Hermansky–Pudlak syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hermansky–Pudlak syndrome" in English language version.

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13nih.gov

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7doi.org

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5worldcat.org

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2web.archive.org

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2semanticscholar.org

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1omim.org

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1whonamedit.com

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1odermatol.com

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1about.com

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1cigna.com

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1medscape.com

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1emedicine.com

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1geneticalliance.org

low place

about.com

rarediseases.about.com

"Hermansky–Pudlak Syndrome". Archived from the original on 21 September 2015. Retrieved 24 November 2008.

cigna.com

"Hermansky–Pudlak Syndrome". CIGNA.com. Retrieved 14 November 2008.

doi.org

Oh, J.; Ho, L.; Ala-Mello, S.; Amato, D.; Armstrong, L.; Bellucci, S.; Carakushansky, G.; Ellis, J. P.; Fong, C. T.; Green, J. S.; Heon, E.; Legius, E.; Levin, A. V.; Nieuwenhuis, H. K.; Pinckers, A.; Tamura, N.; Whiteford, M. L.; Yamasaki, H.; Spritz, R. A. (March 1998). "Mutation analysis of patients with Hermansky–Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity". American Journal of Human Genetics. 62 (3): 593–598. doi:10.1086/301757. PMC 1376951. PMID 9497254.
Santiago Borrero, P. J.; Rodríguez-Pérez, Y.; Renta, J. Y.; et al. (January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky–Pudlak syndrome type 1 and 3 mutations in Puerto Rico". Journal of Investigative Dermatology. 126 (1): 85–90. doi:10.1038/sj.jid.5700034. PMC 3560388. PMID 16417222.
Heřmanský, František; Pudlák, Pavel (1 February 1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies". Blood. 14 (2): 162–169. doi:10.1182/blood.V14.2.162.162. ISSN 0006-4971. PMID 13618373.
Li, W.; Zhang, Q.; Oiso, N.; Novak, E. K.; Gautam, R.; O'Brien, E. P.; Tinsley, C. L.; Blake, D. J.; Spritz, R. A.; Copeland, N. G.; Jenkins, N. A.; Amato, D.; Roe, B. A.; Starcevic, M.; Dell'Angelica, E. C.; Elliott, R. W.; Mishra, V.; Kingsmore, S. F.; Paylor, R. E.; Swank, R. T. (2003). "Hermansky–Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nature Genetics. 35 (1): 84–89. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
Wijermans, P. W.; Van Dorp, D. B. (March 1989). "Hermansky–Pudlak syndrome: Correction of bleeding time by 1-desamino-8D-arginine vasopressin". American Journal of Hematology. 30 (3): 154–157. doi:10.1002/ajh.2830300307. ISSN 0361-8609. PMID 2916560. S2CID 43301543.
Schallreuter, Karin U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M. (1993). "Hermansky–Pudlak syndrome in a Swiss population". Dermatology. 187 (4): 248–256. doi:10.1159/000247258. ISSN 1018-8665. PMID 8274781. Archived from the original on 23 January 2022.
Depinho, R. A.; Kaplan, K. L. (May 1985). "The Hermansky–Pudlak syndrome: Report of three cases and review of pathophysiology and management considerations". Medicine. 64 (3): 192–202. doi:10.1097/00005792-198505000-00004. ISSN 0025-7974. PMID 3921802. S2CID 20833320.

emedicine.com

"Hermansky–Pudlak Syndrome". Retrieved 24 November 2008.

geneticalliance.org

Schallreuter, Karin U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M. (1993). "Hermansky–Pudlak syndrome in a Swiss population". Dermatology. 187 (4): 248–256. doi:10.1159/000247258. ISSN 1018-8665. PMID 8274781. Archived from the original on 23 January 2022.

medscape.com

emedicine.medscape.com

"Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". Medscape. 13 June 2017.

