-
1
-
-
6444236367
-
Albinism associated with hemor-rhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
-
Hermansky F, Pudlak P. Albinism associated with hemor-rhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959;14:162-169.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
2
-
-
33644764019
-
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
-
Santiago Borrero PJ, Rodŕiguez-Pérez Y, Renta JY, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006; 126(1):85-90.
-
(2006)
J Invest Dermatol
, vol.126
, Issue.1
, pp. 85-90
-
-
Santiago Borrero, P.J.1
Rodŕiguez-Pérez, Y.2
Renta, J.Y.3
-
3
-
-
0034177476
-
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
-
Shotelersuk V, Dell'Angelica EC, Hartnell L, et al. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000; 108:423-427.
-
(2000)
Am J Med
, vol.108
, pp. 423-427
-
-
Shotelersuk, V.1
Dell'Angelica, E.C.2
Hartnell, L.3
-
5
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics
-
Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008;9: 359-386.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 359-386
-
-
Huizing, M.1
Helip-Wooley, A.2
Westbroek, W.3
-
6
-
-
0035150104
-
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melano-cytes
-
Huizing M, Sarangarajan R, Strovel E, et al. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melano-cytes. Mol Biol Cell 2001c;12:2075-2085.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 2075-2085
-
-
Huizing, M.1
Sarangarajan, R.2
Strovel, E.3
-
7
-
-
18744416639
-
Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
-
Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002;20:482.
-
(2002)
Hum Mutat
, vol.20
, pp. 482
-
-
Hermos, C.R.1
Huizing, M.2
Kaiser-Kupfer, M.I.3
Gahl, W.A.4
-
8
-
-
84870847242
-
Molecular determinants of platelet delta storage pool deficiencies: An update
-
Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: An update. Br J Haematol 2013;160(1):5-11.
-
(2013)
Br J Haematol
, vol.160
, Issue.1
, pp. 5-11
-
-
Masliah-Planchon, J.1
Darnige, L.2
Bellucci, S.3
-
9
-
-
48049098771
-
Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child
-
Lee AC, Poon KH, Lo WH, et al. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol 2008;14:2939-2941.
-
(2008)
World J Gastroenterol
, vol.14
, pp. 2939-2941
-
-
Lee, A.C.1
Poon, K.H.2
Lo, W.H.3
-
10
-
-
80052030733
-
The management of gastrointestinal disease in Hermansky-Pudlak syndrome
-
Mora AJ, Wolfsohn DM. The management of gastrointestinal disease in Hermansky-Pudlak syndrome. J Clin Gastroenterol 2011;45(8):700-702.
-
(2011)
J Clin Gastroenterol
, vol.45
, Issue.8
, pp. 700-702
-
-
Mora, A.J.1
Wolfsohn, D.M.2
-
12
-
-
79956266213
-
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis
-
O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011;103(2):128-134.
-
(2011)
Mol Genet Metab
, vol.103
, Issue.2
, pp. 128-134
-
-
O'Brien, K.1
Troendle, J.2
Gochuico, B.R.3
-
13
-
-
0032798812
-
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene
-
Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol 1999;135:774-780.
-
(1999)
Arch Dermatol
, vol.135
, pp. 774-780
-
-
Toro, J.1
Turner, M.2
Gahl, W.A.3
-
14
-
-
77955014478
-
Hermansky-Pudlak syndrome: The importance of molecular subtyping
-
Thielen N, Huizing M, Krabbe JG, et al. Hermansky-Pudlak syndrome: The importance of molecular subtyping. J Thromb Haemost 2010;8:1643-1645.
-
(2010)
J Thromb Haemost
, vol.8
, pp. 1643-1645
-
-
Thielen, N.1
Huizing, M.2
Krabbe, J.G.3
-
15
-
-
84883869225
-
Hermansky-pudlak syndrome
-
(Pagon RA Bird TD Dolan CR et al. Eds.); Seattle WA: University of Washington, [Last accessed 2 Nov 2012]
-
TM (Pagon RA, Bird TD, Dolan CR, et al., Eds.); Seattle, WA: University of Washington, 1993. Available at: http://www.ncbi.nlm.nih.gov/books/ NBK1287/[Last accessed 2 Nov 2012].
-
(1993)
TM
-
-
Gahl, W.A.1
Huizing, M.2
-
16
-
-
33745083115
-
Innate immunity defects in Hermansky-Pudlak type 2 syndrome
-
Fontana S, Parolini S, Vermi W, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006; 107:4857-4864.
-
(2006)
Blood
, vol.107
, pp. 4857-4864
-
-
Fontana, S.1
Parolini, S.2
Vermi, W.3
-
17
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
-
Suzuki T, Wei L, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30: 321-324.
-
(2002)
Nat Genet
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Wei, L.2
Zhang, Q.3
-
18
-
-
0034764945
-
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, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001a;69: 1022-1032.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1022-1032
-
-
Huizing, M.1
Anikster, Y.2
Fitzpatrick, D.L.3
-
19
-
-
1842588760
-
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
-
Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004;5:276-283.
-
(2004)
Traffic
, vol.5
, pp. 276-283
-
-
Di Pietro, S.M.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
20
-
-
0037666799
-
Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics
-
Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum Genet 2003;113:10-17.
-
(2003)
Hum Genet
, vol.113
, pp. 10-17
-
-
Anderson, P.D.1
Huizing, M.2
Claassen, D.A.3
-
21
-
-
4444367420
-
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
-
Huizing M, Hess R, Dorward H, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004;5:711-722.
-
(2004)
Traffic
, vol.5
, pp. 711-722
-
-
Huizing, M.1
Hess, R.2
Dorward, H.3
-
22
-
-
72749102947
-
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
-
December
-
Huizing M, Pederson B, Hess RA, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet 2009 December; 46(12):803-810.
-
(2009)
J Med Genet
, vol.46
, Issue.12
, pp. 803-810
-
-
Huizing, M.1
Pederson, B.2
Hess, R.A.3
-
23
-
-
0037008731
-
BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
-
Falcon-Perez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002;277: 28191-28199.
-
(2002)
J Biol Chem
, vol.277
, pp. 28191-28199
-
-
Falcon-Perez, J.M.1
Starcevic, M.2
Gautam, R.3
Dell'Angelica, E.C.4
-
24
-
-
0041854263
-
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
-
Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003;35:84-89.
-
(2003)
Nat Genet
, vol.35
, pp. 84-89
-
-
Li, W.1
Zhang, Q.2
Oiso, N.3
-
25
-
-
84865555197
-
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 (HPS-8)
-
Cullinane AR, Curry JA, Golas G, et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 (HPS-8). Pigment Cell Melanoma Res 2012;25:584-591.
-
(2012)
Pigment Cell Melanoma Res
, vol.25
, pp. 584-591
-
-
Cullinane, A.R.1
Curry, J.A.2
Golas, G.3
-
26
-
-
79958805251
-
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9
-
Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am J Hum Genet 2011;88:778-787.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 778-787
-
-
Cullinane, A.R.1
Curry, J.A.2
Carmona-Rivera, C.3
|