Shchelochkov OA - Search Results

1

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Among authors: shchelochkov oa. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.

2

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Shaibani A, et al. Among authors: shchelochkov oa. Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139. Arch Neurol. 2009. PMID: 19667227 Free PMC article.

3

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Erez A, et al. Among authors: shchelochkov oa. Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005. Am J Hum Genet. 2011. PMID: 21473982 Free PMC article. Review.

4

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

5

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Shchelochkov O, Wong LJ, Shaibani A, Shinawi M. Shchelochkov O, et al. Muscle Nerve. 2009 Mar;39(3):374-82. doi: 10.1002/mus.21157. Muscle Nerve. 2009. PMID: 19208414

6

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Wat MJ, et al. Among authors: shchelochkov oa. Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896. Am J Med Genet A. 2009. PMID: 19606479 Free PMC article.

7

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Schaaf CP, et al. Among authors: shchelochkov oa. Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617343 Free PMC article.

8

Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.

Mendez-Figueroa H, Shchelochkov OA, Shaibani A, Aagaard-Tillery K, Shinawi MS. Mendez-Figueroa H, et al. Among authors: shchelochkov oa. J Perinatol. 2010 Aug;30(8):558-62. doi: 10.1038/jp.2009.198. J Perinatol. 2010. PMID: 20668464

9

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Shchelochkov OA, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24. Mol Genet Metab. 2010. PMID: 20728387

10

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

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