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Items: 1 to 20 of 159

1.

[Hermansky-Pudlak syndrome in a Valais village].

Lattion F, Schneider P, Da Prada M, Lorez HP, Richards JG, Picotti GB, Frenck E.

Helv Paediatr Acta. 1983 Dec;38(5-6):495-512. French.

PMID:
6668200
2.

Hermansky-Pudlak syndrome: a clinicopathologic study.

Schinella RA, Greco MA, Garay SM, Lackner H, Wolman SR, Fazzini EP.

Hum Pathol. 1985 Apr;16(4):366-76.

PMID:
3980007
3.

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome.

Witkop CJ, Krumwiede M, Sedano H, White JG.

Am J Hematol. 1987 Dec;26(4):305-11.

PMID:
3120578
4.

The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes.

Gerritsen SM, Akkerman JW, Nijmeijer B, Sixma JJ, Witkop CJ, White J.

Scand J Haematol. 1977 Mar;18(3):249-56.

PMID:
847398
5.

[Hermansky-Pudlak syndrome].

Schallreuter KU.

Hautarzt. 1989 Mar;40(3):130-3. Review. German.

PMID:
2654078
6.

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome.

Frenk E, Lattion F.

J Invest Dermatol. 1982 Feb;78(2):141-3.

7.

Platelet functions and ultrastructure in the Hermanský-Pudlák syndrome.

Cieslar P, Hermanský F, Smetana K, Prokes J.

Folia Haematol Int Mag Klin Morphol Blutforsch. 1974;101(4):553-61. No abstract available.

PMID:
4139074
8.

Hermansky-Pudlak syndrome in a Swiss population.

Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM.

Dermatology. 1993;187(4):248-56.

PMID:
8274781
9.

Hermansky-Pudlak syndrome in pregnancy: two case studies.

Reiss RE, Copel JA, Roberts NS, Hobbins JC.

Am J Obstet Gynecol. 1985 Nov 1;153(5):564-5.

PMID:
4061519
10.

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Kinnear PE, Tuddenham EG.

Br J Ophthalmol. 1985 Dec;69(12):904-8.

11.

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
12.

Hermansky-Pudlak syndrome with granulomatous colitis.

Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP.

Ann Intern Med. 1980 Jan;92(1):20-3.

PMID:
7350869
13.

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
14.

[Gray-platelet syndrome associated with Marfan disease in a Mexican family].

Martínez-Murillo C, Payns Borrego E, Arzate Hernández G, Soriano Rosas J, Ambriz Fernández R, Marín Palomares T, Quintana González S.

Sangre (Barc). 1994 Aug;39(4):287-91. Spanish.

PMID:
7985059
15.

Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA).

White JG, Gerrard JM, Rao GH, Edson JR, Witkop CJ.

Thromb Diath Haemorrh. 1975 Sep 30;34(1):360-1. No abstract available.

PMID:
1188821
16.

[A case of "storage-pool disease" associated with albinism (Hermansky-Pudlak syndrome) (author's transl)].

Mori K, Yoda B, Sakai H, Goto Y.

Nihon Ketsueki Gakkai Zasshi. 1978 Oct;41(5):992-9. Japanese. No abstract available.

PMID:
735709
17.

Studies of platelets in a variant of the Hermansky-Pudlak syndrome.

White JG, Edson JR, Desnick SJ, Witkop CJ Jr.

Am J Pathol. 1971 May;63(2):319-32. No abstract available.

18.

Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings.

Husain S, Marsh E, Saenz-Santamaria MC, McNutt NS.

J Cutan Pathol. 1998 Aug;25(7):380-5.

PMID:
9765024
19.

Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Fagadau WR, Heinemann MH, Cotlier E.

Int Ophthalmol. 1981 Aug;4(1-2):113-22.

PMID:
7298260
20.

[Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia].

Nakano H, Suzuki A, Tojima H, Imahashi M, Kashiyama T, Watanabe A, Mizuguchi K, Kanai T, Shinozaki H, Kamei K, et al.

Nihon Kyobu Shikkan Gakkai Zasshi. 1989 Jul;27(7):842-7. Japanese.

PMID:
2810974

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