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Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Hernández-Ramírez LC, Pankratz N, Lane J, Faucz FR, Chittiboina P, Kay DM, Beethem Z, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: lane j. Genet Med. 2022 Dec;24(12):2516-2525. doi: 10.1016/j.gim.2022.08.021. Epub 2022 Sep 23. Genet Med. 2022. PMID: 36149413 Free PMC article.
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA. Faucz FR, et al. Among authors: lane j. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161. J Clin Endocrinol Metab. 2017. PMID: 28505279 Free PMC article.
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: lane j. Endocr Relat Cancer. 2017 Aug;24(8):379-392. doi: 10.1530/ERC-17-0131. Epub 2017 May 22. Endocr Relat Cancer. 2017. PMID: 28533356 Free PMC article.
Association of Mitochondrial DNA Copy Number With Cardiovascular Disease.
Ashar FN, Zhang Y, Longchamps RJ, Lane J, Moes A, Grove ML, Mychaleckyj JC, Taylor KD, Coresh J, Rotter JI, Boerwinkle E, Pankratz N, Guallar E, Arking DE. Ashar FN, et al. Among authors: lane j. JAMA Cardiol. 2017 Nov 1;2(11):1247-1255. doi: 10.1001/jamacardio.2017.3683. JAMA Cardiol. 2017. PMID: 29049454 Free PMC article.
Corticotropinoma as a Component of Carney Complex.
Hernández-Ramírez LC, Tatsi C, Lodish MB, Faucz FR, Pankratz N, Chittiboina P, Lane J, Kay DM, Valdés N, Dimopoulos A, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: lane j. J Endocr Soc. 2017 May 30;1(7):918-925. doi: 10.1210/js.2017-00231. eCollection 2017 Jul 1. J Endocr Soc. 2017. PMID: 29264542 Free PMC article.
Evaluation of mitochondrial DNA copy number estimation techniques.
Longchamps RJ, Castellani CA, Yang SY, Newcomb CE, Sumpter JA, Lane J, Grove ML, Guallar E, Pankratz N, Taylor KD, Rotter JI, Boerwinkle E, Arking DE. Longchamps RJ, et al. Among authors: lane j. PLoS One. 2020 Jan 31;15(1):e0228166. doi: 10.1371/journal.pone.0228166. eCollection 2020. PLoS One. 2020. PMID: 32004343 Free PMC article.
3,157 results