Hermansky Pudlak Syndrome 2
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Last Posted: Jul 07, 2023
- High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.
Delia Irene Fernández, et al. Blood advances 2023 0 - Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
Chan Kyle S, et al. Genes 2023 0 (1) - Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen Max W, et al. Nature 2018 0 (7733) 646-651 - Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei Aihua, et al. Pigment cell & melanoma research 2018 0 (3) 373-380 - Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power Bradley, et al. Orphanet journal of rare diseases 2019 0 (1) 52 - Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs.
Laukner Anna, et al. Genes 2021 0 (7) - A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
Zhong Zilin, et al. Pigment cell & melanoma research 2021 0 (6) 1112-1119 - Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
Yokoyama Tadafumi, et al. European respiratory review : an official journal of the European Respiratory Society 2021 0 (159) - Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Marek-Yagel Dina, et al. Frontiers in genetics 2022 0 936064 - Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik Tinka, et al. Acta chimica Slovenica 2021 0 (3) 683-692 - Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht Helen J, et al. Ophthalmology 2022 0 (6) 708-718 - Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Pelusi Serena, et al. Liver international : official journal of the International Association for the Study of the Liver 2022 0 (4) 864-870 - GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses.
Hammons Vada, et al. The Journal of heredity 2021 8 - Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Liu Teng, et al. Pigment cell & melanoma research 2020 7 - NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei Aihua, et al. Pigment cell & melanoma research 2016 9 - Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
Kuratomi Go, et al. BMC psychiatry 2013 0 (1) 276 - An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
Saito Atsushi, et al. Psychiatric genetics 2013 8 (4) 163-73 - Hermansky Pudlak syndrome 2
From NCATS Genetic and Rare Diseases Information Center - Hermansky-Pudlak syndrome
From NCATS Genetic and Rare Diseases Information Center - Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
Marzi Carola, et al. PLoS genetics 2010 11 (11) e1001213
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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