nih.gov

pubmed.ncbi.nlm.nih.gov

Oh, J.; Ho, L.; Ala-Mello, S.; Amato, D.; Armstrong, L.; Bellucci, S.; Carakushansky, G.; Ellis, J. P.; Fong, C. T.; Green, J. S.; Heon, E.; Legius, E.; Levin, A. V.; Nieuwenhuis, H. K.; Pinckers, A.; Tamura, N.; Whiteford, M. L.; Yamasaki, H.; Spritz, R. A. (March 1998). "Mutation analysis of patients with Hermansky–Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity". American Journal of Human Genetics. 62 (3): 593–598. doi:10.1086/301757. PMC 1376951. PMID 9497254.
Santiago Borrero, P. J.; Rodríguez-Pérez, Y.; Renta, J. Y.; et al. (January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky–Pudlak syndrome type 1 and 3 mutations in Puerto Rico". Journal of Investigative Dermatology. 126 (1): 85–90. doi:10.1038/sj.jid.5700034. PMC 3560388. PMID 16417222.
Heřmanský, František; Pudlák, Pavel (1 February 1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies". Blood. 14 (2): 162–169. doi:10.1182/blood.V14.2.162.162. ISSN 0006-4971. PMID 13618373.
Li, W.; Zhang, Q.; Oiso, N.; Novak, E. K.; Gautam, R.; O'Brien, E. P.; Tinsley, C. L.; Blake, D. J.; Spritz, R. A.; Copeland, N. G.; Jenkins, N. A.; Amato, D.; Roe, B. A.; Starcevic, M.; Dell'Angelica, E. C.; Elliott, R. W.; Mishra, V.; Kingsmore, S. F.; Paylor, R. E.; Swank, R. T. (2003). "Hermansky–Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nature Genetics. 35 (1): 84–89. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean, L. J. H.; Gripp, K. W.; Amemiya, A.; Introne, W. J.; Huizing, M.; Malicdan, M. C. V.; O'Brien, K. J.; Gahl, W. A. (1993). Hermansky–Pudlak Syndrome. University of Washington, Seattle. PMID 20301464. Retrieved 24 November 2008.
Wijermans, P. W.; Van Dorp, D. B. (March 1989). "Hermansky–Pudlak syndrome: Correction of bleeding time by 1-desamino-8D-arginine vasopressin". American Journal of Hematology. 30 (3): 154–157. doi:10.1002/ajh.2830300307. ISSN 0361-8609. PMID 2916560. S2CID 43301543.
Schallreuter, Karin U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M. (1993). "Hermansky–Pudlak syndrome in a Swiss population". Dermatology. 187 (4): 248–256. doi:10.1159/000247258. ISSN 1018-8665. PMID 8274781. Archived from the original on 23 January 2022.
Depinho, R. A.; Kaplan, K. L. (May 1985). "The Hermansky–Pudlak syndrome: Report of three cases and review of pathophysiology and management considerations". Medicine. 64 (3): 192–202. doi:10.1097/00005792-198505000-00004. ISSN 0025-7974. PMID 3921802. S2CID 20833320.
Davies, B. H.; Tuddenham, E. G. (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: A new syndrome". The Quarterly Journal of Medicine. 45 (178): 219–232. ISSN 0033-5622. PMID 940919.

