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Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.
Takei R, Cadzow M, Markie D, Bixley M, Phipps-Green A, Major TJ, Li C, Choi HK, Li Z, Hu H; Eurogout Consortium; Guo H, He M, Shi Y, Stamp LK, Dalbeth N, Merriman TR, Wei WH. Takei R, et al. Among authors: markie d. J Hum Genet. 2021 Feb;66(2):161-169. doi: 10.1038/s10038-020-0821-z. Epub 2020 Aug 10. J Hum Genet. 2021. PMID: 32778763
Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.
Takei R, Cadzow M, Markie D, Bixley M, Phipps-Green A, Major TJ, Li C, Choi HK, Li Z, Hu H; Eurogout Consortium; Guo H, He M, Shi Y, Stamp LK, Dalbeth N, Merriman TR, Wei WH. Takei R, et al. Among authors: markie d. J Hum Genet. 2021 Feb;66(2):225. doi: 10.1038/s10038-020-00833-6. J Hum Genet. 2021. PMID: 32901114 No abstract available.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805041 Free PMC article.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. Am J Hum Genet. 2019. PMID: 31491409 Free PMC article. No abstract available.
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL. Oliver VF, et al. Among authors: markie d. Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16. Ophthalmology. 2016. PMID: 26786512 Free article.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Bunn KJ, et al. Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817014 Free PMC article.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Jenkins ZA, et al. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29024177
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: markie dm. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.
79 results