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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Among authors: shchelochkov oa. Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5. Hum Mol Genet. 2013. PMID: 23221805 Free PMC article.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Among authors: shchelochkov oa. Hum Mol Genet. 2020 Apr 15;29(6):1054. doi: 10.1093/hmg/ddz307. Hum Mol Genet. 2020. PMID: 32016392 Free PMC article. No abstract available.
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Wat MJ, et al. Among authors: shchelochkov oa. J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680. J Med Genet. 2011. PMID: 21525063 Free PMC article.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Magoulas PL, et al. Among authors: shchelochkov oa. Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. Blood. 2018. PMID: 29784638 Free PMC article.
Signaling pathways in human skeletal dysplasias.
Baldridge D, Shchelochkov O, Kelley B, Lee B. Baldridge D, et al. Annu Rev Genomics Hum Genet. 2010;11:189-217. doi: 10.1146/annurev-genom-082908-150158. Annu Rev Genomics Hum Genet. 2010. PMID: 20690819 Review.
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
60 results