| 1 | GPR143, OA1
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| Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
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| Xiao X, Zhang Q.
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| Am J Med Genet A 149A(8):1786-8.PMID: 19610097 2009
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| 2 | GPR143, OA1
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| Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
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| Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S.
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| Eur J Ophthalmol 19(1):124-8.PMID: 19123159 2009
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| 3 | OA1
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| Retinal function in X-linked ocular albinism (OA1).
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| Nusinowitz S, Sarraf D.
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| Curr Eye Res 33(9):789-803.PMID: 18798082 2008
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| 4 | DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
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| Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.
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| Am J Med Genet A 143(2):135-41. 2007
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| 5 | GPR143, OA1
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| New mutations identified in the ocular albinism type 1 gene.
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| Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M.
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| Gene 402(1-2):20-7. Epub 2007 Aug 1. 2007
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| 6 | OA1, GPR143
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| The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.
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| Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V.
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| Invest Ophthalmol Vis Sci 46(12):4358-64. 2005
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| 7 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
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| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
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| Am J Med Genet 94(2):163-9. 2000
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| 8 | LYST, HPS1, OCA1, OCA2, OCA3, OA1, CHS1
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| Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism.
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| Oetting WS, et al.
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| Hum Mutat 13 : 99-115. 1999
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| 9 | GPR143,OA1
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| OA1 mutations and deletions in X-linked ocular albinism.
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| Schnur RE, et al.
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| Am J Hum Genet 62 : 800-809. 1998
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| 10 | GPR143,OA1
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| Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene : sequence, genomic structure, and expression analysis in pigment cells.
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| Bassi MT, et al.
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| Genome Res 6 : 880-885. 1996
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| 11 | GPR143,OA1
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| Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
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| Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al.
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| Hum Mol Genet 4 : 2319-2325. 1995
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| 12 | CLCN4, MLS, OA1
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| 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).
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| Schnur RE, et al.
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| Hum Genet 95 : 594-595. 1995
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| 13 | GPR143,OA1
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| A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
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| Bassi MT, et al.
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| Hum Mol Genet 3 : 647-648. 1994
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| 14 | GPR143,OA1
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| Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes.
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| Schnur RE, et al.
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| Am J Hum Genet 55 : 484-496. 1994
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| 15 | KAL1, OA1
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| Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
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| Zhang Y, et al.
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| J Med Genet 30 : 923-925. 1993
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| 16 | GPR143,OA1
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| Refinement of the localization of the X-linked ocular albinism gene.
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| Bergen AAB, et al.
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| Genomics 16 : 272-273. 1993
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| 17 | GPR143,OA1
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| Genetic mapping of X-linked ocular albinism : linkage analysis in a large newfoundland kindred.
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| Charles SJ, et al.
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| Genomics 16 : 259-261. 1993
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| 18 | GPR143,OA1
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| Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.
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| Bouloux PMG, et al.
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| Clin Genet 43 : 169-173. 1993
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| 19 | GPR143,OA1
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| Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders : implications for the mapping of X linked ocular albinism.
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| Meindl A, et al.
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| J Med Genet 30 : 838-842. 1993
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| 20 | GPR143,OA1
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| Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
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| Bergen AAB, et al.
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| Clin Genet 41 : 135-138. 1992
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| 21 | GPR143,OA1
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| Ocular albinism in a large Newfoundland kinship : clinical update and genetic linkage analysis.
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| Luscombe SJ, et al.
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| Am J Hum Genet 51 : A101. 1992
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| 22 | GPR143,OA1
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| Genetic linkage analysis in X-linked albinism.
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| Bergen AA, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2058. 1991
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| 23 | GPR143,OA1
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| Linkage analysis of X-linked ocular albinism (OA1).
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| Zhu D, et al.
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| Am J Hum Genet 49S : 364. 1991
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| 24 | GPR143,OA1
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| Linkage analysis in X-linked ocular albinism.
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| Schnur RE, et al.
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| Genomics 9 : 605-613. 1991
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| 25 | GPR143,OA1
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| Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
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| Bergen AAB, et al.
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| Ophthalmic Paediatr Genet 2 : 165-170. 1990
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| 26 | DXS278,OA1,SSDI,STS
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| Partial deletions of a sequence family (DXS278) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
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| Schnur RE, et al.
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| Genomics 8 : 255-262. 1990
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| 27 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 28 | SSDI, OA1, STS
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| 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.
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| Schnur RE, et al.
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| Am J Hum Genet 45 : 706-720. 1989
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| 29 | GPR143,OA1
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| Genetic analysis in X-linked ocular albinism.
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| de Martinville B, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 605. 1987
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| 30 | GPR143,OA1
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| Clinical findings and linkage analysis in X-linked ocular albinism.
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| Graham JM, et al.
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| Am J Hum Genet 41 : A64. 1987
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