Results 1 to 10 of about 4,813 (168)
Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis [PDF]
Respiratory Medicine Case ReportsHermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia
Matthew Donnan +2 more
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Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype [PDF]
G3: Genes, Genomes, Genetics, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
James C. Hart, Craig T. Miller
doaj +4 more sources
Muller Journal of Medical Sciences and Research, 2014 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee +4 more
doaj +2 more sources
Hermansky-Pudlak Syndrome: A Case Report [PDF]
Case Reports in Hematology, 2014 Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention.
Ilhami Berber +7 more
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Hermansky-Pudlak Syndrome [PDF]
, 2013 Oculocutaneous albinism is classified into non-syndromic oculocutaneous albinism (OCA) and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome (CHS) and Griscelli syndrome (GS). Both non-syndromic and syndromic OCAs are autosomal recessive disorders.
Akira Kawada, Naoki Oiso
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Hermansky-Pudlak syndrome; a Case Report [PDF]
Journal of Ophthalmic & Vision Research, 2010 Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising.
Abbas Bagheri, Asieh Abdollahi
doaj +3 more sources
Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1 [PDF]
Orphanet Journal of Rare DiseasesHermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality in these patients.
Lourdes Marinna Caro-Rivera +11 more
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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease [PDF]
European Respiratory Review, 2021 Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS),
Tadafumi Yokoyama +1 more
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Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 [PDF]
Orphanet Journal of Rare Diseases, 2022 Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico.
Gabriel Santos Malave +2 more
doaj +2 more sources
A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) [PDF]
BMC GenomicsBackground Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease.
Seyyed Mohammad Kahani +5 more
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