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
1946 1
1947 1
1950 1
1952 2
1955 1
1956 1
1957 1
1958 2
1959 1
1960 1
1961 1
1963 8
1964 18
1965 12
1966 4
1967 11
1968 16
1969 27
1970 33
1971 40
1972 51
1973 48
1974 37
1975 43
1976 27
1977 24
1978 41
1979 20
1980 32
1981 44
1982 30
1983 43
1984 30
1985 36
1986 31
1987 29
1988 29
1989 32
1990 48
1991 45
1992 50
1993 57
1994 51
1995 50
1996 43
1997 48
1998 39
1999 45
2000 62
2001 59
2002 47
2003 55
2004 66
2005 69
2006 65
2007 69
2008 50
2009 86
2010 67
2011 94
2012 83
2013 103
2014 108
2015 88
2016 105
2017 93
2018 76
2019 110
2020 110
2021 108
2022 87
2023 81
2024 41

Text availability

Article attribute

Article type

Publication date

Search Results

3,037 results

Results by year

Filters applied: . Clear all
Page 1
Current and emerging treatments for albinism.
Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG. Liu S, et al. Surv Ophthalmol. 2021 Mar-Apr;66(2):362-377. doi: 10.1016/j.survophthal.2020.10.007. Epub 2020 Oct 29. Surv Ophthalmol. 2021. PMID: 33129801 Review.
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. ...Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic mod …
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. ...Experimental gene-based strategie …
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.
At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. ...Molecular genetic testing …
At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP). Diagnosis is based on clinica …
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. Lasseaux E, et al. Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. doi: 10.1111/pcmr.12688. Epub 2018 Feb 14. Pigment Cell Melanoma Res. 2018. PMID: 29345414
The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparati …
The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we scr …
Oculocutaneous Albinism.
Ye H, Mao K, Zhao P. Ye H, et al. Asia Pac J Ophthalmol (Phila). 2023 Mar-Apr 01;12(2):268. doi: 10.1097/APO.0000000000000506. Epub 2022 Aug 18. Asia Pac J Ophthalmol (Phila). 2023. PMID: 35342184 Free article. No abstract available.
Oculocutaneous Albinism.
Bezerra Castaldelli G, Bezerra Castaldelli AJ, Anderson Castaldelli V. Bezerra Castaldelli G, et al. JAMA Ophthalmol. 2021 Dec 1;139(12):e214068. doi: 10.1001/jamaophthalmol.2021.4068. Epub 2021 Dec 15. JAMA Ophthalmol. 2021. PMID: 34910112 No abstract available.
Albinism.
Kinnear PE, Jay B, Witkop CJ Jr. Kinnear PE, et al. Surv Ophthalmol. 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3. Surv Ophthalmol. 1985. PMID: 3934778 Review.
After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. ...The visual pathway abnormalities and the clinical …
After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism …
Albinism.
King RA, Summers CG. King RA, et al. Dermatol Clin. 1988 Apr;6(2):217-28. Dermatol Clin. 1988. PMID: 3288382 Review.
Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized …
Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The r …
Albinism.
Oetting WS. Oetting WS. Curr Opin Pediatr. 1999 Dec;11(6):565-71. doi: 10.1097/00008480-199912000-00016. Curr Opin Pediatr. 1999. PMID: 10590917 Review.
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. ...Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associate …
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecula …
Albinism.
Witkop CJ Jr. Witkop CJ Jr. Clin Dermatol. 1989 Apr-Jun;7(2):80-91. doi: 10.1016/0738-081x(89)90059-x. Clin Dermatol. 1989. PMID: 2667743 Review. No abstract available.
Albinism.
Witkop CJ Jr. Witkop CJ Jr. Adv Hum Genet. 1971;2:61-142. Adv Hum Genet. 1971. PMID: 5005925 Review. No abstract available.
3,037 results