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Page 1
Rare copy number variants implicated in posterior urethral valves.
Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL. Boghossian NS, et al. Among authors: mills jl. Am J Med Genet A. 2016 Mar;170(3):622-33. doi: 10.1002/ajmg.a.37493. Epub 2015 Dec 14. Am J Med Genet A. 2016. PMID: 26663319 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: mills jl. 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: mills jl. 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.
Rare copy number variants identified in prune belly syndrome.
Boghossian NS, Sicko RJ, Giannakou A, Dimopoulos A, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Romitti PA, Browne ML, Fan R, Liu A, Kay DM, Mills JL. Boghossian NS, et al. Among authors: mills jl. Eur J Med Genet. 2018 Mar;61(3):145-151. doi: 10.1016/j.ejmg.2017.11.008. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174092 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: mills jl. 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.
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Martínez de LaPiscina I, Hernández-Ramírez LC, Portillo N, Gómez-Gila AL, Urrutia I, Martínez-Salazar R, García-Castaño A, Aguayo A, Rica I, Gaztambide S, Faucz FR, Keil MF, Lodish MB, Quezado M, Pankratz N, Chittiboina P, Lane J, Kay DM, Mills JL, Castaño L, Stratakis CA. Martínez de LaPiscina I, et al. Among authors: mills jl. Front Endocrinol (Lausanne). 2020 Jul 3;11:433. doi: 10.3389/fendo.2020.00433. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32714280 Free PMC article.
Predicting the risk of cardiac myxoma in Carney complex.
Pitsava G, Zhu C, Sundaram R, Mills JL, Stratakis CA. Pitsava G, et al. Among authors: mills jl. Genet Med. 2021 Jan;23(1):80-85. doi: 10.1038/s41436-020-00956-3. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893266 Free PMC article.
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
Lodge EJ, Xekouki P, Silva TS, Kochi C, Longui CA, Faucz FR, Santambrogio A, Mills JL, Pankratz N, Lane J, Sosnowska D, Hodgson T, Patist AL, Francis-West P, Helmbacher F, Stratakis C, Andoniadou CL. Lodge EJ, et al. Among authors: mills jl. JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. JCI Insight. 2020. PMID: 33108146 Free PMC article.
643 results