First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2.

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report.

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Screening of Clinical Data of Patients with Abnormal Head Posture and Investigation of Abnormal Head Posture Change After Treatment.

Efficient genome editing in medaka (Oryzias latipes) using a codon-optimized SaCas9 system.

A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.

Impairment of Renal Function in Hermansky-Pudlak Syndrome.

Albinism and Blood Cell Profile: The Peculiar Case of Asinara Donkeys.

[Correlation between refraction and axial length in Albinos].

Comparative transcriptome analysis reveals growth and molecular pathway of body color regulation in turbot (Scophthalmus maximus) exposed to different light spectrum.

Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease.

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.

Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.

A review of treatment of port-wine stains with pulsed dye laser in fitzpatrick skin type IV-VI.

Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India.

[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].

In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.

Hermansky-Pudlak syndrome presenting with paranoid delusion.

Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

Molecular genetic characterization of Congolese patients with oculocutaneous albinism.

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.

AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio).

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.

Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).

Long-term vision outcomes for patients with albinism and diabetic retinopathy.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.

Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.

[Study on TYR gene variant from a pedigree with oculocutaneous albinism].

INADVERTENT GLOBE PENETRATION AND SUBRETINAL INJECTION OF BOTULINUM TOXIN IN A PATIENT WITH OCULOCUTANEOUS ALBINISM.

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.

Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents.

Identification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5.

Amelanotic melanoma in a patient with oculocutaneous albinism.

A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population.

[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].

A novel porcine model reproduces human oculocutaneous albinism type II.

[Upper crossed syndrome of muscle imbalance in adolescents with tension-type headache].

Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an amelanistic morph.

Modeling human point mutation diseases in Xenopus tropicalis with a modified CRISPR/Cas9 system.

Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.

Predictable and precise template-free CRISPR editing of pathogenic variants.

In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous albinism type 6 (OCA 6) disorder.

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.

Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses.

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

A new type of syndromic albinism associated with mutations in AP3D1.

A cross-sectional examination of visual acuity by specific type of albinism.

Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism.

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

Cytoplasmic Control of Sense-Antisense mRNA Pairs.

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi.

Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome.