|1|Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. (23882993)
RodrA-guez-Agramonte F.... Cadilla C.
|2|A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. (24301936)
Cai C.Y.... Li W.D.
|3|Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. (20806075)
Renugadevi K.... Sundaresan P.
|4|Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. (19938076)
Chiang P.W.... McGregor T.L.
|5|The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. (19717472)
Giordano F.... Raposo G.
|6|Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. (20006830)
Kubal A.... Goldberg M.
|7|Identification of a novel mutation in a Chinese family with X-linked ocular albinism. (19123159)
Wang Y.... Lian S.
|8|New mutations identified in the ocular albinism type 1 gene. (17822861)
Roma C.... Zollo M.
|9|The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. (17651735)
Rymer J.... Wildsoet C.F.
|10|The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. (17920058)
Sone M.... Orlow S.J.
|11|Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960)
Mayeur H.... Abitbol M.
|12|Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. (16154128)
Staleva L.... Orlow S.J.
|13|The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (16303920)
Cortese K.... Marigo V.
|14|The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. (16029416)
Schiaffino M.V.... Tacchetti C.
|15|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.
|16|Ocular albinism with sensorineural deafness. (15090016)
Tak W.J.... Seo S.J.
|17|Mutational analysis of the OA1 gene in ocular albinism. (12868035)
Camand O.... Abitbol M.
|18|Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)
Iwata F.... Kaiser-Kupfer M.I.
|19|Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (11092754)
Incerti B.... Ballabio A.
|20|Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. (10503922)
Thompson D.A.... Taylor D.
|21|Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. (9848314)
Burns W.N.... Lewis R.A.
|22|Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. (9129743)
Rebbeck T.R.... Rogatko A.
|23|Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) (9457748)
Lam B.L.... Stone E.M.
|24|Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. (8889556)
Bassi M.T.... Ballabio A.
|25|The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (8799153)
Schiaffino M.V.... Ballabio A.
|26|Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
Bassi M.T.... Ballabio A.
|27|X linked ocular albinism in Japanese patients. (7696233)
Shiono T.... Tamai M.
|28|Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318)
Lee S.T.... Spritz R.A.
|29|Ocular albinism with unilateral sectorial pigmentation in the fundus. (8025080)
Shiono T.... Tamai M.
|30|Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. (8025067)
Abadi R.V.... Pascal E.
|31|The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (8364577)
Wapenaar M.C.... Zoghbi H.Y.
|32|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.
|33|Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. (8301646)
Zhang Y.... Yates J.R.
|34|Clinical features of affected males with X linked ocular albinism. (8494858)
Charles S.J.... Moore A.T.
|35|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.
|36|Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. (3785879)
Hayakawa M.... Ogawa H.
|37|Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. (6544763)
|38|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.
|39|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.
|40|X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. (666626)
O'Donnell F.E.... HAMBRICK G.W.
|41|X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (1085370)
Pearce W.G.... Sanger R.
|42|Partial ocular albinism in Mystromys albicaudatus (the African white-tailed rat). An electron microscopic study. (5015224)
Rodrigues M.... Streett R.P.
|43|Ocular albinism in a female. (5032699)
Hoefnagel D.... Walker M.
|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|On recognizability of latent conductors of universal albinism and of ocular albinism. (18910132)