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Items: 1 to 20 of 1254

1.

The phenotypic spectrum of albinism.

Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM.

Ophthalmology. 2018 Aug 8. pii: S0161-6420(18)30574-8. doi: 10.1016/j.ophtha.2018.08.003. [Epub ahead of print]

PMID:
30098354
2.

Albinism.

Federico JR, Krishnamurthy K.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.
2018 Jul 28.

3.

Visual Development During the Second Decade of Life in Albinism.

McCafferty BK, Holleschau AM, Connett JE, Summers CG.

J Pediatr Ophthalmol Strabismus. 2018 Jul 1;55(4):254-259. doi: 10.3928/01913913-20180327-02. Epub 2018 May 29.

PMID:
29809263
4.

Retinal detachment in albinism.

Mansour AM, Chhablani J, Arevalo JF, Wu L, Sharma R, Sinawat S, Sujirakul T, Assi A, Vélez-Vázquez WM, Mansour MA, Kayikcioglu O, Kucukerdonmez C, Kal A.

Clin Ophthalmol. 2018 Apr 5;12:651-656. doi: 10.2147/OPTH.S158785. eCollection 2018.

5.

Identification of TYR mutations in patients with oculocutaneous albinism.

Sun W, Shen Y, Shan S, Han L, Li Y, Zhou Z, Zhong Z, Chen J.

Mol Med Rep. 2018 Jun;17(6):8409-8413. doi: 10.3892/mmr.2018.8881. Epub 2018 Apr 13.

PMID:
29658579
6.

Neglected tumor in a female with albinism.

Filho FB, Alves AO.

Pan Afr Med J. 2017 Nov 1;28:195. doi: 10.11604/pamj.2017.28.195.14122. eCollection 2017. No abstract available.

7.
8.

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.

Qiu B, Ma T, Peng C, Zheng X, Yang J.

Genet Test Mol Biomarkers. 2018 Apr;22(4):252-258. doi: 10.1089/gtmb.2017.0211. Epub 2018 Feb 13.

PMID:
29437493
9.

Oculocutaneous albinism with iridofundal coloboma.

Saluja G, Azad SV, Pujari A, Temkar S.

BMJ Case Rep. 2018 Jan 26;2018. pii: bcr-2017-223799. doi: 10.1136/bcr-2017-223799. No abstract available.

PMID:
29374654
10.

Molecular characterization of a series of 990 index patients with albinism.

Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B.

Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. doi: 10.1111/pcmr.12688. Epub 2018 Feb 14.

PMID:
29345414
11.

Children with albinism in African regions: their rights to 'being' and 'doing'.

Franklin A, Lund P, Bradbury-Jones C, Taylor J.

BMC Int Health Hum Rights. 2018 Jan 12;18(1):2. doi: 10.1186/s12914-018-0144-8.

12.

Proteome and Acetyl-Proteome Profiling of Camellia sinensis cv. 'Anjin Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways.

Xu YX, Chen W, Ma CL, Shen SY, Zhou YY, Zhou LQ, Chen L.

Front Plant Sci. 2017 Dec 11;8:2104. doi: 10.3389/fpls.2017.02104. eCollection 2017. Erratum in: Front Plant Sci. 2018 Feb 07;9:147.

13.

Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

Felfeli T, Mandelcorn MS, Yan P, Jeffery G, Mandelcorn ED.

Ophthalmic Surg Lasers Imaging Retina. 2017 Dec 1;48(12):1016-1020. doi: 10.3928/23258160-20171130-10.

PMID:
29253306
14.

Mutational analysis of a Chinese family with oculocutaneous albinism type 2.

Wang X, Zhu Y, Shen N, Peng J, Wang C, Liu H, Lu Y.

Oncotarget. 2017 Jul 31;8(41):70345-70355. doi: 10.18632/oncotarget.19697. eCollection 2017 Sep 19.

15.

[Oculocutaneous and ocular albinism].

Kubasch AS, Meurer M.

Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x. Review. German.

PMID:
29018889
16.

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.

Rothammer S, Kunz E, Seichter D, Krebs S, Wassertheurer M, Fries R, Brem G, Medugorac I.

Genet Sel Evol. 2017 Oct 5;49(1):73. doi: 10.1186/s12711-017-0349-7.

17.

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Marti A, Lasseaux E, Ezzedine K, Léauté-Labrèze C, Boralevi F, Paya C, Coste V, Deroissart V, Arveiler B, Taieb A, Morice-Picard F.

Pigment Cell Melanoma Res. 2018 Mar;31(2):318-329. doi: 10.1111/pcmr.12651. Epub 2017 Oct 21.

PMID:
28976636
18.

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

Caduff M, Bauer A, Jagannathan V, Leeb T.

PLoS One. 2017 Oct 3;12(10):e0185944. doi: 10.1371/journal.pone.0185944. eCollection 2017.

19.

Author Response: Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism".

De Filippo E, Manga P, Schiedel AC.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4735-4736. doi: 10.1167/iovs.17-22810. No abstract available.

20.

Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism".

McKay BS, Lynch RM, Stamer WD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4733-4734. doi: 10.1167/iovs.17-22660. No abstract available.

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