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Items: 1 to 20 of 360

1.

Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report.

Gangwe AB, Parchand SM, Azad RV, Agrawal D, Bhatia P.

Indian J Ophthalmol. 2019 Jun;67(6):962-964. doi: 10.4103/ijo.IJO_768_18.

2.

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography.

Montoya Delgado MJ, Astiazarán MC, Casanova Imken F, Ramírez Estudillo A, Hernández Vázquez Á.

Arch Soc Esp Oftalmol. 2019 Jun;94(6):288-292. doi: 10.1016/j.oftal.2019.01.006. Epub 2019 May 15. English, Spanish.

PMID:
31103373
3.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Michaud V, Defoort-Dhellemmes S, Drumare I, Pennamen P, Plaisant C, Lasseaux E, Arveiler B.

Ophthalmic Genet. 2019 Apr;40(2):161-164. doi: 10.1080/13816810.2019.1592201. Epub 2019 Apr 3.

PMID:
30942644
4.

The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.

Ohishi Y, Kinoshita R, Marubashi S, Ishida M, Fukuda M.

J Biol Chem. 2019 Apr 26;294(17):6912-6922. doi: 10.1074/jbc.RA119.007345. Epub 2019 Mar 5.

PMID:
30837268
5.

Ocular albinism with bilateral ocular coloboma - A rare association.

Raval V, Rao S, Das T.

Indian J Ophthalmol. 2019 Mar;67(3):397-398. doi: 10.4103/ijo.IJO_1182_18. No abstract available.

6.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K, Jespersgaard C, Bruun GH, Harris P, Brøndum-Nielsen K, Andresen BS, Rosenberg T.

Sci Rep. 2019 Jan 24;9(1):645. doi: 10.1038/s41598-018-37272-5.

7.

[Advances in research of synergistic divergence].

Chen LP, Hao R, Zhang W.

Zhonghua Yan Ke Za Zhi. 2019 Jan 11;55(1):63-67. doi: 10.3760/cma.j.issn.0412-4081.2019.01.015. Chinese.

PMID:
30641676
8.

Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies.

Goshima Y, Watanabe S, Seki E, Koga M, Masukawa D, Nakamura F, Komori T, Arai N.

Neurosci Res. 2018 Dec 24. pii: S0168-0102(18)30598-4. doi: 10.1016/j.neures.2018.12.004. [Epub ahead of print]

PMID:
30590075
9.

X-linked Ocular Albinism.

Tsang SH, Sharma T.

Adv Exp Med Biol. 2018;1085:49-52. doi: 10.1007/978-3-319-95046-4_11.

PMID:
30578484
10.

Hypopigmented fundus in a young male.

Shaikh NF, Kumar V.

Indian J Ophthalmol. 2019 Jan;67(1):7. doi: 10.4103/ijo.IJO_1834_18. No abstract available.

11.

Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

Jung JH, Oh EH, Shin JH, Kim HS, Choi SY, Choi KD, Lee C, Choi JH.

J Genet. 2018 Dec;97(5):1479-1484.

12.

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.

Baulier E, Garcia Diaz A, Corneo B, Farber DB.

Stem Cell Res. 2018 Dec;33:274-277. doi: 10.1016/j.scr.2018.11.016. Epub 2018 Nov 28.

13.

Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.

Wei A, Yuan Y, Qi Z, Liu T, Bai D, Zhang Y, Yu J, Yang L, Yang X, Li W.

Pigment Cell Melanoma Res. 2019 May;32(3):373-380. doi: 10.1111/pcmr.12748. Epub 2018 Nov 22.

PMID:
30387913
14.

Ocular albinism with infertility and late-onset sensorineural hearing loss.

Fabian-Jessing BK, Vestergaard EM, Plomp AS, Bergen AA, Dreschler WA, Duno M, Winiarska BS, Neumann L, Gaihede M, Vorum H, Petersen MB.

Am J Med Genet A. 2018 Jul;176(7):1587-1593. doi: 10.1002/ajmg.a.38836.

PMID:
30160833
15.

Albinism.

Federico JR, Krishnamurthy K.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-.
2018 Dec 21.

16.

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) of Macular Pigment.

Sauer L, Andersen KM, Li B, Gensure RH, Hammer M, Bernstein PS.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3094-3103. doi: 10.1167/iovs.18-23886.

17.

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Paavo M, Zhao J, Kim HJ, Lee W, Zernant J, Cai C, Allikmets R, Tsang SH, Sparrow JR.

Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2459-2469. doi: 10.1167/iovs.18-24213.

18.

Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots.

White EC, Sengillo JD, Cho GY, Bakhoum MF, Tsang SH.

Doc Ophthalmol. 2018 Aug;137(1):9-14. doi: 10.1007/s10633-018-9639-9. Epub 2018 May 16.

PMID:
29770905
19.

Pigmentation and vision: Is GPR143 in control?

McKay BS.

J Neurosci Res. 2019 Jan;97(1):77-87. doi: 10.1002/jnr.24246. Epub 2018 May 14. Review.

PMID:
29761529
20.

Cutaneous Cancers in Nigerian Albinos: A Review of 22 Cases.

Awe OO, Azeke TA.

Niger J Surg. 2018 Jan-Jun;24(1):34-38. doi: 10.4103/njs.NJS_23_17.

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