Results 71 to 80 of about 7,886 (197)
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, Volume 13, Issue 22, 17 April 2026.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
Oculocutaneous albinism: an African perspective
British and Irish Orthoptic Journal, 2014 Aim: To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj +1 more source
Retinopathy of prematurity in oculocutaneous albinism
Indian Journal of Ophthalmology, 2019 We report a case of retinopathy of prematurity (ROP) in an infant with oculocutaneous albinism (OCA), with the challenges faced in diagnosis, and subsequent management. Poor fundus contrast and blanching of retinal vessels on indentation caused significant visualization problems in detection of ridge and extraretinal vessel proliferation.
Parijat Chandra +4 more
openaire +3 more sources
Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome?
, 2000 A sister and brother, with oculocutaneous albinism and reduced bone density are described. Autosomal recesive inheritance is possible. This association has not been previously described.
Gul, D, Kutlu, M, Odabas, E
core +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Congenital Anomalies, Volume 66, Issue 1, January/February 2026.ABSTRACT Teratology, the study of congenital anomalies, has developed from a descriptive discipline into a mechanistic science focused on the proximate causes of developmental defects, meaning how such anomalies arise during development. However, a comprehensive understanding requires not only this mechanistic insight but also an evolutionary ...
Tetsuo Kon
wiley +1 more source
, 2011 A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia ...
Seven, Mehmet +5 more
core +1 more source
Asia-Pacific Journal of Ophthalmology, 2023 Hongfei, Ye, Kerong, Mao, Peiquan, Zhao
openaire +2 more sources
A Case of oculocutaneous albinism in a Maltese
Journal 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
Genetic Causes of Oculocutaneous Albinism in Pakistani Population
, 2021 Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance ...
Tauqeer A. Mughal +11 more
core +1 more source