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Quoted phrase not found in phrase index: "Oculocutaneous albinism type 5"
Page 1
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L, Kjer B, Lei U, Duno M, Grønskov K. Kessel L, et al. Ophthalmic Genet. 2021 Jun;42(3):230-238. doi: 10.1080/13816810.2021.1881979. Epub 2021 Feb 22. Ophthalmic Genet. 2021. PMID: 33612058
BACKGROUND: The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. ...In descending order the most common findings were: fov …
BACKGROUND: The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism …
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 Free PMC article.
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). ...None of the patients had any signs of hypopigme …
We compared the data to that of 133 Dutch patients with the 3 most common types of albinism in the Netherlands: oculocutaneous …
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T. Oki R, et al. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612. Invest Ophthalmol Vis Sci. 2017. PMID: 28192564
PURPOSE: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. METHODS: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detail …
PURPOSE: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC …
Amelanotic melanoma in a patient with oculocutaneous albinism.
Ruiz-Sanchez D, Garabito Solovera EL, Valtueña J, Aguado Garcia A, Garayar Cantero M, Martinez Garcia G, Manchado Lopez P. Ruiz-Sanchez D, et al. Dermatol Online J. 2020 May 15;26(5):13030/qt2gv5w93x. Dermatol Online J. 2020. PMID: 32621707 Free article. Review.
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin. ...Amelanotic melanomas are one of the two most difficult to diagnose s …
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized …
Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
Li C, Chen Q, Wu J, Ren J, Zhang M, Wang H, Li J, Tang Y. Li C, et al. J Biol Chem. 2022 May;298(5):101922. doi: 10.1016/j.jbc.2022.101922. Epub 2022 Apr 10. J Biol Chem. 2022. PMID: 35413289 Free PMC article.
Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by a partial or a complete absence of pigment in the skin/hai …
Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a gro …
Long-term vision outcomes for patients with albinism and diabetic retinopathy.
Murphy DC, Katta M, Egan CA, Michaelides M, Wickham L. Murphy DC, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Jul;260(7):2165-2173. doi: 10.1007/s00417-021-05313-x. Epub 2022 Jan 24. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35072785
However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compared a group of patients with albinism and PDR, to a group with albinism and diabetes mellitus but no PDR, to examine the long- …
However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compa …
Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
Si S, Jia X, Xu L, Qin Q, Wu J, Ji W, Dong K, Zhang X, Cao L, Wang H, Liu P, Wang R, Bai J, Fu S, Huang Y, Sun W. Si S, et al. Pigment Cell Melanoma Res. 2023 Nov;36(6):472-480. doi: 10.1111/pcmr.13111. Epub 2023 Jul 5. Pigment Cell Melanoma Res. 2023. PMID: 37403904
Oculocutaneous albinism (OCA) is a genetically heterogeneous disease and is most inherited in an autosomal recessive manner. ...Another variant in intron, NM_000372.5:c.1037-7 T > A, also affected the function of TYR gene. We verified the pathogenicity of …
Oculocutaneous albinism (OCA) is a genetically heterogeneous disease and is most inherited in an autosomal recessive manner. . …
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K, Teng CH, Hui G, Lin DL. Arcot Sadagopan K, et al. Ophthalmic Genet. 2023 Feb;44(1):54-69. doi: 10.1080/13816810.2022.2135109. Epub 2022 Oct 31. Ophthalmic Genet. 2023. PMID: 36316991
BACKGROUND: Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. ...Forty-five patients had non-syndromic OCA (11 OCA1B, 24 OCA2, 9 OCA4, and 1 OCA6), 5 patients had OA and 13 patients had HPS. All 3 BLOC-related HPS categories were seen …
BACKGROUND: Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. ...Forty-five patients had non-syndromic …
Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience.
Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A. Rosenmann E, et al. Pediatr Dev Pathol. 1999 Sep-Oct;2(5):404-14. doi: 10.1007/s100249900143. Pediatr Dev Pathol. 1999. PMID: 10441617
Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caused by the lack of tyrosinase activity. ...
Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caus …
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B, Chen X, Li H. Xu B, et al. Altern Ther Health Med. 2023 Oct;29(7):278-283. Altern Ther Health Med. 2023. PMID: 37471664 Free article.
OBJECTIVE: This study aims to investigate the main types of oculocutaneous albinism (OCA) and the distribution characteristics of mutations in the Chinese population. ...CONCLUSIONS: The results of gene mutation analysis in 40 families with oculocutaneous …
OBJECTIVE: This study aims to investigate the main types of oculocutaneous albinism (OCA) and the distribution characteristics …
44 results