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Items: 1 to 20 of 178

1.

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.

Traffic. 2004 Sep;5(9):711-22.

2.

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Anderson PD, Huizing M, Claassen DA, White J, Gahl WA.

Hum Genet. 2003 Jul;113(1):10-7. Epub 2003 Mar 27.

PMID:
12664304
3.
4.

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR.

Nat Genet. 2001 Aug;28(4):376-80.

PMID:
11455388
5.

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.

Bachli EB, Brack T, Eppler E, Stallmach T, Trüeb RM, Huizing M, Gahl WA.

Am J Med Genet A. 2004 Jun 1;127A(2):201-7.

PMID:
15108212
6.

The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).

Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC.

Traffic. 2007 Feb;8(2):154-68. Epub 2006 Dec 7.

8.

Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.

Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.

Clin Genet. 2005 Jul;68(1):23-30.

PMID:
15952982
9.

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.

Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC.

Traffic. 2004 Apr;5(4):276-83.

10.

Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).

Sandrock K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, Busse A, Zieger B.

Klin Padiatr. 2010 May;222(3):168-74. doi: 10.1055/s-0030-1249628. Epub 2010 May 31.

PMID:
20514622
11.

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

Huizing M, Anikster Y, White JG, Gahl WA.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):217-25.

PMID:
11592818
12.

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
13.

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.

Hum Mutat. 2006 Nov;27(11):1158.

PMID:
17041891
14.

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
15.

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA.

Pediatr Res. 2002 Feb;51(2):150-8.

PMID:
11809908
16.

Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.

González-Conejero R, Rivera J, Escolar G, Zuazu-Jausoro I, Vicente V, Corral J.

Br J Haematol. 2003 Oct;123(1):132-8.

PMID:
14510955
17.

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

Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W.

Ophthalmology. 2004 Aug;111(8):1599-603.

PMID:
15288994
18.

The gene for lysosomal protein CD63 is normal in patients with Hermansky-Pudlak syndrome.

Armstrong LW, Rom WN, Martiniuk FT.

Lung. 1998;176(4):249-56.

PMID:
9617741
19.

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Dec;131(12):2394-400. doi: 10.1038/jid.2011.228. Epub 2011 Aug 11.

20.

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA.

Am J Hum Genet. 2001 Nov;69(5):1022-32. Epub 2001 Oct 3.

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