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Results: 1 to 20 of 24

1.

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER.

Am J Hum Genet. 2006 Jan;78(1):160-6. Epub 2005 Nov 28.

PMID:
16385460
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA.

Traffic. 2000 Nov;1(11):823-35. Review.

PMID:
11208073
[PubMed - indexed for MEDLINE]
3.

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Huizing M, Gahl WA.

Curr Mol Med. 2002 Aug;2(5):451-67. Review.

PMID:
12125811
[PubMed - indexed for MEDLINE]
4.

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.

Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT.

Bioessays. 2004 Jun;26(6):616-28. Review.

PMID:
15170859
[PubMed - indexed for MEDLINE]
5.

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

Huizing M, Boissy RE, Gahl WA.

Pigment Cell Res. 2002 Dec;15(6):405-19. Review.

PMID:
12453182
[PubMed - indexed for MEDLINE]
6.

The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.

Starcevic M, Nazarian R, Dell'Angelica EC.

Semin Cell Dev Biol. 2002 Aug;13(4):271-8. Review.

PMID:
12243726
[PubMed - indexed for MEDLINE]
7.

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

Shotelersuk V, Gahl WA.

Mol Genet Metab. 1998 Oct;65(2):85-96. Review.

PMID:
9787100
[PubMed - indexed for MEDLINE]
8.

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML.

Pigment Cell Res. 2006 Feb;19(1):19-42. Review.

PMID:
16420244
[PubMed - indexed for MEDLINE]
9.

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA.

Thromb Haemost. 2001 Jul;86(1):233-45. Review.

PMID:
11487012
[PubMed - indexed for MEDLINE]
10.

The cell biology of Hermansky-Pudlak syndrome: recent advances.

Di Pietro SM, Dell'Angelica EC.

Traffic. 2005 Jul;6(7):525-33. Review.

PMID:
15941404
[PubMed - indexed for MEDLINE]
11.

Mouse models of Hermansky Pudlak syndrome: a review.

Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L.

Pigment Cell Res. 1998 Apr;11(2):60-80. Review.

PMID:
9585243
[PubMed - indexed for MEDLINE]
12.

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

Wei AH, Li W.

Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31. Review.

PMID:
23171219
[PubMed - indexed for MEDLINE]
13.

Syndromic albinism: a review of genetics and phenotypes.

Scheinfeld NS.

Dermatol Online J. 2003 Dec;9(5):5. Review.

PMID:
14996378
[PubMed - indexed for MEDLINE]
Free Article
14.

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Oetting WS, King RA.

Hum Mutat. 1999;13(2):99-115. Review.

PMID:
10094567
[PubMed - indexed for MEDLINE]
15.

Hermansky-Pudlak syndrome: health care throughout life.

Seward SL Jr, Gahl WA.

Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Review.

PMID:
23753089
[PubMed - indexed for MEDLINE]
Free Article
16.

Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.

Spritz RA.

Pigment Cell Res. 2000 Feb;13(1):15-20. Review.

PMID:
10761991
[PubMed - indexed for MEDLINE]
17.

The building BLOC(k)s of lysosomes and related organelles.

Dell'Angelica EC.

Curr Opin Cell Biol. 2004 Aug;16(4):458-64. Review.

PMID:
15261680
[PubMed - indexed for MEDLINE]
18.

Hermansky-Pudlak syndrome: dental management considerations.

Feliciano NZ, Rivera E, Agrait E, Rodriguez K.

J Dent Child (Chic). 2006 Jan-Apr;73(1):51-6. Review.

PMID:
16734315
[PubMed - indexed for MEDLINE]
19.

Molecular defects that affect platelet dense granules.

Gunay-Aygun M, Huizing M, Gahl WA.

Semin Thromb Hemost. 2004 Oct;30(5):537-47. Review.

PMID:
15497096
[PubMed - indexed for MEDLINE]
20.

Oculocutaneous albinism.

Gr√łnskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.

PMID:
17980020
[PubMed - indexed for MEDLINE]
Free PMC Article

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