Results 151 to 160 of about 6,439 (248)

MOLECULAR OUTCOMES, CLINICAL CONSEQUENCES, AND GENETIC DIAGNOSIS OF OCULOCUTANEOUS ALBINISM IN PAKISTANI POPULATION

, 2023
Mohammad Israr, Muhammad Idrees, Mujeeb Alam Khan, Mansoor Ahmad, Muhammad Shoaib, Sarwat Abbassi   +5 more
openalex   +1 more source

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7. [PDF]

Nat Commun
Butkovič R, Healy MD, de Heus C, Walker AP, Beyers W, McNally KE, Lewis PA, Heesom KJ, Liv N, Klumperman J, Di Pietro S, Collins BM, Cullen PJ.   +12 more
europepmc   +2 more sources

Genetic analyses of Vietnamese patients with oculocutaneous albinism. [PDF]

J Clin Lab Anal, 2022
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND.   +8 more
europepmc   +1 more source

Whole Exome Sequencing in Consanguineous Kashmiri Families Identifies Recurrent Mutations in TYR Gene Causing Oculocutaneous Albinism

Saiqa Khushal
openalex   +1 more source

The Mouse p (pink‐eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH [PDF]

, 2001
Murray H. Brilliant
openalex   +1 more source

Oculocutaneous albinism in a patient with an <i>OCA2</i> variant: molecular and clinical insights. [PDF]

Asian Biomed (Res Rev News)
Neissi M, Al-Mozani SK, Al-Zaalan AR, Sanavi Shiri S, Sheikh-Hosseini M, Al-Badran AI, Nekouei E.   +6 more
europepmc   +1 more source

Histopathologic patterns of cutaneous malignancies in individuals with oculocutaneous albinism in Anambra state, Nigeria: a paradigm swing? [PDF]

, 2020
Nkechi Anne Enechukwu, Gabriel Olabiyi Ogun, Ogochukwu Ifeanyi Ezejiofor, TOG Chukwuanukwu, Joseph Yaria, Adekunle Olufemi George, Adebola Ogunbiyi   +6 more
openalex   +1 more source

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1). [PDF]

Invest Ophthalmol Vis Sci
Köller AF, Käsmann-Kellner B, Benseler F, Tschernig T, Löw U, Maxeiner S, Schwarz K, Brose N, Geerling G, Seitz B, Schmitz F.   +10 more
europepmc   +1 more source

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

, 2015
Faravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor, Gholamreza Javadi   +3 more
openalex  

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings. [PDF]

GMS Ophthalmol Cases
Nishant P, Aftab N, Saha B, Raj A.
europepmc   +1 more source