| 1 | Identification of a novel deletion in the OA1 gene: r eport of the first Spanish family with X-linked ocular albinism. (20649618) | Martinez-Garcia M.... Trujillo-Tiebas M.J. | 2010 | GPR143 |
| 2 | Ocular albinism with absent foveal pits but without n ystagmus, photophobia, or severely reduced vision. (20006830) | Kubal A.... Goldberg M. | 2009 | TYR |
| 3 | Identification of a novel mutation in a Chinese family with X-linked ocular albinism. (19123159) | Wang Y.... Lian S. | 2009 | GPR143 |
| 4 | Evidence suggesting digenic inheritance of Waardenbur g syndrome type II with ocular albinism. (19938076) | Chiang P.W.... McGregor T.L. | 2009 | MITF |
| 5 | The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. (19208379) | Oetting W.S.... King R.A. | 2009 | TYR |
| 6 | The ocular albinism type 1 (OA1) G-protein-coupled re ceptor functions with MART-1 at early stages of melanogenesis to control melano some identity and composition. (19717472) | Giordano F.... Raposo G. | 2009 | MLANA, GPR143, GPRC6A |
| 7 | GPR143 mutational analysis in two Italian families wi th X-linked ocular albinism. (19604113) | Micale L.... Merla G. | 2009 | RECK, GPR143 |
| 8 | Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. (18978956) | Fang S.... Zhang Q. | 2008 | GPR143 |
| 9 | A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. (18326704) | Hutton S.M.... Spritz R.A. | 2008 | TYR, TYRP1, OCA2 |
| 10 | Retinal function in X-linked ocular albinism (OA1). (18798082) | Nusinowitz S.... Sarraf D. | 2008 | GPR143 |
| 11 | Identification of two novel mutations in families with X-linked ocular albinism. (17960122) | Iannaccone A.... Sidjanin D.J. | 2007 | GPR143 |
| 12 | New mutations identified in the ocular albinism type 1 gene. (17822861) | Roma C.... Zollo M. | 2007 | GPR143 |
| 13 | The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. (17920058) | Sone M.... Orlow S.J. | 2007 | LPAR3, GPR143 |
| 14 | Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960) | Mayeur H.... Abitbol M. | 2006 | GPR143 |
| 15 | Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205) | Sallmann G.B.... Carden S.M. | 2006 | GPR143 |
| 16 | Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. (16550551) | Vetrini F.... Marigo V. | 2006 | GPR143 |
| 17 | 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. | 2005 | GPR143 |
| 18 | Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556) | Hou J.W. | 2005 | GPR143 |
| 19 | 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. | 2005 | GPR143 |
| 20 | 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. | 2004 | MITF |
| 21 | Mutational analysis of the OA1 gene in ocular albinism. (12868035) | Camand O.... Abitbol M. | 2003 | GPR143 |
| 22 | New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. (11793467) | Oetting W.S. | 2002 | GPR143 |
| 23 | Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. (11214907) | Bassi M.T.... Schiaffino M.V. | 2001 | GPR143 |
| 24 | Ocular albinism type 1: more than meets the eye. (11549106) | Shen B.... Orlow S.J. | 2001 | GPR143 |
| 25 | X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. (11405065) | Rudolph G.... Meitinger T. | 2001 | GPR143 |
| 26 | The mouse ocular albinism 1 gene product is an endolysosomal protein. (11180981) | Samaraweera P.... Orlow S.J. | 2001 | GPR143 |
| 27 | Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (11115845) | D'Addio M.... Schiaffino M.V. | 2000 | GPR143 |
| 28 | Ocular albinism: evidence for a defect in an intracellular signal transduction system. (10471510) | Schiaffino M.V.... Ballabio A. | 1999 | GNAI1, RECK, SUCLG2 |
| 29 | 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. | 1998 | GPR143 |
| 30 | X-linked ocular albinism: prevalence and mutations -- a national study. (9887374) | Rosenberg T.... Schwartz M. | 1998 | GPR143 |
| 31 | OA1 mutations and deletions in X-linked ocular albinism. (9529334) | Schnur R.E.... Weleber R.G. | 1998 | GPR143 |
| 32 | Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). (9158138) | Morell R.... Asher J.H. Jr. | 1997 | TYR, MITF |
| 33 | Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. (9332664) | Carrozzo R.... Zuffardi O. | 1997 | PLP1 |
| 34 | 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. | 1996 | GPR143 |
| 35 | Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. (8921399) | Newton J.M.... Barsh G.S. | 1996 | GPR143 |
| 36 | The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (8799153) | Schiaffino M.V.... Ballabio A. | 1996 | RECK, GPR143 |
| 37 | Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705) | Schiaffino M.V.... Ballabio A. | 1995 | GPR143 |
| 38 | Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). (7759088) | Schnur R.E.... Wick P.A. | 1995 | CLCN4 |
| 39 | Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. (7795590) | Schiaffino V.M.... Ballabio A. | 1995 | GPR143, SHROOM2, ASIC5 |
| 40 | Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. (7704033) | Fukai K.... Spritz R.A. | 1995 | TYR |
| 41 | Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318) | Lee S.T.... Spritz R.A. | 1994 | TYR, OCA2 |
| 42 | 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. | 1993 | GPR143 |
| 43 | Ocular Albinism, X-Linked (20301517) | Lewis R.A. | 1993 | GPR143 |
| 44 | 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. | 1993 | HCCS, MLS |
| 45 | Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? (1632442) | Rose N.C.... Zackai E.H. | 1992 | OA3 |
| 46 | Linkage analysis in X-linked ocular albinism. (1674724) | Schnur R.E.... Musarella M.A. | 1991 | STS |
| 47 | 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. | 1990 | GK, OED |
| 48 | 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. | 1990 | GPR143 |
| 49 | An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. (2573275) | Schnur R.E.... Nussbaum R.L. | 1989 | GPR143 |
| 50 | Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. (666627) | Bard L.A. | 1978 | TYR, MITF |