ncbi.nlm.nih.gov

Oh, J.; Ho, L.; Ala-Mello, S.; Amato, D.; Armstrong, L.; Bellucci, S.; Carakushansky, G.; Ellis, J. P.; Fong, C. T.; Green, J. S.; Heon, E.; Legius, E.; Levin, A. V.; Nieuwenhuis, H. K.; Pinckers, A.; Tamura, N.; Whiteford, M. L.; Yamasaki, H.; Spritz, R. A. (March 1998). "Mutation analysis of patients with Hermansky–Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity". American Journal of Human Genetics. 62 (3): 593–598. doi:10.1086/301757. PMC 1376951. PMID 9497254.
Santiago Borrero, P. J.; Rodríguez-Pérez, Y.; Renta, J. Y.; et al. (January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky–Pudlak syndrome type 1 and 3 mutations in Puerto Rico". Journal of Investigative Dermatology. 126 (1): 85–90. doi:10.1038/sj.jid.5700034. PMC 3560388. PMID 16417222.
Li, W.; Zhang, Q.; Oiso, N.; Novak, E. K.; Gautam, R.; O'Brien, E. P.; Tinsley, C. L.; Blake, D. J.; Spritz, R. A.; Copeland, N. G.; Jenkins, N. A.; Amato, D.; Roe, B. A.; Starcevic, M.; Dell'Angelica, E. C.; Elliott, R. W.; Mishra, V.; Kingsmore, S. F.; Paylor, R. E.; Swank, R. T. (2003). "Hermansky–Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nature Genetics. 35 (1): 84–89. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean, L. J. H.; Gripp, K. W.; Amemiya, A.; Introne, W. J.; Huizing, M.; Malicdan, M. C. V.; O'Brien, K. J.; Gahl, W. A. (1993). Hermansky–Pudlak Syndrome. University of Washington, Seattle. PMID 20301464. Retrieved 24 November 2008.

odermatol.com

Al Aboud, Khalid; Al Aboud, Daifullah (19 June 2013). "Eponyms in the determatology literature linked to Czech Republic". Our Dermatology. 4 (2): 426–428.

omim.org

Online Mendelian Inheritance in Man (OMIM): 203300

semanticscholar.org

api.semanticscholar.org

Wijermans, P. W.; Van Dorp, D. B. (March 1989). "Hermansky–Pudlak syndrome: Correction of bleeding time by 1-desamino-8D-arginine vasopressin". American Journal of Hematology. 30 (3): 154–157. doi:10.1002/ajh.2830300307. ISSN 0361-8609. PMID 2916560. S2CID 43301543.
Depinho, R. A.; Kaplan, K. L. (May 1985). "The Hermansky–Pudlak syndrome: Report of three cases and review of pathophysiology and management considerations". Medicine. 64 (3): 192–202. doi:10.1097/00005792-198505000-00004. ISSN 0025-7974. PMID 3921802. S2CID 20833320.

web.archive.org

"Hermansky–Pudlak Syndrome". Archived from the original on 21 September 2015. Retrieved 24 November 2008.
Schallreuter, Karin U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M. (1993). "Hermansky–Pudlak syndrome in a Swiss population". Dermatology. 187 (4): 248–256. doi:10.1159/000247258. ISSN 1018-8665. PMID 8274781. Archived from the original on 23 January 2022.

whonamedit.com

synd/2220 at Who Named It?

worldcat.org

search.worldcat.org

Heřmanský, František; Pudlák, Pavel (1 February 1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies". Blood. 14 (2): 162–169. doi:10.1182/blood.V14.2.162.162. ISSN 0006-4971. PMID 13618373.
Wijermans, P. W.; Van Dorp, D. B. (March 1989). "Hermansky–Pudlak syndrome: Correction of bleeding time by 1-desamino-8D-arginine vasopressin". American Journal of Hematology. 30 (3): 154–157. doi:10.1002/ajh.2830300307. ISSN 0361-8609. PMID 2916560. S2CID 43301543.
Schallreuter, Karin U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M. (1993). "Hermansky–Pudlak syndrome in a Swiss population". Dermatology. 187 (4): 248–256. doi:10.1159/000247258. ISSN 1018-8665. PMID 8274781. Archived from the original on 23 January 2022.
Depinho, R. A.; Kaplan, K. L. (May 1985). "The Hermansky–Pudlak syndrome: Report of three cases and review of pathophysiology and management considerations". Medicine. 64 (3): 192–202. doi:10.1097/00005792-198505000-00004. ISSN 0025-7974. PMID 3921802. S2CID 20833320.
Davies, B. H.; Tuddenham, E. G. (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: A new syndrome". The Quarterly Journal of Medicine. 45 (178): 219–232. ISSN 0033-5622. PMID 940919.