Associated Papers
Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.
Alhomayin LA et al.
The American Journal of Case Reports, 2025
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Bobreshova AM et al.
International Journal of Molecular Sciences, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M et al.
International Journal of Molecular Sciences, 2024
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E et al.
American Journal of Human Genetics, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Pelusi S et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.
Stark C et al.
Erj Open Research, 2022
Pathogenic Aspects of Inherited Platelet Disorders.
Boeckelmann D et al.
Hamostaseologie, 2021
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei A et al.
Pigment Cell & Melanoma Research, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B et al.
Orphanet Journal of Rare Diseases, 2019
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018