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Page 1
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.
Vocke CD, Ricketts CJ, Pack S, Raffeld M, Hewitt S, Lebensohn AP, O'Brien L, Gautam R, Reynolds K, Schmidt LS, Choo K, Kenigsberg A, Gurram S, Chew EY, Nilubol N, Chittaboina P, Merino MJ, Ball MW, Linehan WM. Vocke CD, et al. Among authors: ball mw. J Med Genet. 2024 Oct 23;61(11):1026-1030. doi: 10.1136/jmg-2024-110202. J Med Genet. 2024. PMID: 39317422 Free PMC article.
Automatic segmentation of clear cell renal cell tumors, kidney, and cysts in patients with von Hippel-Lindau syndrome using U-net architecture on magnetic resonance images.
Anari PY, Lay N, Chaurasia A, Gopal N, Samimi S, Harmon S, Gautam R, Ma K, Firouzabadi FD, Turkbey E, Merino M, Jones EC, Ball MW, Linehan WM, Turkbey B, Malayeri AA. Anari PY, et al. Among authors: ball mw. ArXiv [Preprint]. 2023 Jan 6:arXiv:2301.02538v1. ArXiv. 2023. PMID: 36789136 Free PMC article. Preprint.
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.
Di Malta C, Zampelli A, Granieri L, Vilardo C, De Cegli R, Cinque L, Nusco E, Pece S, Tosoni D, Sanguedolce F, Sorrentino NC, Merino MJ, Nielsen D, Srinivasan R, Ball MW, Ricketts CJ, Vocke CD, Lang M, Karim B, Lanfrancone L, Schmidt LS, Linehan WM, Ballabio A. Di Malta C, et al. Among authors: ball mw. EMBO Mol Med. 2023 May 8;15(5):e16877. doi: 10.15252/emmm.202216877. Epub 2023 Mar 29. EMBO Mol Med. 2023. PMID: 36987696 Free PMC article.
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, Tandon M, Merino MJ, Ball MW, Meier JL, Batista PJ, Linehan WM. Crooks DR, et al. Among authors: ball mw. Hum Mol Genet. 2023 Nov 3;32(22):3135-3145. doi: 10.1093/hmg/ddad131. Hum Mol Genet. 2023. PMID: 37561409 Free PMC article.
Non-Invasive Tumor Grade Evaluation in Von Hippel-Lindau-Associated Clear Cell Renal Cell Carcinoma: A Magnetic Resonance Imaging-Based Study.
Zahergivar A, Yazdian Anari P, Mendhiratta N, Lay N, Singh S, Dehghani Firouzabadi F, Chaurasia A, Golagha M, Homayounieh F, Gautam R, Harmon S, Turkbey E, Merino M, Jones EC, Ball MW, Turkbey B, Linehan WM, Malayeri AA. Zahergivar A, et al. Among authors: ball mw. J Magn Reson Imaging. 2024 Sep;60(3):1076-1081. doi: 10.1002/jmri.29222. Epub 2024 Feb 1. J Magn Reson Imaging. 2024. PMID: 38299714
158 results