Results 61 to 70 of about 2,978 (164)

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

open access: yesBritish Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander   +28 more
wiley   +1 more source

Oculocutaneous Albinism

open access: yesAsia-Pacific Journal of Ophthalmology, 2023
Hongfei, Ye, Kerong, Mao, Peiquan, Zhao
openaire   +2 more sources

A Case of oculocutaneous albinism in a Maltese

open access: yesJournal of Veterinary Science, 2005
A 4-month-old female maltese dog was admitted to Veterinary Medical Teaching Hospital of Seoul National University for evaluation of abnormal color of bilateral irises. This patient had the photophobia in the light and exhibited the complete absence of pigment resulting in white hair, pink muzzle, eyelids and foot-pads.
Shin Ae, Park   +6 more
openaire   +2 more sources

Oculocutaneous albinism [PDF]

open access: yesArchives of Disease in Childhood, 1999
S, Biswas, I C, Lloyd
openaire   +2 more sources

Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal

open access: yesAsian Journal of Medical Sciences, 2017
Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.
Arjun M Bhari
doaj   +1 more source

Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino

open access: yesIndian Journal of Dermatology, 2009
A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya   +2 more
doaj  

Hermansky-Pudlak syndrome: A case report

open access: yesThe Journal of Association of Chest Physicians, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin).
R Vani, S Keertihvasan, K Anbananthan
doaj   +1 more source

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

open access: yesBiomedicines
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina   +11 more
doaj   +1 more source

Chédiak-Higashi syndrome: presentation of seven cases

open access: yesSão Paulo Medical Journal
CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism.
Eugénia Maria Grilo Carnide   +5 more
doaj   +1 more source

Two Cases of Foveal Hypoplasia with Different Etiologies

open access: yesBeyoglu Eye Journal, 2017
In this report the optical coherence tomography (OCT) findings of 2 patients with foveal hypoplasia are presented. One patient had oculocutaneous albinism, which is a frequent cause of foveal hypoplasia, and had decreased visual acuity in both eyes.
Abdullah Ozkaya, Hatice Nur Tarakcioglu
doaj   +1 more source

Home - About - Disclaimer - Privacy