-
1
-
-
6444236367
-
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow
-
Hermansky F., Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Blood 1959, 14:162-169.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
2
-
-
0034177476
-
Anew variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
-
Shotelersuk V., Dell'Angelica E.C., Hartnell L., Bonifacino J.S., Gahl W.A. Anew 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
Bonifacino, J.S.4
Gahl, W.A.5
-
3
-
-
0036376666
-
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
-
Gahl W.A., Brantly M., Troendle J., Avila N.A., Padua A., Montalvo C., et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002, 76:234-242.
-
(2002)
Mol Genet Metab
, vol.76
, pp. 234-242
-
-
Gahl, W.A.1
Brantly, M.2
Troendle, J.3
Avila, N.A.4
Padua, A.5
Montalvo, C.6
-
4
-
-
0035990977
-
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes
-
Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med 2002, 2:451-467.
-
(2002)
Curr Mol Med
, vol.2
, pp. 451-467
-
-
Huizing, M.1
Gahl, W.A.2
-
5
-
-
0037666799
-
Hermansky-Pudlak syndrome type4 (HPS-4): clinical and molecular characteristics
-
Anderson P.D., Huizing M., Claassen D.A., White J., Gahl W.A. Hermansky-Pudlak syndrome type4 (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
White, J.4
Gahl, W.A.5
-
6
-
-
33645057693
-
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
-
Wei M.L. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006, 19:19-42.
-
(2006)
Pigment Cell Res
, vol.19
, pp. 19-42
-
-
Wei, M.L.1
-
7
-
-
79958805251
-
ABLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9
-
Cullinane A.R., Curry J.A., Carmona-Rivera C., Summers C.G., Ciccone C., Cardillo N.D., et al. ABLOC-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
Summers, C.G.4
Ciccone, C.5
Cardillo, N.D.6
-
8
-
-
19244382144
-
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
-
Gahl W.A., Brantly M., Kaiser-Kupfer M.I., Iwata F., Hazelwood S., Shotelersuk V., et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). NEng J Med 1998, 338:1258-1264.
-
(1998)
NEng J Med
, vol.338
, pp. 1258-1264
-
-
Gahl, W.A.1
Brantly, M.2
Kaiser-Kupfer, M.I.3
Iwata, F.4
Hazelwood, S.5
Shotelersuk, V.6
-
9
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light ear gene
-
Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light ear gene. Nat Genet 2003, 30:321-324.
-
(2003)
Nat Genet
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
Karim, A.4
Novak, E.K.5
Sviderskaya, E.V.6
-
10
-
-
2442581122
-
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
-
Bachli E.B., Brack T., Eppler E., Stallmach T., Trüeb R.M., Huizing M., et al. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am J Med Genet A 2004, 127A:201-207.
-
(2004)
Am J Med Genet A
, vol.127 A
, pp. 201-207
-
-
Bachli, E.B.1
Brack, T.2
Eppler, E.3
Stallmach, T.4
Trüeb, R.M.5
Huizing, M.6
-
11
-
-
0034011982
-
Idiopathic pulmonary fibrosis: diagnosis and treatment: international consensus statement. American Thoracic Society (ATS), and European Respiratory Society (ERS)
-
Idiopathic pulmonary fibrosis: diagnosis and treatment: international consensus statement. American Thoracic Society (ATS), and European Respiratory Society (ERS). Am J Respir Crit Care Med 2000, 161:646-664.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, pp. 646-664
-
-
-
12
-
-
0025473671
-
Albinism and Hermansky-Pudlak syndrome in Puerto Rico
-
Witkop C.J., Nuñez Babcock M., Rao G.H., Gaudier F., Summers C.G., Shanahan F., et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990, 82:333-339.
