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Hermansky-Pudlak Syndrome.
El-Chemaly S, Young LR. El-Chemaly S, et al. Clin Chest Med. 2016 Sep;37(3):505-11. doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30. Clin Chest Med. 2016. PMID: 27514596 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. ...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, ble
The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R. Obeng-Tuudah D, et al. Int J Gynaecol Obstet. 2021 Sep;154(3):412-426. doi: 10.1002/ijgo.13632. Epub 2021 Mar 9. Int J Gynaecol Obstet. 2021. PMID: 33521972 Review.
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism (OCA). ...In 17 pregnancies with known HPS diagnosis, 9 had hemosta …
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of blee …
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Vicary GW, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. Ann Am Thorac Soc. 2016. PMID: 27529121 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism
Inherited platelet disorders.
Sandrock-Lang K, Wentzell R, Santoso S, Zieger B. Sandrock-Lang K, et al. Hamostaseologie. 2016 Aug 3;36(3):178-86. doi: 10.5482/HAMO-14-11-0067. Epub 2015 Feb 24. Hamostaseologie. 2016. PMID: 25707719 Review.
The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin alphaIIbbeta3 defect) and Bernard-Soulier syndrome (defect of GPIb/IX/V). Detailed case reports of patients suffering from Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome
The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin alphaIIbbeta3 defect) and Bernard-Soulier syndrom
Rab38 Mutation and the Lung Phenotype.
Osanai K. Osanai K. Int J Mol Sci. 2018 Jul 27;19(8):2203. doi: 10.3390/ijms19082203. Int J Mol Sci. 2018. PMID: 30060521 Free PMC article. Review.
While chocolate mice only show oculocutaneous albinism, Ruby rats show oculocutaneous albinism and prolonged bleeding time and, hence, are a rat model of Hermansky-Pudlak syndrome (HPS). Most patients with HPS suffer from fatal interstitial pneumonia by middl …
While chocolate mice only show oculocutaneous albinism, Ruby rats show oculocutaneous albinism and prolonged bleeding time and, hence, are a …
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.
Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical findings of oculocutaneous albinism, a platelet storage pool deficiency, and some degree of ceroid lipofuscinosis. ...Two HPS-causing genes, HP
Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical fin
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Bowman SL, Bi-Karchin J, Le L, Marks MS. Bowman SL, et al. Traffic. 2019 Jun;20(6):404-435. doi: 10.1111/tra.12646. Traffic. 2019. PMID: 30945407 Free PMC article. Review.
The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. This review provides a comprehensive overview of LROs in humans …
The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disor …
Rab32 restriction of intracellular bacterial pathogens.
Solano-Collado V, Rofe A, Spanò S. Solano-Collado V, et al. Small GTPases. 2018 May 4;9(3):216-223. doi: 10.1080/21541248.2016.1219207. Epub 2016 Sep 20. Small GTPases. 2018. PMID: 27645564 Free PMC article. Review.
Salmonella enterica is an intracellular bacterium and a major cause of infections and deaths in humans. Rab32 and its guanine nucleotide exchange factor BLOC-3 are essential to prevent the growth of the human-restricted Salmonella enterica serovar Typhi (S. Typhi) in mice, …
Salmonella enterica is an intracellular bacterium and a major cause of infections and deaths in humans. Rab32 and its guanine nucleotide exc …
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML. Wei ML. Pigment Cell Res. 2006 Feb;19(1):19-42. doi: 10.1111/j.1600-0749.2005.00289.x. Pigment Cell Res. 2006. PMID: 16420244 Review.
The Hermansky-Pudlak syndrome (HPS) is a collection of related autosomal recessive disorders which are genetically heterogeneous. ...
The Hermansky-Pudlak syndrome (HPS) is a collection of related autosomal recessive disorders which are genetically hete …
[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Wang D, Huang J, Zhang K, Lyu Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1392-1396. doi: 10.3760/cma.j.cn511374-20211101-00868. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37906148 Review. Chinese.
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5). METHODS: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was sel …
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS- …
47 results