Craigen WJ - Search Results

1

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: craigen wj. 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

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

The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo.

Decker WK, Craigen WJ. Decker WK, et al. Among authors: craigen wj. Mol Genet Metab. 2000 May;70(1):69-74. doi: 10.1006/mgme.2000.2987. Mol Genet Metab. 2000. PMID: 10833333

4

A mouse model of argininosuccinic aciduria: biochemical characterization.

Reid Sutton V, Pan Y, Davis EC, Craigen WJ. Reid Sutton V, et al. Among authors: craigen wj. Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/s1096-7192(02)00206-8. Mol Genet Metab. 2003. PMID: 12559843

5

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

6

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

7

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: craigen wj. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.

8

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

9

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: craigen wj. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204

10

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Mohapatra B, et al. Among authors: craigen wj. Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8. Hum Mol Genet. 2009. PMID: 19064609 Free PMC article.

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