Results 21 to 30 of about 7,863 (174)

Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk
Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White
Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami   +4 more
doaj   +2 more sources

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

, 2021
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an ...
BP Brooks (9883733), HJ Kuht (10129634), Aamir, Abdullah, A Aamir (10129631), Grønskov, Karen, Thomas, Mervyn G., MG Thomas (7665839), K Grønskov (10134551), Kuht, Helen J., Brooks, Brian P., Mervyn G. Thomas, Helen J. Kuht, Brian P. Brooks, Karen Grønskov, Abdullah Aamir   +14 more
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A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [PDF]

, 2017
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
V. Jagannathan, M. Caduff, A. Bauer, Caduff, M, Bauer, Anina, Jagannathan, Vidhya, Leeb, Tosso, T. Leeb, Jagannathan V, Leeb T, Bauer A, Caduff M   +11 more
core   +4 more sources

Oculocutaneous Albinism [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013
Review on Oculocutaneous Albinism, with data on clinics, and the genes involved.
Ray, K, Sengupta, M
  +7 more sources

Foveal avascular zone in oculocutaneous albinism [PDF]

, 2021
Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal ...
Mansour, Ahmad Mohammed Farid Mahmoud, Uwaydat, Sami H., Younis, Muhammad H., Mansour, Hana A.   +3 more
core   +1 more source

TYR (tyrosinase (oculocutaneous albinism IA)) [PDF]

, 2012
Review on TYR (tyrosinase (oculocutaneous albinism IA)), with data on DNA, on the protein encoded, and where the gene is ...
Mendoza, EE, Burd, R
core   +1 more source

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

BMC Medical Genetics, 2019
Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for ...
Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan   +11 more
doaj   +1 more source

Oculocutaneous Albinism in a Finetooth Shark, Carcharhinus isodon, from Mobile Bay, Alabama [PDF]

, 2006
Albinism has been documented in numerous species of teleosts (Dawson, 1964, 1966, 1971; Dawson and Heal, 1971). However, published accounts of oculocutaneous albino elasmobranches are relatively rare.
Jones, Lisa M., Lisa M. Jones, Robert L. Shipp, Shipp, Robert L.   +3 more
core   +1 more source

Amelanotic melanoma in a patient with oculocutaneous albinism [PDF]

, 2020
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.
Aguado Garcia, A, Valtueña, J, Ruiz-Sanchez, D, Garabito Solovera, EL, Martinez Garcia, G, Garayar Cantero, M, Manchado Lopez, P, G Martinez Garcia, J Valtueña, A Aguado Garcia, EL Garabito Solovera, D Ruiz-Sanchez, Ruiz-Sanchez, D ; Garabito Solovera, EL ; Valtueña, J ; Aguado Garcia, A ; Garayar Cantero, M ; Martinez Garcia, G ; Manchado Lopez, P, P Manchado Lopez, M Garayar Cantero   +14 more
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Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [PDF]

, 2022
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities.
Padhi, Tapas Ranjan, Ramamurthy, Srishti, Padhy, Srikanta Kumar, CP, Deepika, Padhy, SK, Neveu, MM, Padhi, TR, Ramamurthy, S, Takkar, B, Jalali, S, Deepika, CP, Robson, Anthony G, Robson, AG, Neveu, Magella M, Takkar, Brijesh, Jalali, Subhadra, Subhadra Jalali, Anthony G Robson, Srikanta Kumar Padhy, Tapas Ranjan Padhi, Srishti Ramamurthy, Deepika CP, Brijesh Takkar, Magella M Neveu   +23 more
core   +2 more sources