Literature DB >> 16832032

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

Min Zhou1, Libe Gradstein, John A Gonzales, Ekaterini T Tsilou, William A Gahl, Chi-Chao Chan.   

Abstract

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Year:  2006        PMID： 16832032      PMCID： PMC2478744          DOI： 10.1001/archopht.124.7.1048

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  10 in total

1.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.

Authors:  J M Gardner; S C Wildenberg; N M Keiper; E K Novak; M E Rusiniak; R T Swank; N Puri; J N Finger; N Hagiwara; A L Lehman; T L Gales; M E Bayer; R A King; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

Review 2.  Molecular defects that affect platelet dense granules.

Authors:  Meral Gunay-Aygun; Marjan Huizing; William A Gahl
Journal:  Semin Thromb Hemost       Date:  2004-10       Impact factor: 4.180

3.  Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.

Authors:  Ken Natsuga; Masashi Akiyama; Tadamichi Shimizu; Tamio Suzuki; Shiro Ito; Yasushi Tomita; Junji Tanaka; Hiroshi Shimizu
Journal:  J Invest Dermatol       Date:  2005-07       Impact factor: 8.551

4.  Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

Authors:  W A Gahl; M Brantly; M I Kaiser-Kupfer; F Iwata; S Hazelwood; V Shotelersuk; L F Duffy; E M Kuehl; J Troendle; I Bernardini
Journal:  N Engl J Med       Date:  1998-04-30       Impact factor: 91.245

5.  Hermansky-Pudlak syndrome. Ophthalmic findings.

Authors:  C G Summers; W H Knobloch; C J Witkop; R A King
Journal:  Ophthalmology       Date:  1988-04       Impact factor: 12.079

6.  Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism.

Authors:  C J Witkop; C W Hill; S Desnick; J K Thies; H L Thorn; M Jenkins; J G White
Journal:  J Invest Dermatol       Date:  1973-06       Impact factor: 8.551

7.  Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence.

Authors:  D B van Dorp; J W Delleman; D H Loewer-Sieger
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

Review 8.  Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

Authors:  Marjan Huizing; Raymond E Boissy; William A Gahl
Journal:  Pigment Cell Res       Date:  2002-12

9.  Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Authors:  Ekaterini T Tsilou; Benjamin I Rubin; George F Reed; Lessie McCain; Marjan Huizing; James White; Muriel I Kaiser-Kupfer; William Gahl
Journal:  Ophthalmology       Date:  2004-08       Impact factor: 12.079

10.  Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.

Authors:  R E Boissy; Y Zhao; W A Gahl
Journal:  Lab Invest       Date:  1998-09       Impact factor: 5.662
  10 in total
  3 in total

1.  [Hermansky-Pudlak syndrome].

Authors:  A Atili; J Lübke; M Shoukier; M P Schittkowski
Journal:  Ophthalmologe       Date:  2013-02       Impact factor: 1.059

Review 2.  Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Authors:  Magella M Neveu; Srikanta Kumar Padhy; Srishti Ramamurthy; Brijesh Takkar; Subhadra Jalali; Deepika Cp; Tapas Ranjan Padhi; Anthony G Robson
Journal:  Clin Ophthalmol       Date:  2022-05-24

3.  Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus.

Authors:  Tara H Cronin; Richard W Hertle; Hiroshi Ishikawa; Joel S Schuman
Journal:  J AAPOS       Date:  2009-12       Impact factor: 1.220
  3 in total

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