Nazarenko I - Search Results

1

Synovial Sarcoma Microvesicles Harbor the SYT-SSX Fusion Gene Transcript: Comparison of Different Methods of Detection and Implications in Biomarker Research.

Fricke A, Ullrich PV, Cimniak AF, Follo M, Nestel S, Heimrich B, Nazarenko I, Stark GB, Bannasch H, Braig D, Eisenhardt SU. Fricke A, et al. Among authors: nazarenko i. Stem Cells Int. 2016;2016:6146047. doi: 10.1155/2016/6146047. Epub 2016 Mar 16. Stem Cells Int. 2016. PMID: 27069481 Free PMC article.

2

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Hasanoglu A, et al. Among authors: nazarenko i. J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20. J Inherit Metab Dis. 2011. PMID: 21103937 Free PMC article.

3

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ. Weiss Y, et al. Among authors: nazarenko i. Mol Genet Metab. 2019 Nov;128(3):358-362. doi: 10.1016/j.ymgme.2018.08.015. Epub 2018 Aug 31. Mol Genet Metab. 2019. PMID: 30454868

4

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Scott SA, et al. Among authors: nazarenko i. Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29. Hepatology. 2013. PMID: 23424026 Free PMC article.

5

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Dobrovolny R, et al. Among authors: nazarenko i. Hum Mutat. 2011 Jun;32(6):688-95. doi: 10.1002/humu.21474. Epub 2011 Mar 29. Hum Mutat. 2011. PMID: 21305660

6

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Chen B, et al. Among authors: nazarenko i. J Inherit Metab Dis. 2019 Jan;42(1):186-194. doi: 10.1002/jimd.12040. J Inherit Metab Dis. 2019. PMID: 30740734 Free PMC article.

7

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ. Wozniak MA, et al. Among authors: nazarenko i. Stroke. 2010 Jan;41(1):78-81. doi: 10.1161/STROKEAHA.109.558320. Epub 2009 Dec 10. Stroke. 2010. PMID: 20007919 Free PMC article.

8

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Weiss Y, et al. Among authors: nazarenko i. Mol Genet Metab. 2019 Nov;128(3):363-366. doi: 10.1016/j.ymgme.2018.11.013. Epub 2018 Nov 28. Mol Genet Metab. 2019. PMID: 30514647 Free PMC article.

9

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: nazarenko i. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.

10

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Slavotinek AM, et al. Among authors: nazarenko i. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161670 Free PMC article.

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