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Page 1
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: shchelochkov oa. 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.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. Shchelochkov OA, et al. Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12. Mol Genet Metab. 2009. PMID: 19138872
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Hanchard NA, et al. Among authors: shchelochkov oa. Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21478040
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: shchelochkov oa. 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.
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Nagamani SC, et al. Among authors: shchelochkov oa. J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6. J Med Genet. 2009. PMID: 19584063
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Lee B, et al. Mol Genet Metab. 2010 Jul;100(3):221-8. doi: 10.1016/j.ymgme.2010.03.014. Epub 2010 Mar 23. Mol Genet Metab. 2010. PMID: 20382058 Free PMC article. Clinical Trial.
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.
Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium; Lee B. Nagamani SC, et al. Among authors: shchelochkov oa. Mol Genet Metab. 2012 Nov;107(3):315-21. doi: 10.1016/j.ymgme.2012.09.016. Epub 2012 Sep 17. Mol Genet Metab. 2012. PMID: 23040521 Free PMC article. Clinical Trial.
60 results