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Items: 1 to 20 of 134

1.

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA.

Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2.

2.

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.

3.

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.

4.
5.

Hermansky-Pudlak syndrome in two African-American brothers.

Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA.

Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757.

6.

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.

Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y.

J Invest Dermatol. 2005 Oct;125(4):715-20.

7.

Novel mutations in the HPS1 gene among Puerto Rican patients.

Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M.

Clin Genet. 2011 Jun;79(6):561-7. doi: 10.1111/j.1399-0004.2010.01491.x.

PMID:
20662851
8.

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
9.

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
10.

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
11.

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA.

J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20.

12.

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Jardón J, Izquierdo NJ, Renta JY, García-Rodríguez O, Cadilla CL.

Ophthalmic Genet. 2016;37(1):89-94. doi: 10.3109/13816810.2014.907920. Epub 2014 Apr 28.

13.

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.

Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.

14.

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
15.

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL.

J Invest Dermatol. 2006 Jan;126(1):85-90.

16.

Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.

Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y, Yoshino M, Hashimoto T.

J Dermatol Sci. 2004 Nov;36(2):106-8. No abstract available.

PMID:
15519141
17.

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.

Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J.

Hamostaseologie. 2014;34(4):301-9. doi: 10.5482/HAMO-14-06-0024. Epub 2014 Aug 13. Review.

PMID:
25117010
18.

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
19.

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).

Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL.

Blood. 2003 Jun 1;101(11):4402-7. Epub 2003 Feb 6.

20.

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

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