb 1;120(3):216-7. doi: 10.7326/0003-4819-120-3-199402010-00007. Ann Intern Med. 1994. PMID: 8273985 No abstract available.

3

Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease.

Graham BH, David Sweatt J, Craigen WJ. Graham BH, et al. Among authors: craigen wj. Methods. 2002 Apr;26(4):364-70. doi: 10.1016/S1046-2023(02)00043-9. Methods. 2002. PMID: 12054928 Review.

4

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Maheshwari M, et al. Among authors: craigen wj. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

5

Genetic approaches to analyzing mitochondrial outer membrane permeability.

Graham BH, Craigen WJ. Graham BH, et al. Among authors: craigen wj. Curr Top Dev Biol. 2004;59:87-118. doi: 10.1016/S0070-2153(04)59004-X. Curr Top Dev Biol. 2004. PMID: 14975248 Review. No abstract available.

6

Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.

Sano M, Wang SC, Shirai M, Scaglia F, Xie M, Sakai S, Tanaka T, Kulkarni PA, Barger PM, Youker KA, Taffet GE, Hamamori Y, Michael LH, Craigen WJ, Schneider MD. Sano M, et al. Among authors: craigen wj. EMBO J. 2004 Sep 1;23(17):3559-69. doi: 10.1038/sj.emboj.7600351. Epub 2004 Aug 5. EMBO J. 2004. PMID: 15297879 Free PMC article.

7

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Scaglia F, et al. Among authors: craigen wj. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086

8

Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression.

Graham BH, Craigen WJ. Graham BH, et al. Among authors: craigen wj. Mol Genet Metab. 2005 Aug;85(4):308-17. doi: 10.1016/j.ymgme.2005.03.009. Mol Genet Metab. 2005. PMID: 15886041

9

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Among authors: craigen wj. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.

10

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. Among authors: craigen wj. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

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