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Volumn 124, Issue 7, 2006, Pages 1048-1051

Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE; HISTOPATHOLOGY; HOMOZYGOSITY; HPS1 GENE; HUMAN; LUNG FIBROSIS; MALE; MICROSCOPY; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; OPHTHALMOLOGY; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PRIORITY JOURNAL; PUERTO RICO; ULTRASTRUCTURE;

EID: 33745829079     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.7.1048     Document Type: Article
Times cited : (8)

References (10)
  • 1
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    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998;338:1258-1264.
    • (1998) N Engl J Med , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brantly, M.2    Kaiser-Kupfer, M.I.3
  • 2
    • 4444265485 scopus 로고    scopus 로고
    • Molecular defects that affect platelet dense granules
    • Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004;30:537-547.
    • (2004) Semin Thromb Hemost , vol.30 , pp. 537-547
    • Gunay-Aygun, M.1    Huizing, M.2    Gahl, W.A.3
  • 4
    • 3442879832 scopus 로고    scopus 로고
    • Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1
    • Tsilou ET, Rubin BI, Reed GF, et al. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology. 2004;111:1599-1603.
    • (2004) Ophthalmology , vol.111 , pp. 1599-1603
    • Tsilou, E.T.1    Rubin, B.I.2    Reed, G.F.3
  • 5
    • 18744385809 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
    • Huizing M, Boissy RE, Gahl WA. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 2002;15:405-419.
    • (2002) Pigment Cell Res , vol.15 , pp. 405-419
    • Huizing, M.1    Boissy, R.E.2    Gahl, W.A.3
  • 6
    • 0031716330 scopus 로고    scopus 로고
    • Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking
    • Boissy RE, Zhao Y, Gahl WA. Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. Lab Invest. 1998;78:1037-1048.
    • (1998) Lab Invest , vol.78 , pp. 1037-1048
    • Boissy, R.E.1    Zhao, Y.2    Gahl, W.A.3
  • 7
    • 22144449246 scopus 로고    scopus 로고
    • Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1
    • Natsuga K, Akiyama M, Shimizu T, et al. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. J Invest Dermatol. 2005;125:154-158.
    • (2005) J Invest Dermatol , vol.125 , pp. 154-158
    • Natsuga, K.1    Akiyama, M.2    Shimizu, T.3
  • 8
    • 0021163979 scopus 로고
    • Oculocutaneous albinism and anterior chambre cleavage malformations: Not a coincidence
    • van Dorp DB, Delleman JW, Loewer-Sieger DH. Oculocutaneous albinism and anterior chambre cleavage malformations: not a coincidence. Clin Genet. 1984;26:440-444.
    • (1984) Clin Genet , vol.26 , pp. 440-444
    • Van Dorp, D.B.1    Delleman, J.W.2    Loewer-Sieger, D.H.3
  • 9
    • 0015854170 scopus 로고
    • Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism
    • Witkop CJ Jr, Hill CW, Desnick S, et al. Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol. 1973;60:443-456.
    • (1973) J Invest Dermatol , vol.60 , pp. 443-456
    • Witkop Jr., C.J.1    Hill, C.W.2    Desnick, S.3
  • 10
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    • The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
    • Gardner JM, Wildenberg SC, Keiper NM, et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 1997;94:9238-9243.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 9238-9243
    • Gardner, J.M.1    Wildenberg, S.C.2    Keiper, N.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.