Results 41 to 50 of about 2,978 (164)
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Children with albinism in African regions: their rights to ‘being’ and ‘doing’
BMC International Health and Human Rights, 2018 Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin +3 more
doaj +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
BMC Genetics, 2012 Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation ...
Damé Maria Cecília +6 more
doaj +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
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 ArākIntroduction: 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 +4 more
doaj
Genetics Selection Evolution, 2017 Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype.
Sophie Rothammer +7 more
doaj +1 more source
South African Journal of Occupational Therapy, 2020 Background and aim: The World Federation of Occupational Therapists' urges occupational therapists to recognise when people are being denied the right to participate in occupations and advocate for change. People with oculocutaneous albinism face stigma
Lara Mather +7 more
doaj +1 more source
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
Molecular Basis of Oculocutaneous Albinism.
Journal of Investigative Dermatology, 1994 Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders.
Getting, William S, King, Richard A
openaire +2 more sources