Eye Diseases

Contributing journals to this collection:
BMJ, , Molecular Pathology, Journal of Clinical Pathology, British Journal of Ophthalmology, Tobacco Control, Postgraduate Medical Journal, Injury Prevention, Practical Neurology, Heart, BMJ Case Reports, Annals of the Rheumatic Diseases, Drug and Therapeutics Bulletin, Evidence-Based Medicine, Journal of Epidemiology and Community Health, Journal of Neurology, Neurosurgery, and Psychiatry, Journal of Medical Genetics, Journal of NeuroInterventional Surgery, Journal of Medical Ethics, Quality and Safety in Health Care, Emergency Medicine Journal, Evidence-Based Mental Health, EULAR Meeting Abstracts, Gut, Medical Humanities, Thorax, Occupational and Environmental Medicine, Heart Asia, Evidence-Based Nursing, British Journal of Sports Medicine, and Sexually Transmitted Infections

Citations 1-10 of 297 total displayed.

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, and H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, and M G Hanna
J. Med. Genet. 2009 46: 786 -791; published online before print as 10.1136/jmg.2009.067967 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, and F Hildebrandt
J. Med. Genet. 2009 46: 663 -670; published online before print as 10.1136/jmg.2009.066613 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Diagnosis of conjunctivitis in primary care: comparison of two different culture procedures

E Tellegen, G ter Riet, J H Sloos, and H C P M van Weert
J. Clin. Pathol. 2009 62: 939 -941; published online before print as 10.1136/jcp.2009.064444 [Abstract] [Full text] [PDF] [Request Permissions]  

Best Evidence Topic reports
BET 3 IS THE WHITE CELL COUNT OF THE JOINT ASPIRATE SUFFICIENTLY SENSITIVE/SPECIFIC TO RULE IN/OUT SEPTIC ARTHRITIS?

Emerg. Med. J. 2009; 26: 435-a-437-a. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss

P J Francis, S C Hamon, J Ott, R G Weleber, and M L Klein
J. Med. Genet. 2009 46: 300 -307; published online before print as 10.1136/jmg.2008.062737 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Short report
Germline mutation in DOK7 associated with fetal akinesia deformation sequence

J Vogt, N V Morgan, T Marton, S Maxwell, B J Harrison, D Beeson, and E R Maher
J. Med. Genet. 2009 46: 338 -340; published online before print as 10.1136/jmg.2008.065425 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Oculovagal reflex in paediatric orbital floor fractures mimicking head injury

A Cobb, R Murthy, M Manisali, J Uddin, and A Toma
Emerg. Med. J. 2009; 26: 351-353. [Abstract] [Full text] [PDF] [Request Permissions]  

Emergency casebooks
A headache not to be sneezed at

D Garry and A Forrest-Hay
Emerg. Med. J. 2009; 26: 384-385. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family

N Hilgert, K Kahrizi, N Dieltjens, N Bazazzadegan, H Najmabadi, R J H Smith, and G Van Camp
J. Med. Genet. 2009; 46: 272-276. [Abstract] [Full text] [PDF] [Request Permissions]