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Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
J Med Genet. 1996 Aug;33(8):665-71. doi: 10.1136/jmg.33.8.665.
J Med Genet. 1996.
PMID: 8863159
Free PMC article.
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D.
Muhn F, et al.
Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.
Clin Genet. 2013.
PMID: 23425300
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Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).
Colley AF, Leversha MA, Voullaire LE, Rogers JG.
Colley AF, et al.
J Paediatr Child Health. 1990 Feb;26(1):17-21. doi: 10.1111/j.1440-1754.1990.tb02372.x.
J Paediatr Child Health. 1990.
PMID: 2331413
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Population screening for fragile X.
Turner G, Robinson H, Laing S, van den Berk M, Colley A, Goddard A, Sherman S, Partington M.
Turner G, et al.
Lancet. 1992 May 16;339(8803):1210-3. doi: 10.1016/0140-6736(92)91142-u.
Lancet. 1992.
PMID: 1349946
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Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation?
Hardy TA, Young S, Sy JS, Colley AF, Terwindt GM, Ferrari MD, Hayes MW, Hodgkinson S.
Hardy TA, et al. Among authors: colley af.
J Neurol Neurosurg Psychiatry. 2017 Aug 9:jnnp-2017-316142. doi: 10.1136/jnnp-2017-316142. Online ahead of print.
J Neurol Neurosurg Psychiatry. 2017.
PMID: 28794152
No abstract available.
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