Results 61 to 70 of about 3,749 (193)
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
Oculocutaneous Albinism in a Finetooth Shark, Carcharhinus isodon, from Mobile Bay, Alabama
, 2006 Albinism has been documented in numerous species of teleosts (Dawson, 1964, 1966, 1971; Dawson and Heal, 1971). However, published accounts of oculocutaneous albino elasmobranches are relatively rare.
Jones, Lisa M. +3 more
core +1 more source
Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome
Pediatric Dermatology, Volume 43, Issue 3, Page 706-710, May/June 2026.ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet +4 more
wiley +1 more source
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
Rare Germline Variants in CDKN2A‐Negative Children and Adolescents With Cutaneous Melanoma
Pigment Cell &Melanoma Research, Volume 39, Issue 2, March 2026.Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Peter A. Johansson +10 more
wiley +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
F1000Research, 2014 Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA. However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.
Mickaila Johnston +3 more
doaj +1 more source
Molecular Ecology, Volume 35, Issue 1, January 2026.ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki +7 more
wiley +1 more source