17576681 9536098 26802932 29775506 15955093 16817193 19017046 23001123 24262145 25243380 28561207 29691679 32801363 33307271[uid] - Search Results

Year	Number of Results
1998	1
2005	1
2006	1
2007	1
2008	1
2012	1
2013	1
2014	2
2016	1
2017	1
2018	2
2020	2
2021	2
2024	0

1

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I. Buratti E, et al. Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18. Nucleic Acids Res. 2007. PMID: 17576681 Free PMC article.

2

Statistical features of human exons and their flanking regions.

Zhang MQ. Zhang MQ. Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919. Hum Mol Genet. 1998. PMID: 9536098

3

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M. Kono M, et al. J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21. J Invest Dermatol. 2016. PMID: 26802932 Free article. No abstract available.

4

Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1.

Kono M, Suganuma M, Shimada T, Ishikura Y, Watanabe S, Takeichi T, Muro Y, Akiyama M. Kono M, et al. J Eur Acad Dermatol Venereol. 2018 Oct;32(10):e394-e396. doi: 10.1111/jdv.15076. Epub 2018 Jun 11. J Eur Acad Dermatol Venereol. 2018. PMID: 29775506 No abstract available.

5

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.

Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Fukai K, Takama H, Sato K, Ishikawa O, Abe M, Shimizu H, Kawai M, Horikawa T, Yoshida K, Matsumoto K, Terui T, Tsujioka K, Tomita Y. Suzuki N, et al. J Invest Dermatol. 2005 Jun;124(6):1186-92. doi: 10.1111/j.0022-202X.2005.23732.x. J Invest Dermatol. 2005. PMID: 15955093 Free article.

6

Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.

Tojo K, Sekijima Y, Suzuki T, Suzuki N, Tomita Y, Yoshida K, Hashimoto T, Ikeda S. Tojo K, et al. Mov Disord. 2006 Sep;21(9):1510-3. doi: 10.1002/mds.21011. Mov Disord. 2006. PMID: 16817193

7

Dyschromatosis symmetrica hereditaria associated with neurological disorders.

Kondo T, Suzuki T, Ito S, Kono M, Negoro T, Tomita Y. Kondo T, et al. J Dermatol. 2008 Oct;35(10):662-6. doi: 10.1111/j.1346-8138.2008.00540.x. J Dermatol. 2008. PMID: 19017046

8

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.

9

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ. Livingston JH, et al. J Med Genet. 2014 Feb;51(2):76-82. doi: 10.1136/jmedgenet-2013-102038. Epub 2013 Nov 21. J Med Genet. 2014. PMID: 24262145

10

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Crow YJ, et al. Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22. Neuropediatrics. 2014. PMID: 25243380

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