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Year Number of Results
1971 1
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216 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. ...We also include a comprehensive list of almost 600 previously reported OCA mutations along with ethnicity information, carrier freque …
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and ey …
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.
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 c …
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. P …
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 …
Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. ...WHAT IS …
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 …
Mutational analysis of oculocutaneous albinism: a compact review.
Kamaraj B, Purohit R. Kamaraj B, et al. Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472. Epub 2014 Jun 29. Biomed Res Int. 2014. PMID: 25093188 Free PMC article. Review.
Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. ...Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous al …
Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin b …
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A, Seymour H, Ramsay M. Krause A, et al. Annu Rev Genomics Hum Genet. 2018 Aug 31;19:149-175. doi: 10.1146/annurev-genom-083117-021256. Annu Rev Genomics Hum Genet. 2018. PMID: 30169122 Review.
This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, a …
This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saha …
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 …
Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND. Thuong MTH, et al. J Clin Lab Anal. 2022 Sep;36(9):e24625. doi: 10.1002/jcla.24625. Epub 2022 Jul 23. J Clin Lab Anal. 2022. PMID: 35870188 Free PMC article.
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. ...This study provides a broader spectrum of mutations linked to the …
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, cau …
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, Rao AR, Abbasi AA, Shaikh RS, Waryah AM, Riazuddin S, Ahmed ZM. Sajid Z, et al. Genes (Basel). 2021 Mar 28;12(4):492. doi: 10.3390/genes12040492. Genes (Basel). 2021. PMID: 33800529 Free PMC article.
Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as par …
Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with vary …
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Power B, et al. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. Orphanet J Rare Dis. 2019. PMID: 30791930 Free PMC article.
BACKGROUND: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. ...Platelet aggregation studies in OCA1 cases were inconclusive. CONCLUSIONS: Clinical manifestations of oculocutaneous …
BACKGROUND: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine p …
216 results