- ►nih.gov F Simonelli, G Cennamo, C Ziviello, F Testa, G … - British Journal of Ophthalmology, 2003 - bjo.bmj.com Results: Six different XLRS1 mutations were identified; two of these mutations
Ile81Asn and the Trp122Cys, have not been previously described. The affected
males showed an electronegative response to the standard white scotopic ... Cited by 14 - Related articles - BL Direct - All 8 versions
K Shinoda, S Ishida, Y Oguchi, Y Mashima - Ophthalmic Genetics, 2000 - Informa Pharma Science Correspondence and reprint requests to: Kei Shinoda, MD Department of
Ophthalmology Keio University School of Medicine 35 Shinanomachi, Shinjuku-ku
Tokyo 160-8582 Japan Tel: (+81) 3-3353-1211 ext. 2402 Fax: (+81) ... Cited by 12 - Related articles - BL Direct - All 5 versions
LC Eksandh, V Ponjavic, R Ayyagari, EL … - Archives of ophthalmology, 2000 - archopht.highwire.org You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Add to CiteULike Add to ... Cited by 44 - Related articles - BL Direct - All 7 versions
- ►bmj.com D Pimenides, NDL George, JRW Yates, K … - British Medical Journal, 2005 - jmg.bmj.com Background: Inactivating mutations of the gene RS1 lead to X-linked
retinoschisis, a progressive retinal dystrophy characterised by schisis within
the inner layers of the neuroretina. The mutation spectrum is large and the ... Cited by 22 - Related articles - All 7 versions
T Hayashi, S Omoto, T Takeuchi, K Kozaki, Y … - American journal of ophthalmology, 2004 - Elsevier The four affected patients showed cystoid- or wheel-like foveal changes with a
little or no fluorescein leakage and negative b-wave patterns in both eyes. The
OCT images of foveal retinoschisis disclosed that splitting occurs in the ... Cited by 12 - Related articles - All 6 versions
Y Mashima, K Shinoda, S Ishida, Y Ozawa, J … - Human mutation, 1999 - ncbi.nlm.nih.gov The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked
recessive retinoschisis (RS) which is characterized by splitting of the
superficial layer of the retina. Recent mutation analysis of this gene ... Cited by 7 - Related articles - All 2 versions
M Nakamura, S Ito, H Terasaki, Y Miyake - Archives of ophthalmology, 2001 - Am Med Assoc When the patient in case 1 was first seen at age 36 years in 1986,
ophthalmoscopic examination revealed a bull's-eye maculopathy in both eyes, and
his uncorrectable visual acuity was 20/100 OU. 3 In 2000, the chorioretinal ... Cited by 15 - Related articles - BL Direct - All 5 versions
WWH Wu, RS Molday - Journal of Biological Chemistry, 2003 - ASBMB Retinoschisin is a 24-kDa discoidin domain-containing protein that is secreted
from photoreceptor and bipolar cells as a large disulfide-linked multisubunit
complex. It functions as a cell adhesion protein to maintain the cellular ... Cited by 42 - Related articles - BL Direct - All 7 versions
L Huopaniemi, A Rantala, H Forsius, M Somer, … - European journal of human genetics: EJHG, 1999 - ncbi.nlm.nih.gov X-linked juvenile retinoschisis (RS) is a recessively inherited disorder causing
progressive vitreoretinal degeneration in males. The gene defective in
retinoschisis, XLRS1, has recently been identified and characterised. This ... Cited by 30 - Related articles - BL Direct - All 4 versions
- ►bmj.com [PDF] SA Kabanarou, GE Holder, AC Bird, AR … - British Medical Journal, 2003 - bjo.bmj.com Long term survival of patient with invasive aspergillosis involving orbit,
paranasal sinus, and central nervous system Aspergillus infections of the
paranasal sinuses are classified as invasive or non-invasive. 1 The vast ... Cited by 5 - Related articles - All 7 versions
