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Year Number of Results
1991 1
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2002 4
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2005 2
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Page 1
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. ...Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, a …
The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting th …
Hermansky-Pudlak Syndrome.
De Jesus Rojas W, Young LR. De Jesus Rojas W, et al. Semin Respir Crit Care Med. 2020 Apr;41(2):238-246. doi: 10.1055/s-0040-1708088. Epub 2020 Apr 12. Semin Respir Crit Care Med. 2020. PMID: 32279294 Review.
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulatio
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinis
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
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
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. ...In Puerto Rico, patients with HPS are often identified shortly after birth by thei
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism
Hermansky-Pudlak syndrome: health care throughout life.
Seward SL Jr, Gahl WA. Seward SL Jr, et al. Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Pediatrics. 2013. PMID: 23753089 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. ...Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with t
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9
Unusual colitides.
Sanderson IR. Sanderson IR. Baillieres Clin Gastroenterol. 1994 Mar;8(1):181-96. doi: 10.1016/s0950-3528(06)80025-4. Baillieres Clin Gastroenterol. 1994. PMID: 8003742 Review.
These include colitis or enterocolitis secondary to Hirschsprung's disease and metabolic disorders (which include Hermansky-Pudlak syndrome, glycogen storage disease type 1b and pellagra). ...
These include colitis or enterocolitis secondary to Hirschsprung's disease and metabolic disorders (which include Hermansky-Pudlak
[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 selected a …
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS- …
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: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL. Bin Saeedan M, et al. Curr Probl Diagn Radiol. 2015 Jul-Aug;44(4):383-5. doi: 10.1067/j.cpradiol.2015.01.003. Epub 2015 Jan 30. Curr Probl Diagn Radiol. 2015. PMID: 25728501 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. Pulmonary invo
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocuta
47 results