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Did you mean mary s mccabe[Author] (69 results)?
Diagnosis and evaluation of hypogonadism.
McCabe MJ, Bancalari RE, Dattani MT. McCabe MJ, et al. Pediatr Endocrinol Rev. 2014 Feb;11 Suppl 2:214-29. Pediatr Endocrinol Rev. 2014. PMID: 24683946 Review.
Pituitary gland development: an update.
Bancalari RE, Gregory LC, McCabe MJ, Dattani MT. Bancalari RE, et al. Among authors: mccabe mj. Endocr Dev. 2012;23:1-15. doi: 10.1159/000341733. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182816 Review.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ. Sullivan PJ, et al. Among authors: mccabe mj. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer.
Cipponi A, Goode DL, Bedo J, McCabe MJ, Pajic M, Croucher DR, Rajal AG, Junankar SR, Saunders DN, Lobachevsky P, Papenfuss AT, Nessem D, Nobis M, Warren SC, Timpson P, Cowley M, Vargas AC, Qiu MR, Generali DG, Keerthikumar S, Nguyen U, Corcoran NM, Long GV, Blay JY, Thomas DM. Cipponi A, et al. Among authors: mccabe mj. Science. 2020 Jun 5;368(6495):1127-1131. doi: 10.1126/science.aau8768. Science. 2020. PMID: 32499442
The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT. Gregory LC, et al. Among authors: mccabe mj. Eur J Endocrinol. 2021 May 25;185(1):121-135. doi: 10.1530/EJE-20-1453. Eur J Endocrinol. 2021. PMID: 33950863 Free PMC article.
Structural pituitary abnormalities associated with CHARGE syndrome.
Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT. Gregory LC, et al. Among authors: mccabe mj. J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. doi: 10.1210/jc.2012-3467. Epub 2013 Mar 22. J Clin Endocrinol Metab. 2013. PMID: 23526466 Free PMC article.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab. McCabe MJ, et al. Sci Rep. 2019 Nov 19;9(1):17052. doi: 10.1038/s41598-019-52000-3. Sci Rep. 2019. PMID: 31745186 Free PMC article.
24 results