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

Year Number of Results
1894 1
1903 1
1908 1
1909 1
1911 1
1915 4
1921 1
1924 1
1926 1
1930 1
1931 1
1938 1
1944 1
1946 5
1947 6
1948 5
1949 4
1950 9
1951 11
1952 10
1953 6
1954 3
1955 4
1956 15
1957 9
1958 10
1959 14
1960 16
1961 17
1962 20
1963 24
1964 46
1965 34
1966 18
1967 27
1968 39
1969 48
1970 55
1971 77
1972 86
1973 77
1974 70
1975 95
1976 85
1977 71
1978 103
1979 68
1980 83
1981 81
1982 77
1983 81
1984 79
1985 86
1986 78
1987 69
1988 71
1989 80
1990 97
1991 88
1992 119
1993 113
1994 96
1995 93
1996 93
1997 84
1998 81
1999 93
2000 114
2001 108
2002 92
2003 103
2004 110
2005 125
2006 110
2007 125
2008 102
2009 138
2010 112
2011 146
2012 157
2013 185
2014 196
2015 174
2016 172
2017 167
2018 150
2019 191
2020 199
2021 187
2022 14
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5,779 results
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Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Karim S, Saharti S, Alganmi N, Mirza Z, Alfares A, Turkistany S, Al-Attas M, Noureldin H, Al Sakkaf K, Abusamra H, Al-Qahtani M, Abuzenadah A. Karim S, et al. Life (Basel). 2021 Dec 23;12(1):14. doi: 10.3390/life12010014. Life (Basel). 2021. PMID: 35054407
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. ...Although no platelet and/or lysosome storage defect was detected in the patient or family, an oculocutaneous albinism diagnosi …
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and sk …
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. Invest Ophthalmol Vis Sci. 2022. PMID: 35029636
We compared the data to that of 133 Dutch patients with the 3 most common types of albinism in the Netherlands: oculocutaneous albinism type 1 (49), type 2 (41), and ocular albinism (43). ...CONCLUSIONS: Compared to albinism, the FHONDA syndrome appear …
We compared the data to that of 133 Dutch patients with the 3 most common types of albinism in the Netherlands: oculocutaneous alb
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Lin S, et al. NPJ Genom Med. 2022 Jan 13;7(1):2. doi: 10.1038/s41525-021-00275-9. NPJ Genom Med. 2022. PMID: 35027574 Free PMC article.
Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. ...(Arg402Gln) TYR haplotype results in a very mild, but fully penetrant, albinism phenotype …
Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and ra …
In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.
George A, Sharma R, Pfister T, Abu-Asab M, Hotaling N, Bose D, DeYoung C, Chang J, Adams DR, Cogliati T, Bharti K, Brooks BP. George A, et al. Stem Cell Reports. 2022 Jan 11;17(1):173-186. doi: 10.1016/j.stemcr.2021.11.016. Stem Cell Reports. 2022. PMID: 35021041 Free PMC article.
Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, and hair. ...Here we show that RPE tissue derived in vitro from OCA patients recapitulates the pigmentation defects seen in albinism, …
Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, …
Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome.
Mencher SR, Tamborlane WV, Patel AD. Mencher SR, et al. Case Rep Pediatr. 2021 Dec 27;2021:9981306. doi: 10.1155/2021/9981306. eCollection 2021. Case Rep Pediatr. 2021. PMID: 34987878 Free PMC article.
Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for melanin transport. ...
Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for m …
Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Dhangar S, Panchal P, Ghatanatti J, Suralkar J, Shah A, Vundinti BR. Dhangar S, et al. BMC Med Genomics. 2022 Jan 3;15(1):2. doi: 10.1186/s12920-021-01152-1. BMC Med Genomics. 2022. PMID: 34980106 Free PMC article.
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. ...
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and ey …
Factors Associated with Skin Cancers in People with Albinism in Togo.
Mouhari-Toure A, Akakpo SA, Teclessou JN, Gnossike P, Adam S, Mahamadou G, Kassang P, Elegbede Y, Darre T, Kombate K, Pitché P, Saka B. Mouhari-Toure A, et al. J Skin Cancer. 2021 Dec 23;2021:3433493. doi: 10.1155/2021/3433493. eCollection 2021. J Skin Cancer. 2021. PMID: 34976411 Free PMC article.
OBJECTIVE: The aim of this study was to identify the factors associated with skin cancers in people with albinism (PWA) in Togo. METHOD: This is a retrospective analytical study of the records of PWA examined during five dermatological consultation campaigns from 2019 to 2 …
OBJECTIVE: The aim of this study was to identify the factors associated with skin cancers in people with albinism (PWA) in Togo. METH …
The effect of albinism on avian predator attack rates in eastern garter snakes.
Stephenson BP, Velani Z, Ihász N. Stephenson BP, et al. Zoology (Jena). 2022 Feb;150:125987. doi: 10.1016/j.zool.2021.125987. Epub 2021 Dec 21. Zoology (Jena). 2022. PMID: 34971911
Albinism is a conspicuous and distinctive phenotype arising from the absence of melanin in the integument that has been documented in all major vertebrate groups. With few exceptions, albinism is rare in natural populations, suggesting that it incurs significant fit
Albinism is a conspicuous and distinctive phenotype arising from the absence of melanin in the integument that has been documented in
The Effect of Daminozide, Dark/Light Schedule and Copper Sulphate in Tissue Culture of Triticum timopheevii.
Miroshnichenko D, Klementyeva A, Dolgov S. Miroshnichenko D, et al. Plants (Basel). 2021 Nov 29;10(12):2620. doi: 10.3390/plants10122620. Plants (Basel). 2021. PMID: 34961089 Free PMC article.
Gene-based biotechnologies can contribute to this field; however, T. timopheevii exhibits recalcitrance and albinism in tissue cultures, making this species of little use for manipulation through genetic engineering and genome editing. ...Media containing higher levels of …
Gene-based biotechnologies can contribute to this field; however, T. timopheevii exhibits recalcitrance and albinism in tissue cultur …
5,779 results