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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: nicoll a. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
The Nance-Horan syndrome.
Walpole IR, Hockey A, Nicoll A. Walpole IR, et al. Among authors: nicoll a. J Med Genet. 1990 Oct;27(10):632-4. doi: 10.1136/jmg.27.10.632. J Med Genet. 1990. PMID: 2246772 Free PMC article. No abstract available.
Orbital myositis: a study of six cases.
Hankey GJ, Silbert PL, Edis RH, Nicoll AM. Hankey GJ, et al. Among authors: nicoll am. Aust N Z J Med. 1987 Dec;17(6):585-91. doi: 10.1111/j.1445-5994.1987.tb01264.x. Aust N Z J Med. 1987. PMID: 3328976
Identifying key health system components associated with improved outcomes to inform the re-configuration of services for adults with rare autoimmune rheumatic diseases: a mixed-methods study.
Hollick RJ, James WRG, Nicoll A, Locock L, Black C, Dhaun N, Egan AC, Fluck N, Laidlaw L, Lanyon PC, Little MA, Luqmani RA, Moir L, McBain M, Basu N. Hollick RJ, et al. Among authors: nicoll a. Lancet Rheumatol. 2024 Jun;6(6):e361-e373. doi: 10.1016/S2665-9913(24)00082-1. Lancet Rheumatol. 2024. PMID: 38782514 Free article.
Surveillance MRI is associated with improved survival in patients with primary sclerosing cholangitis.
Tan N, Ngu N, Worland T, Lee T, Abrahams T, Freeman E, Hannah N, Gazelakis K, Madden RG, Lynch KD, Valaydon Z, Sood S, Dev A, Bell S, Thompson AJ, Ding JN, Nicoll AJ, Liu K, Pandya K, Gow P, Lubel J, Kemp W, Roberts SK, Majeed A. Tan N, et al. Among authors: nicoll aj. Hepatol Commun. 2024 May 2;8(5):e0442. doi: 10.1097/HC9.0000000000000442. eCollection 2024 May 1. Hepatol Commun. 2024. PMID: 38696372 Free PMC article.
452 results