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

Year Number of Results
2011 6
2012 15
2013 13
2014 10
2015 9
2016 11
2017 18
2018 12
2019 3
2020 4
2021 1
2022 1
2023 3
2024 0

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91 results

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Page 1
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.
Kooblall KG, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, Butterfield N, Leng H, Hough TA, Ma D, Siow B, Potter P, Cox RD, Brown SDM, Horwood N, Wright B, Lockstone H, Buck D, Vincent TL, Hannan FM, Bassett JHD, Williams GR, Lines KE, Piper M, Wells S, Teboul L, Hennekam RC, Thakker RV. Kooblall KG, et al. JBMR Plus. 2023 Mar 30;7(6):e10739. doi: 10.1002/jbm4.10739. eCollection 2023 Jun. JBMR Plus. 2023. PMID: 37283649 Free PMC article.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV. Howles SA, et al. J Bone Miner Res. 2023 Jun;38(6):907-917. doi: 10.1002/jbmr.4803. Epub 2023 Apr 18. J Bone Miner Res. 2023. PMID: 36970776 Free PMC article.
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.
Kooblall KG, Stokes VJ, Shariq OA, English KA, Stevenson M, Broxholme J, Wright B, Lockstone HE, Buck D, Grozinsky-Glasberg S, Yates CJ, Thakker RV, Lines KE. Kooblall KG, et al. Endocr Relat Cancer. 2022 Aug 4;29(10):557-568. doi: 10.1530/ERC-22-0045. Print 2022 Oct 1. Endocr Relat Cancer. 2022. PMID: 35900839 Free PMC article.
Aberrant methylation underlies insulin gene expression in human insulinoma.
Karakose E, Wang H, Inabnet W, Thakker RV, Libutti S, Fernandez-Ranvier G, Suh H, Stevenson M, Kinoshita Y, Donovan M, Antipin Y, Li Y, Liu X, Jin F, Wang P, Uzilov A, Argmann C, Schadt EE, Stewart AF, Scott DK, Lambertini L. Karakose E, et al. Nat Commun. 2020 Oct 15;11(1):5210. doi: 10.1038/s41467-020-18839-1. Nat Commun. 2020. PMID: 33060578 Free PMC article.
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.
Gaynor KU, Grigorieva IV, Mirczuk SM, Piret S, Kooblall KG, Stevenson M, Rizzoti K, Bowl MR, Nesbit MA, Christie PT, Fraser WD, Hough T, Whyte MP, Lovell-Badge R, Thakker R. Gaynor KU, et al. Endocr Connect. 2020 Jan 1;9(2):173-86. doi: 10.1530/EC-19-0478. Online ahead of print. Endocr Connect. 2020. PMID: 31961795 Free PMC article.
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
Gorvin CM, Loh NY, Stechman MJ, Falcone S, Hannan FM, Ahmad BN, Piret SE, Reed AA, Jeyabalan J, Leo P, Marshall M, Sethi S, Bass P, Roberts I, Sanderson J, Wells S, Hough TA, Bentley L, Christie PT, Simon MM, Mallon AM, Schulz H, Cox RD, Brown MA, Huebner N, Brown SD, Thakker RV. Gorvin CM, et al. J Bone Miner Res. 2019 Jul;34(7):1324-1335. doi: 10.1002/jbmr.3695. Epub 2019 Mar 4. J Bone Miner Res. 2019. PMID: 30830987 Free PMC article.
91 results