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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1991 1
1996 1
1998 1
1999 2
2002 1
2004 2
2007 1
2009 2
2010 1
2011 4
2012 5
2013 8
2014 6
2015 7
2016 10
2017 10
2018 12
2019 16
2020 9
2021 9
2022 8
2023 4
2024 0

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Similar articles for PMID: 28422808

102 results

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New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K. Tuzovic L, et al. Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13. Fetal Diagn Ther. 2015. PMID: 25998219
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Matera I, et al. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813947 Free PMC article.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG. Ravenscroft G, et al. Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21. Neurogastroenterol Motil. 2018. PMID: 29781137
102 results