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Quoted phrase not found in phrase index: "Albinism in humans"
Page 1
Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.
Marçon CR, Maia M. Marçon CR, et al. An Bras Dermatol. 2019 Sep-Oct;94(5):503-520. doi: 10.1016/j.abd.2019.09.023. Epub 2019 Sep 30. An Bras Dermatol. 2019. PMID: 31777350 Free PMC article. Review.
Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. ...In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and …
Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melan …
Albinism in Europe.
Mártinez-García M, Montoliu L. Mártinez-García M, et al. J Dermatol. 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. J Dermatol. 2013. PMID: 23668539 Review.
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. ...In summary, …
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only …
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.
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at a …
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in p …
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
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype …
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus …
Making progress in albinism.
Brooks BP. Brooks BP. J AAPOS. 2011 Feb;15(1):1-2. doi: 10.1016/j.jaapos.2011.01.002. J AAPOS. 2011. PMID: 21397796 No abstract available.
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
Ma EZ, Zhou AE, Hoegler KM, Khachemoune A. Ma EZ, et al. Arch Dermatol Res. 2023 Mar;315(2):107-116. doi: 10.1007/s00403-022-02335-1. Epub 2022 Feb 25. Arch Dermatol Res. 2023. PMID: 35217926 Review.
Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. ...We also discuss the medical and psychosocial challenges that affect individuals with OCA and the current landscape of albinism treatment modalities …
Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. ...We also discus …
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 as …
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the m …
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 …
4,302 results