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

Year Number of Results
1967 1
1968 1
1970 1
1971 1
1977 3
1978 3
1979 1
1980 2
1981 1
1982 1
1983 2
1984 3
1985 3
1986 4
1987 1
1988 2
1989 7
1990 8
1991 6
1992 4
1993 7
1994 6
1995 5
1996 7
1997 9
1998 8
1999 5
2000 9
2001 6
2002 10
2003 9
2004 4
2005 11
2006 11
2007 15
2008 9
2009 15
2010 6
2011 21
2012 12
2013 13
2014 21
2015 14
2016 12
2017 10
2018 18
2019 21
2020 18
2021 19
2022 20
2023 28
2024 12

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393 results

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Page 1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. ...Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one ide …
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. ... …
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I. Thomas MG, et al. Br J Ophthalmol. 2022 May;106(5):593-599. doi: 10.1136/bjophthalmol-2020-316348. Epub 2020 Nov 4. Br J Ophthalmol. 2022. PMID: 33148537 Review.
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without …
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albi …
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional fea …
HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome …
Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.
Galli J, Loi E, Dusi L, Pasini N, Rossi A, Scaglioni V, Mauri L, Fazzi E. Galli J, et al. Eur J Pediatr. 2023 Jun;182(6):2723-2733. doi: 10.1007/s00431-023-04938-w. Epub 2023 Apr 3. Eur J Pediatr. 2023. PMID: 37009951 Free PMC article.
Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. ...WHAT IS NEW: In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodev …
Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. ...WHAT IS NEW: In …
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Dell'Angelica EC, et al. FASEB J. 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. FASEB J. 2000. PMID: 10877819 Review.
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the close relationship between these organelles. ...
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higa …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.

All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA

…

All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a

…
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Ophthalmology. 2018 Dec;125(12):1953-1960. doi: 10.1016/j.ophtha.2018.08.003. Epub 2018 Aug 8. Ophthalmology. 2018. PMID: 30098354

The foveal hypoplasia grading correlated best with the VA (r = 0.69, P < 0.001), whereas iris translucency, fundus pigmentation, and misrouting did not predict the VA significantly. We estimated a prevalence of albinism in The Netherlands of at least 1:12 000. CO

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The foveal hypoplasia grading correlated best with the VA (r = 0.69, P < 0.001), whereas iris translucency, fundus pigmentation, and misr

…
Skin Pigmentation Genetics for the Clinic.
Ainger SA, Jagirdar K, Lee KJ, Soyer HP, Sturm RA. Ainger SA, et al. Dermatology. 2017;233(1):1-15. doi: 10.1159/000468538. Epub 2017 May 3. Dermatology. 2017. PMID: 28463841 Review.
Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily apparent for these major genes. However, predictive value and utility are increased when considering gene polymorphism interactions. ...
Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily app …
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I. Kuht HJ, et al. Br J Ophthalmol. 2023 Aug;107(8):1202-1208. doi: 10.1136/bjophthalmol-2020-318192. Epub 2022 Apr 4. Br J Ophthalmol. 2023. PMID: 35379600 Free PMC article.
BACKGROUND/AIMS: To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study. METHODS: Handheld SD-OCT (Envisu C2300) was used to acquire horizo …
BACKGROUND/AIMS: To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical cohe …
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 eye color is usually modeled as a simple, Mendelian trait, further research and observation has indicated that eye color does not follow the classical paths of inheritance. ...Although there are about 16 different genes responsible for eye color, it is mostly attr …
Although eye color is usually modeled as a simple, Mendelian trait, further research and observation has indicated that eye color doe …
393 results