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Results by year

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

Year Number of Results
1967 1
1969 2
1972 1
1974 1
1976 1
1981 1
1984 1
1985 1
1986 1
1987 1
1988 1
1991 1
1992 1
1993 2
1994 3
1996 1
1997 2
1998 1
1999 4
2000 1
2001 3
2002 1
2003 1
2004 3
2005 3
2006 1
2007 3
2012 2
2013 2
2014 2
2015 1
2021 1
2022 2
2024 0

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PubMed (OMIM) for id: 4598

53 results

Results by year

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Page 1
Homozygous V377I mutation causing mevalonate kinase.
Brito T, Banganho D, Pedrosa C, Farela Neves J. Brito T, et al. BMJ Case Rep. 2022 Apr 6;15(4):e249135. doi: 10.1136/bcr-2022-249135. BMJ Case Rep. 2022. PMID: 35387795 Free PMC article.
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B, Martins AL, Charbit-Henrion F, Meinzer U, Belot A, Cuisset L, Faye A, Georgin-Lavialle S, Quartier P, Remy-Piccolo V, Ruemmele F, Uettwiller F, Viala J, Cerf Bensussan N, Berrebi D, Melki I. Bader-Meunier B, et al. Inflamm Bowel Dis. 2021 Oct 20;27(11):1853-1857. doi: 10.1093/ibd/izab139. Inflamm Bowel Dis. 2021. PMID: 34525209
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z. Zhang Z, et al. Elife. 2015 Jul 23;4:e06322. doi: 10.7554/eLife.06322. Elife. 2015. PMID: 26202976 Free PMC article.
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ. Siemiatkowska AM, et al. Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29. Ophthalmology. 2013. PMID: 24084495
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ. Zhang SQ, et al. Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16. Nat Genet. 2012. PMID: 22983302
53 results