Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1992 1
1993 1
1994 1
1995 1
2001 1
2002 1
2003 1
2005 1
2007 2
2008 1
2010 2
2011 1
2013 2
2017 1
2019 1
2020 2
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Page 1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CSNB), OP …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. ...Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analys …
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in p …
[Oculocutaneous and ocular albinism].
Kubasch AS, Meurer M. Kubasch AS, et al. Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x. Hautarzt. 2017. PMID: 29018889 Review. German.
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). ...Treatment priorities are a consistent protection from UV light for prophylaxis against skin cancer and regular preventive investigations. The ocular alterati …
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). ...Treatment priorities are …
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS. Oetting WS. Hum Mutat. 2002 Feb;19(2):85-92. doi: 10.1002/humu.10034. Hum Mutat. 2002. PMID: 11793467 Review.
Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in the eye, resulting in hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers, and red …
Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in th …
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.
Schiaffino MV, Tacchetti C. Schiaffino MV, et al. Pigment Cell Res. 2005 Aug;18(4):227-33. doi: 10.1111/j.1600-0749.2005.00240.x. Pigment Cell Res. 2005. PMID: 16029416 Review.
Ocular albinism type 1 is an X-linked disorder characterized by severe reduction of visual acuity, retinal hypopigmentation, foveal hypoplasia, optic misrouting and the presence of giant melanosomes (macromelanosomes) in skin melanocytes and retinal pigment e …
Ocular albinism type 1 is an X-linked disorder characterized by severe reduction of visual acuity, retinal hypopigmenta …
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
Ray K, Chaki M, Sengupta M. Ray K, et al. Prog Retin Eye Res. 2007 Jul;26(4):323-58. doi: 10.1016/j.preteyeres.2007.01.001. Epub 2007 Jan 17. Prog Retin Eye Res. 2007. PMID: 17355913 Review.
This membrane-bound protein, possibly evolved by the fusion of two different copper-binding proteins, is mainly expressed in epidermal, ocular and follicular melanocytes. In the melanocytes, TYR functions as an integrated unit with other TYR-related proteins (TYRP1, TYRP2) …
This membrane-bound protein, possibly evolved by the fusion of two different copper-binding proteins, is mainly expressed in epidermal, o …
Ocular albinism type 1: more than meets the eye.
Shen B, Samaraweera P, Rosenberg B, Orlow SJ. Shen B, et al. Pigment Cell Res. 2001 Aug;14(4):243-8. doi: 10.1034/j.1600-0749.2001.140403.x. Pigment Cell Res. 2001. PMID: 11549106 Review.
Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a severe reduction of visual acuity, and hypopigmentation of the retina that leads to nystagmus, strabismus, and photophobia/photodysphoria. ...
Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a severe reduction of visual acuity, an …
Genotype-phenotype associations and human eye color.
White D, Rabago-Smith M. White D, et al. J Hum Genet. 2011 Jan;56(1):5-7. doi: 10.1038/jhg.2010.126. Epub 2010 Oct 14. J Hum Genet. 2011. PMID: 20944644 Review.
Although there are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2 …
Although there are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect …
[Advances in research of synergistic divergence].
Chen LP, Hao R, Zhang W. Chen LP, et al. Zhonghua Yan Ke Za Zhi. 2019 Jan 11;55(1):63-67. doi: 10.3760/cma.j.issn.0412-4081.2019.01.015. Zhonghua Yan Ke Za Zhi. 2019. PMID: 30641676 Review. Chinese.
It is sometimes referred to as exotropic Duane syndrome with synergistic divergence (type 4 Duane syndrome) or congenital fibrosis syndrome with synergistic divergence. Diseases combined with synergistic divergence fall within the category of congenital cranial dysinnervat …
It is sometimes referred to as exotropic Duane syndrome with synergistic divergence (type 4 Duane syndrome) or congenital fibrosis sy …
Molecular genetics of oculocutaneous albinism.
Spritz RA. Spritz RA. Hum Mol Genet. 1994;3 Spec No:1469-75. doi: 10.1093/hmg/3.suppl_1.1469. Hum Mol Genet. 1994. PMID: 7849740 Review.
Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally …
Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism ( …
21 results