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Items: 1 to 20 of 220

1.

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.

2.

A clinical variant of familial Hermansky-Pudlak syndrome.

Iannello S, Fabbri G, Bosco P, Cavaleri A, Cantarella S, Camuto M, Milazzo P, Romeo F, Belfiore F.

MedGenMed. 2003 Jan 27;5(1):3.

3.

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
4.

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG.

J AAPOS. 2013 Jun;17(3):334-6. doi: 10.1016/j.jaapos.2013.02.002. Epub 2013 Apr 19.

PMID:
23607980
5.

DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.

Wax JR, Rosengren S, Spector E, Gainey AJ, Ingardia CJ.

Am J Perinatol. 2001 May;18(3):159-61.

PMID:
11414528
6.

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA.

Am J Hum Genet. 1997 Nov;61(5):1088-94.

7.

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
8.

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.

9.

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, et al.

Bol Asoc Med P R. 1990 Aug;82(8):333-9.

PMID:
2261023
10.

Hermansky-Pudlak syndrome in a pregnant patient: a case report.

Harris-Glocker M, Thornburg LL, Pressman EK.

J Reprod Med. 2013 May-Jun;58(5-6):267-70.

PMID:
23763015
11.

Hermansky-Pudlak syndrome in pregnancy.

Spencer J, Rosengren S.

Am J Perinatol. 2009 Oct;26(9):617-9. doi: 10.1055/s-0029-1220777. Epub 2009 Apr 15.

PMID:
19370510
12.

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

Shotelersuk V, Gahl WA.

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

PMID:
9787100
13.

Hermansky-Pudlak syndrome (HPS). An epidemiologic study.

Witkop CJ, Almadovar C, Piñeiro B, Nuñez Babcock M.

Ophthalmic Paediatr Genet. 1990 Sep;11(3):245-50.

PMID:
2280982
14.

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
15.

Hermansky-Pudlak syndrome.

Krisp A, Hoffman R, Happle R, König A, Freyschmidt-Paul P.

Eur J Dermatol. 2001 Jul-Aug;11(4):372-3.

PMID:
11399548
16.
17.

[Albinism, thrombopathy, ceroid storage disease--Hermansky-Pudlak syndrome. Overview and description with immunodeficiency].

Berz F, Weiss M, Belohradsky BH.

Klin Padiatr. 1996 Mar-Apr;208(2):83-7. Review. German.

PMID:
8901188
18.

The Hermansky-Pudlak syndrome.

Brandt A, Offner F, Quatacker J, Phillipe J, Meire F.

Bull Soc Belge Ophtalmol. 1997;267:99-105.

PMID:
9745819
19.

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

Fukai K, Oh J, Frenk E, Almodóvar C, Spritz RA.

Hum Mol Genet. 1995 Sep;4(9):1665-9.

PMID:
8541858
20.

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA.

Mol Genet Metab. 1998 Jun;64(2):99-107.

PMID:
9705234

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