-
(1990)
Bol Asoc Med P R
, vol.82
, pp. 333-339
-
-
Witkop, C.J.1
Nuñez Babcock, M.2
Rao, G.H.3
Gaudier, F.4
Summers, C.G.5
Shanahan, F.6
-
13
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
-
Huizing M., Helip-Wooley A., Westbroek W., Gunay-Aygun M., Gahl W.A. 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
Gunay-Aygun, M.4
Gahl, W.A.5
-
14
-
-
29244449301
-
Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3
-
Falcón-Pérez J.M., Nazarian R., Sabatti C., Dell'Angelica E.C. Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3. JCell Sci 2005, 118:5243-5255.
-
(2005)
JCell Sci
, vol.118
, pp. 5243-5255
-
-
Falcón-Pérez, J.M.1
Nazarian, R.2
Sabatti, C.3
Dell'Angelica, E.C.4
-
15
-
-
34347232717
-
Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis
-
Young L.R., Pasula R., Gulleman P.M., Deutsch G.H., McCormack F.X. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol 2007, 37:67-74.
-
(2007)
Am J Respir Cell Mol Biol
, vol.37
, pp. 67-74
-
-
Young, L.R.1
Pasula, R.2
Gulleman, P.M.3
Deutsch, G.H.4
McCormack, F.X.5
-
16
-
-
2642523674
-
Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice
-
Yoshioka Y., Kumasaka T., Ishidoh K., Kominami E., Mitani K., Hosokawa Y., et al. Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice. Pathol Int 2004, 54:322-331.
-
(2004)
Pathol Int
, vol.54
, pp. 322-331
-
-
Yoshioka, Y.1
Kumasaka, T.2
Ishidoh, K.3
Kominami, E.4
Mitani, K.5
Hosokawa, Y.6
-
17
-
-
77956633080
-
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia
-
Mahavadi P., Korfei M., Henneke I., Liebisch G., Schmitz G., Gochuico B.R., et al. Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. Am J Respir Crit Care Med 2010, 182:207-219.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 207-219
-
-
Mahavadi, P.1
Korfei, M.2
Henneke, I.3
Liebisch, G.4
Schmitz, G.5
Gochuico, B.R.6
-
18
-
-
33646574258
-
Pulmonary fibrosis in Hermansky-Pudlak syndrome: a case report and review
-
Pierson D.M., Ionescu D., Qing G., Yonan A.M., Parkinson K., Colby T.C., et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome: a case report and review. Respiration 2006, 73:382-395.
-
(2006)
Respiration
, vol.73
, pp. 382-395
-
-
Pierson, D.M.1
Ionescu, D.2
Qing, G.3
Yonan, A.M.4
Parkinson, K.5
Colby, T.C.6
-
19
-
-
79956266213
-
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis
-
O'Brien K., Troendle J., Gochuico B.R., Markello T.C., Salas J., Cardona H., et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011, 103:128-134.
-
(2011)
Mol Genet Metab
, vol.103
, pp. 128-134
-
-
O'Brien, K.1
Troendle, J.2
Gochuico, B.R.3
Markello, T.C.4
Salas, J.5
Cardona, H.6
-
20
-
-
25844502015
-
Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome
-
Lederer D.J., Kawut S.M., Sonett J.R., Vakiani E., Seward S.L., White J.G., et al. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. JHeart Lung Transplant 2005, 24:1697-1699.
-
(2005)
JHeart Lung Transplant
, vol.24
, pp. 1697-1699
-
-
Lederer, D.J.1
Kawut, S.M.2
Sonett, J.R.3
Vakiani, E.4
Seward, S.L.5
White, J.G.6
-
21
-
-
0036783758
-
Hermansky-Pudlak Syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies
-
Avila N.A., Brantly M., Premkumar A., Huizing M., Dwyer A., Gahl W.A. Hermansky-Pudlak Syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. Am J Roentgenol 2002, 179:887-892.
-
(2002)
Am J Roentgenol
, vol.179
, pp. 887-892
-
-
Avila, N.A.1
Brantly, M.2
Premkumar, A.3
Huizing, M.4
Dwyer, A.5
Gahl, W.A.6
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