N K Ragge
Affiliation: University of Oxford
- MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomaliesAlexander W Wyatt
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
Mol Vis 15:1445-8. 2009..We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost...
- A practical guide to the management of anophthalmia and microphthalmiaN K Ragge
Department of Ophthalmology, Moorfields Eye Hospital, London, UK
Eye (Lond) 21:1290-300. 2007..A coordinated approach with paediatrics is necessary to manage any associated conditions. Genetic diagnosis and investigations can greatly assist in providing a diagnosis and informed genetic counselling...
- Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formationN K Ragge
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
Br J Ophthalmol 89:988-91. 2005..To identify a gene linking microphthalmia with cyst with early onset medulloblastoma...
- The management of orbital cysts associated with congenital microphthalmos and anophthalmosC J McLean
Moorfields Eye Hospital, City Road, London, UK
Br J Ophthalmol 87:860-3. 2003..To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos...
- SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania
Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford, OX1 3QX, United Kingdom
Br J Ophthalmol 91:1471-6. 2007....
- Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomasJ Sainz
Neurogenetics Laboratory, Cedars Sinai Medical Center, University of California, Los Angeles 90048
Hum Mol Genet 3:885-91. 1994..These data indicate that loss of NF2 protein function is a necessary step in schwannoma pathogenesis and that the NF2 gene functions as a recessive tumor suppressor gene...