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Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Among authors: pearce sh. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
Perrault syndrome: further evidence for genetic heterogeneity.
Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SH, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG. Jenkinson EM, et al. Among authors: pearce sh. J Neurol. 2012 May;259(5):974-6. doi: 10.1007/s00415-011-6285-5. Epub 2011 Oct 27. J Neurol. 2012. PMID: 22037954 No abstract available.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Saving lives of in-patients with adrenal insufficiency: implementation of an alert scheme within the Newcastle-upon-Tyne Hospitals e-Prescribing platform.
Mitchell AL, Napier C, Asam M, Siddaramaiah N, Heed A, Morris M, Miller M, Perros P, James RA, Ball SG, Pearce SH, Quinton R. Mitchell AL, et al. Among authors: pearce sh. Clin Endocrinol (Oxf). 2014 Dec;81(6):937-8. doi: 10.1111/cen.12457. Epub 2014 May 5. Clin Endocrinol (Oxf). 2014. PMID: 24712680 No abstract available.
Rethinking antithyroid drugs in pregnancy.
Napier C, Pearce SH. Napier C, et al. Among authors: pearce sh. Clin Endocrinol (Oxf). 2015 Apr;82(4):475-7. doi: 10.1111/cen.12577. Epub 2014 Oct 17. Clin Endocrinol (Oxf). 2015. PMID: 25098810
Subclinical hyperthyroidism: first do no harm.
Mitchell AL, Pearce SH. Mitchell AL, et al. Among authors: pearce sh. Clin Endocrinol (Oxf). 2016 Jul;85(1):15-6. doi: 10.1111/cen.13070. Epub 2016 Apr 20. Clin Endocrinol (Oxf). 2016. PMID: 27028121 No abstract available.
Adrenal insufficiency - recognition and management.
Pazderska A, Pearce SH. Pazderska A, et al. Among authors: pearce sh. Clin Med (Lond). 2017 Jun;17(3):258-262. doi: 10.7861/clinmedicine.17-3-258. Clin Med (Lond). 2017. PMID: 28572228 Free PMC article. Review.
213 results