|1|Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. (27720922)
De Filippo E.... Manga P.
|2|Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. (27690000)
Chen T.... Dong C.
|3|Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. (26778432)
Sun L.... Cao C.
|4|A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient. (26547501)
Pan Q.... Wang Y.
|5|The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii. (24117106)
Hiroshima Y.... Goshima Y.
|6|Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. (21348135)
Ohtsubo M.... Hotta Y.
|7|Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. (20649618)
Martinez-Garcia M.... Trujillo-Tiebas M.J.
|8|Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. (20006830)
Kubal A.... Goldberg M.
|9|The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. (18697795)
Palmisano I.... Schiaffino M.V.
|10|Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. (18811587)
|11|Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. (18669422)
Teitel A.D.... Rubin J.
|12|Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960)
Mayeur H.... Abitbol M.
|13|Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205)
Sallmann G.B.... Carden S.M.
|14|Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. (16154128)
Staleva L.... Orlow S.J.
|15|Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. (16799067)
Hoffmann M.B.... Seufert P.S.
|16|Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. (16023414)
Surace E.M.... Auricchio A.
|17|The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)
Vetrini F.... Marigo V.
|18|New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. (11793467)
|19|Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. (12180081)
Hegde M.... Richards C.S.
|20|Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
Hill V.... Hardman-Lea S.
|21|Ocular albinism: evidence for a defect in an intracellular signal transduction system. (10471510)
Schiaffino M.V.... Ballabio A.
|22|Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. (9640203)
Tijmes N.T.... de Jong P.T.
|23|A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). (8069311)
Bassi M.T.... Ballabio A.
|24|X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. (8288253)
Winship I.M.... Ramesar R.S.
|25|Refinement of the localization of the X-linked ocular albinism gene. (8486373)
Bergen A.A.... van Ommen G.J.
|26|Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. (8486368)
Charles S.J.... Yates J.R.
|27|Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. (8230160)
Meindl A.... Meitinger T.
|28|Genetic mapping of X linked ocular albinism: linkage analysis in British families. (1355560)
Charles S.J.... Yates J.R.
|29|Linkage analysis in X-linked ocular albinism. (1674724)
Schnur R.E.... Musarella M.A.
|30|Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. (2159212)
Pillers D.A.... Buist N.R.
|31|Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. (2280973)
Bergen A.A.... Bleeker-Wagemakers E.M.
|32|Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. (2923159)
Maguire A.M.... Maumenee I.H.
|33|Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. (3785879)
Hayakawa M.... Ogawa H.
|34|Macromelanosomes in X-linked ocular albinism (XLOA). (2578709)
Yoshiike T.... Ogawa H.
|35|Optic and otic neurologic abnormalities in oculocutaneous and ocular albinism. (6756499)
Witkop C.J.... Guillery R.W.
|36|X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
Cortin P.... Lemagne J.M.
|37|Inversion of direction-selectivity to anterior fields in neurons of nucleus of the optic tract in rabbits with ocular albinism. (7272756)
Winterson B.J.... Collewijn H.
|38|Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. (7398111)
O'Donnell F.E.... Eriksson A.W.
|39|Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. (546241)
|40|Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. (687204)
O'Donnell F.E.... Witkop C.J.
|41|Nystagmus in a female carrier of ocular albinism. (5025477)
Pearce W.G.... Gillan J.G.
|42|Ocular albinism in a female. (5032699)
|43|Ocular albinism in Newfoundland. (5125647)
Johnson G.J.... Pearce W.G.
|44|Measurable linkage between ocular albinism and Xg. (6019304)
Fialkow P.J.... MOTULSKY A.G.
|45|Ocular albinism. Incidence and occupational prognosis. (5952954)
|46|OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY. (14213931)
|47|CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. (14060100)
GILLESPIE F.D.... COVELLI B.
|48|Ocular albinism with report of a family with female carriers. (13898629)
|49|Ocular albinism with changes typical of carriers. (13396158)
|50|X-chromosomal ocular albinism in a Dutch family. (13373175)
VAN DEN BOSCH J.... WAARDENBURG P.J.