Disease: Albinism
- <em>GPR143</em> mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China
- 2023 Prentice Medal Award lecture: Ocular surface-related symptoms of discomfort and other stories
- 27 Chiasmal misrouting in infantile nystagmus syndrome (INS): phenotypes in patients with molecular diagnoses
- A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease
- A Genome-Wide Comparison of Rice False Smut Fungus <em>Villosiclava virens</em> Albino Strain LN02 Reveals the Genetic Diversity of Secondary Metabolites and the Cause of Albinism
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects
- A turn-on fluorescence probe for imaging tyrosinase at the wound site in broken tail of zebrafish
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <em>CACNA1F</em>-Associated Retinopathy-A Case Report
- Altered Perception of the Bistable Motion Quartet in Albinism
- Amelanotic melanoma in oculocutaneous albinism type 4 detected using violet-light dermoscopy
- Amino acids and flavonoids analysis reveals quality constituents difference among different albino tea resources
- An Exploratory Assessment of Self-Reported Satisfaction with Infrastructure and Out-of-Home Activities for People with Vision Impairments
- Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case
- Author response to " Comment on: Photosensitivity and filter efficacy in albinism" JOPTOM-D-23-00096
- Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers
- Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report
- CHIASM-Net: Artificial Intelligence-Based Direct Identification of Chiasmal Abnormalities in Albinism
- Clinical and mutational characteristics of oculocutaneous albinism type 7
- Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge
- Comment on: Photosensitivity and filter efficacy in albinism
- Comparative outcomes of autologous cultured melanocytes transplantation and non-cultured epidermal cell suspension transplantation in piebaldism patients: A retrospective study
- Comparative Physiology and Transcriptome Analysis Provides Insights into the Regulatory Mechanism of Albinotic <em>Bambusa oldhamii</em>
- Comparative transcriptome analysis reveals growth and molecular pathway of body color regulation in turbot (Scophthalmus maximus) exposed to different light spectrum
- Correlation between refraction and axial length in Albinos
- Crowding under scotopic and photopic vision in albino and normal-sighted participants
- Daylight photodynamic therapy as a treatment for for actinic field change in patients diagnosed with Oculocutaneous albinism in Sub-Saharan Africa
- Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review
- Differential expression and alternative splicing analyses of multiple tissues reveal albinism-associated genes in the Wels catfish (Silurus glanis)
- Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?
- ERG Responses in Albinism, Idiopathic Infantile Nystagmus, and Controls
- Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation
- Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism
- Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease
- Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family
- Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism
- Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF
- Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations
- Griscelli Syndrome Type 2 Presenting with Isolated Neurologic Disorder
- Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
- Human equivalent doses of L-DOPA rescues retinal morphology and visual function in a murine model of albinism
- Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses
- Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl<sup>-</sup>/H<sup>+</sup> Exchanger ClC-7
- In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis
- Insights into the physiological, molecular, and genetic regulators of albinism in <em>Camellia sinensis</em> leaves
- Integrated sun protection advice for the South African population
- Leaf variegation caused by plastome structural variation: an example from <em>Dianella tasmanica</em>
- Long-term nintedanib treatment for progressive pulmonary fibrosis associated with Hermansky-Pudlak syndrome type 1 followed by lung transplantation
- Low-Temperature-Mediated Promoter Methylation Relates to the Expression of <em>TaPOR2D</em>, Affecting the Level of Chlorophyll Accumulation in Albino Wheat (<em>Triticum aestivum</em> L.)
- Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report
- Mapping a research-advocacy-policy agenda on human rights and albinism: a mixed methods project
- Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease
- Molecular insights into the mechanisms of a leaf color mutant in Anoectochilus roxburghii by gene mapping and transcriptome profiling based on PacBio Sequel II
- Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L
- Multi-Omics Research Accelerates the Clarification of the Formation Mechanism and the Influence of Leaf Color Variation in Tea (<em>Camellia sinensis</em>) Plants
- Mutations in SLC45A2 leads to loss of melanin in parrot feathers
- Nanoformulations Insights: A Novel Paradigm for Antifungal Therapies and Future Perspectives
- Novel Arena of Nanocosmetics: Applications and their Remarkable Contribution in the Management of Dermal Disorders, Topical Delivery, Future Trends and Challenges
- Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
- Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families
- Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants
- Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity
- Nystagmus in the B6(CG)Tyr(c-2J)/J Albino Mouse: A Functional and RNA-Seq Analysis
- Oculocutaneous albinism in a Puerto Rican patient
- Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
- Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
- Pattern of color inheritance in African catfish (Clarias gariepinus): an expression of a Mendelian law
- Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors
- Phyto-cosmeceutical gel containing curcumin and quercetin loaded mixed micelles for improved anti-oxidant and photoprotective activity
- Plasticity mechanisms of genetically distinct Purkinje cells
- Pleural effusion due to lymphangiomatosis and the role of sirolimus: A case report
- Pre-Medications for Non-Emergency Tracheal Intubation in the United States Neonatal Intensive Care Units
- Presentation, Clinical Outcome, and Quality of Life of Patients Treated for Head and Neck Skin Cancer at the University College Hospital, Ibadan
- Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism
- Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
- Reduction of lens size in PAX6-related aniridia
- Runs of Homozygosity Detection and Selection Signature Analysis for Local Goat Breeds in Yunnan, China
- Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism
- Spectrum of <em>LYST</em> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
- Stacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique
- Strong selection signatures for Aleutian disease tolerance acting on novel candidate genes linked to immune and cellular responses in American mink (Neogale vison)
- Survival in primary hemophagocytic lymphohistiocytosis 2016-2021: etoposide is better than its reputation
- Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability
- The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
- The Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
- The ocular anterior segment examination of perinatal newborns by wide-field digital imaging system: a cross-sectional study
- The prevalence of autism among children with albinism
- Transcriptomic analysis of hub genes regulating albinism in light- and temperature-sensitive albino tea cultivars 'Zhonghuang 1' and 'Zhonghuang 2'
- TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations
- Ultra-widefield fundus image of an oculocutaneous albinism patient with rhegmatogenous retinal detachment
- Unprotected: the consequences of climate change for the health of persons with albinism
- Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of <em>DTNBP1</em> variants
- Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
- Vision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation
- Visual acuity improvement in children with albinism beyond the first decade of life
- Visual Field Deficits in Albinism in Comparison to Idiopathic Infantile Nystagmus
- Visual Impairment and Low Vision Aids-A Comparison between Children and Adults
- What Have We Learned about the Prevention of NMSC from Albino Patients from Malawi? Secondary Prevention Maintained over Time
- Whisker kinematics in the cerebellum