- ►nih.gov [PDF] M Preising, JPO de Laak, B Lorenz - British Journal of Ophthalmology, 2001 - bjo.bmj.com METHODS A three generation family with congenital nystagmus following X linked
inheritance, and associated with macular hypoplasia was clinically examined
(three males and two obligate carriers). Flash VEP was performed to look ... Cited by 17 - Related articles - BL Direct - All 8 versions
H Mayeur, O Roche, C Vêtu, C Jaliffa, D … - BMC Medical Genetics, 2006 - biomedcentral.com We sequenced the nine exons of the OA1 gene in 72 individuals and found ten
different mutations in seven unrelated families and three sporadic cases. The
ten mutations include an amino acid substitution and a premature stop codon ... Cited by 7 - Related articles - Cached - All 16 versions
V Faugère, S Tuffery-Giraud, C Hamel, M … - BMC genetics, 2003 - biomedcentral.com X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which
encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects
pigment production in the eye, resulting in optic changes associated with ... Cited by 9 - Related articles - Cached - All 9 versions
JY Liu, X Ren, X Yang, T Guo, Q Yao, L Li, X … - Journal of human genetics, 2007 - Springer Abstract Congenital nystagmus is characterized by involuntary, rhythmical,
repeated oscillations of one or both eyes. We studied a large Chinese family
with nys- tagmus as a prominent and consistent manifestation phe- notype in ... Cited by 3 - Related articles - BL Direct - All 5 versions
O Camand, S Boutboul, L Gat, L Arbogast, O … - Ophthalmic genetics, 2003 - informahealthcare.com Abstract Ocular albinism type 1 (OA1) is an X-linked disorder, mainly
characterized by a severe reduction in visual acuity, foveal hypoplasia,
nystagmus, hypopigmentation of the retina, the presence of macromelanosomes ... Cited by 7 - Related articles - BL Direct - All 5 versions
M Bassi, A Bergen, P Bitoun, S Charles, M … - Human genetics, 2001 - Springer Abstract Ocular albinism type 1 (OA1) is an X-linked disorder mainly
characterized by congenital nystagmus and photodysphoria, moderate to severe
reduction of visual acuity, hypopigmentation of the retina, and the ... Cited by 15 - Related articles - BL Direct - All 6 versions
BL Lam, JH Fingert, BC Shutt, EM Singleton, … - Ophthalmic Genetics, 1997 - informahealthcare.com Bascom Palmer Eye Institute, University of Miami, Miami, Florida; Depart- ments
of *Ophthalmology and 'Pediatrics. University of Iowa, Iowa City, Iowa; 3The
Jones Eye Institute, University of Arkansas for Medical Sciences, Little ... Cited by 8 - Related articles - BL Direct - All 4 versions
- ►oxfordjournals.org M d'Addio, A Pizzigoni, MT Bassi, C … - Human molecular genetics, 2000 - Oxford Univ Press Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a
severe reduction of visual acuity, hypopigmentation of the retina and the
presence of macromelanosomes in the skin and eyes. Various types of ... Cited by 35 - Related articles - BL Direct - All 6 versions
WS Oetting - Human mutation, 2002 - interscience.wiley.com Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects
pigment production in the eye, resulting in hypopigmentation of the retina,
nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic ... Cited by 19 - Related articles - BL Direct - All 5 versions
P Zhou, Z Wang, J Zhang, L Hu, X Kong - Molecular Vision, 2008 - pubmedcentral.nih.gov Genomic DNA was prepared from peripheral blood, and linkage analysis was
performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic
software to manage pedigree and haplotype data and used MLINK to calculate ... Cited by 1 - Related articles - All 5 versions
