Summar M - Search Results

1

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S; Urea Cycle Disorders Consortium; Lichtarge O, Rubio V, Wong LJ, Summar M. Häberle J, et al. Among authors: summar s, summar m. Hum Mutat. 2011 Jun;32(6):579-89. doi: 10.1002/humu.21406. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21120950 Free PMC article.

2

Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

Diez-Fernandez C, Martínez AI, Pekkala S, Barcelona B, Pérez-Arellano I, Guadalajara AM, Summar M, Cervera J, Rubio V. Diez-Fernandez C, et al. Among authors: summar m. Hum Mutat. 2013 Aug;34(8):1149-59. doi: 10.1002/humu.22349. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649895 Free article.

3

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

Summar ML, Hall L, Christman B, Barr F, Smith H, Kallianpur A, Brown N, Yadav M, Willis A, Eeds A, Cermak E, Summar S, Wilson A, Arvin M, Putnam A, Wills M, Cunningham G. Summar ML, et al. Among authors: summar s. Mol Genet Metab. 2004 Apr;81 Suppl 1:S12-9. doi: 10.1016/j.ymgme.2003.11.014. Mol Genet Metab. 2004. PMID: 15050969

4

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.

Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. Summar ML, et al. Gene. 2003 Jun 5;311:51-7. doi: 10.1016/s0378-1119(03)00528-6. Gene. 2003. PMID: 12853138

5

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. Eeds AM, et al. Among authors: summar ml, summar s. Mol Genet Metab. 2006 Sep-Oct;89(1-2):80-6. doi: 10.1016/j.ymgme.2006.04.006. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16737834

6

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Spiekerkoetter U, et al. Among authors: summar m. Hum Mutat. 2002 Dec;20(6):447-51. doi: 10.1002/humu.10142. Hum Mutat. 2002. PMID: 12442268

7

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

Eeds AM, Mortlock D, Wade-Martins R, Summar ML. Eeds AM, et al. Among authors: summar ml. Am J Hum Genet. 2007 Apr;80(4):740-50. doi: 10.1086/513287. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357079 Free PMC article.

8

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M; Urea Cycle Disorder Consortium. Mitchell S, et al. Among authors: summar m. Hum Mutat. 2009 Jan;30(1):56-60. doi: 10.1002/humu.20813. Hum Mutat. 2009. PMID: 18666241

9

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.

Canter JA, Summar ML, Smith HB, Rice GD, Hall LD, Ritchie MD, Motsinger AA, Christian KG, Drinkwater DC Jr, Scholl FG, Dyer KL, Kavanaugh-McHugh AL, Barr FE. Canter JA, et al. Mitochondrion. 2007 May;7(3):204-10. doi: 10.1016/j.mito.2006.11.001. Epub 2006 Nov 29. Mitochondrion. 2007. PMID: 17188582 Free PMC article.

10

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.

Summar ML, Gainer JV, Pretorius M, Malave H, Harris S, Hall LD, Weisberg A, Vaughan DE, Christman BW, Brown NJ. Summar ML, et al. Hypertension. 2004 Feb;43(2):186-91. doi: 10.1161/01.HYP.0000112424.06921.52. Epub 2004 Jan 12. Hypertension. 2004. PMID: 14718356

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