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

Year Number of Results
1977 1
1985 3
1986 2
1988 1
1989 2
1990 1
1991 1
1993 3
1994 3
1995 2
1996 2
1997 1
1998 1
1999 2
2000 2
2001 2
2002 5
2003 6
2004 1
2005 5
2006 4
2007 4
2008 7
2009 6
2010 3
2011 2
2012 5
2013 4
2015 8
2016 8
2017 8
2018 9
2019 4
2020 8
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Article type
Publication date

Similar Articles for PMID: 20595373

114 results
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Neuroradiologic features of CASK mutations.
Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ. Takanashi J, et al. AJNR Am J Neuroradiol. 2010 Oct;31(9):1619-22. doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1. AJNR Am J Neuroradiol. 2010. PMID: 20595373 Free PMC article.
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. Hayashi S, et al. Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047-0. Epub 2011 Jul 7. Hum Genet. 2012. PMID: 21735175
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, Maruyama K, Mizuno S, Shimakawa S, Ono H, Oyanagi R, Kubo S, Barkovich AJ, Inazawa J. Takanashi J, et al. Am J Med Genet A. 2012 Dec;158A(12):3112-8. doi: 10.1002/ajmg.a.35640. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165780
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J. Hayashi S, et al. PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017. PLoS One. 2017. PMID: 28783747 Free PMC article.
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K. LaConte LEW, et al. Hum Genet. 2018 Mar;137(3):231-246. doi: 10.1007/s00439-018-1874-3. Epub 2018 Feb 9. Hum Genet. 2018. PMID: 29426960 Free PMC article.
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR. Cristofoli F, et al. Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11. Hum Mutat. 2018. PMID: 29691940 Free PMC article.
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