Results 111 to 120 of about 6,439 (248)

Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report

, 2021
Mehmet Kılıç, Mehmet Hazar Özcan, Erdal Taşkın, Hakan Yıldırım, Aşkın Şen   +4 more
openalex   +2 more sources

Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)

Pesquisa Veterinária Brasileira
: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same.
Pedro N. Bernardino, Aline F.A. Martins, José D. Barbosa, Ana L. Schild, Maria Cecília F. Damé, Alexandre S. Borges, José P. Oliveira-Filho   +6 more
doaj   +1 more source

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific Reports, 2017
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes.
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self   +17 more
doaj   +1 more source

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome [PDF]

, 2000
Shinji Saitoh, NAOKI OISO, TAKAHITO WADA, OSAMU NARAZAKI, KAZUYOSHI FUKAI   +4 more
openalex   +1 more source

An exploration of pre-attentive visual discrimination using event-related potentials [PDF]

, 2013
The Mismatch Negativity (MMN) has been characterised as a ‘pre-attentive’ component of an Event-Related Potential (ERP) that is related to discriminatory processes.
Flynn, M., Flynn, M.
core  

Posterior vortex vein with foveal hypoplasia in oculocutaneous albinism

, 2023
Kushal Delhiwala, Ankit Shah, Bakulesh Khamar, Rushik Patel, Parth Rana   +4 more
openalex   +1 more source

Tyrosinase Gene Mutations Causing Oculocutaneous Albinisms.

Journal of Investigative Dermatology, 1993
Since the first report of a mutation in the tyrosinase gene that causes tyrosinase-negative oculocutaneous albinism (OCA), more than 25 alleles with a different mutation in patients with three types of OCA, i.e., tyrosinase-negative OCA (type IA), yellow-mutant OCA (type IB), and temperature sensitive OCA (type ITS), have been found in several ...
openaire   +2 more sources

Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome. [PDF]

, 2017
PurposeMetabolic syndrome (MetS) is associated with several degenerative diseases, including retinal degeneration. Previously, we reported on progressive retinal degeneration in a spontaneous obese rat (WNIN/Ob) model.
Ayyagari, Radha, Godisela, Kishore Kumar, Jablonski, Monica M, Kumar, Chekkilla Uday, Reddy, Geereddy Bhanuprakash, Reddy, Paduru Yadagiri, Reddy, Singareddy Sreenivasa, Saravanan, Natarajan   +7 more
core  

Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

Clinical Ophthalmology, 2014
Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis.
Masuda N, Hasegawa T, Yamashita M, Ogata N   +3 more
doaj  

Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism [PDF]

, 2012
Tasleem Kausar, Thomas Jaworek, Nabeela Tariq, Sobia Sadia, Muhammad Ali, Rehan Sadiq Shaikh, Zubair M. Ahmed   +6 more
openalex   +1 more source