-
1
-
-
6444236367
-
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow; report of two cases with histochemical studies
-
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow; report of two cases with histochemical studies. Blood 14: 162-169, 1959.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
2
-
-
19244382144
-
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
-
Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338: 1258-1264, 1998.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1258-1264
-
-
Gahl, W.A.1
Brantly, M.2
Kaiser-Kupfer, M.I.3
-
3
-
-
0030292366
-
Protein trafficking violations
-
Ramsay M. Protein trafficking violations. Nat Genet 14: 242-245, 1996.
-
(1996)
Nat. Genet.
, vol.14
, pp. 242-245
-
-
Ramsay, M.1
-
4
-
-
0034641833
-
Genetic Defects of intracellular-membrane transport
-
Olkkonen VM, Ikonen E. Genetic Defects of intracellular-membrane transport. N Engl J Med 343: 1095-1104, 2000.
-
(2000)
N. Engl. J. Med.
, vol.343
, pp. 1095-1104
-
-
Olkkonen, V.M.1
Ikonen, E.2
-
5
-
-
0037087632
-
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
-
Zhang Q, Li W, Novak EK, Karim A, et al. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet 11: 697-706, 2002.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 697-706
-
-
Zhang, Q.1
Li, W.2
Novak, E.K.3
Karim, A.4
-
6
-
-
0036428014
-
The molecular machinery for the biogenesis of lysosome-related organelles: Lessons from Hermansky-Pudlak syndrome
-
Starcevic M, Nazarian R, Dell'Angelica EC. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Semin Cell Dev Biol 13: 271, 2002.
-
(2002)
Semin. Cell Dev. Biol.
, vol.13
, pp. 271
-
-
Starcevic, M.1
Nazarian, R.2
Dell'Angelica, E.C.3
-
7
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
-
Suzuki T, Zhang Q, Karim A, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30: 321-324, 2002.
-
(2002)
Nat. Genet.
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Zhang, Q.2
Karim, A.3
-
8
-
-
0036157244
-
Nonsense mutations in ADTB3A cause complete deficiency of the bete3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the bete3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 51 150-158, 2002.
-
(2002)
Pediatr. Res.
, vol.51
, pp. 150-158
-
-
Huizing, M.1
Scher, C.D.2
Strovel, E.3
-
9
-
-
0037312933
-
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
-
Zhang Q, Zhao B, Li W, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33: 145-153, 2003.
-
(2003)
Nat. Genet.
, vol.33
, pp. 145-153
-
-
Zhang, Q.1
Zhao, B.2
Li, W.3
-
10
-
-
0036493368
-
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to production and function of platelet dense granules, melanosomes, and lysosomes
-
Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99: 1651-1658, 2002.
-
(2002)
Blood
, vol.99
, pp. 1651-1658
-
-
Feng, L.1
Novak, E.K.2
Hartnell, L.M.3
Bonifacino, J.S.4
Collinson, L.M.5
Swank, R.T.6
-
11
-
-
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 35: 84-89, 2003.
-
(2003)
Nat. Genet.
, vol.35
, pp. 84-89
-
-
Li, W.1
Zhang, Q.2
Oiso, N.3
-
12
-
-
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 135: 774-780, 1999.
-
(1999)
Arch. Dermatol.
, vol.135
, pp. 774-780
-
-
Toro, J.1
Turner, M.2
Gahl, W.A.3
-
13
-
-
8844222210
-
Hermansky-Pudlak syndrome
-
(in Japanese)
-
Handa M. Hermansky-Pudlak syndrome. Nihon Kessen Shiketsu Gakkaishi 12: 223-230, 2001 (in Japanese).
-
(2001)
Nihon Kessen Shiketsu Gakkaishi
, vol.12
, pp. 223-230
-
-
Handa, M.1
-
14
-
-
0036783758
-
Hermansky-Pudlak syndrome: Radiography and CT of the chest compared with pulmonary function tests and genetic studies
-
Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: Radiography and CT of the chest compared with pulmonary function tests and genetic studies. Am J Roentgenol 179 887-892, 2002.
-
(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
-
15
-
-
0024338527
-
Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia
-
(in Japanese, Abstract in English)
-
Nakano H, Suzuki A, Tojima H, et al. Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia. Jpn J Thorac Dis 27: 842-847, 1989 (in Japanese, Abstract in English).
-
(1989)
Jpn. J. Thorac. Dis.
, vol.27
, pp. 842-847
-
-
Nakano, H.1
Suzuki, A.2
Tojima, H.3
-
16
-
-
0026348496
-
Pulmonary interstitial pneumonia in association with Hermansky-Pudlak syndrome
-
(in Japanese, Abstract in English)
-
Okano A, Sato A, Chida K, et al. Pulmonary interstitial pneumonia in association with Hermansky-Pudlak syndrome. Jpn J Thorac Dis 29: 1596-1602, 1991 (in Japanese, Abstract in English).
-
(1991)
Jpn. J. Thorac. Dis.
, vol.29
, pp. 1596-1602
-
-
Okano, A.1
Sato, A.2
Chida, K.3
-
17
-
-
0021256435
-
Hermansky-Pudlak syndrome and interstitial lung disease: Report of a case with lavage findings
-
White DA, Smith GJW, Cooper JAD, Glickstein M, Rankin JA. Hermansky-Pudlak syndrome and interstitial lung disease: Report of a case with lavage findings. Am Rev Respir Dis 130: 138-141, 1984.
-
(1984)
Am. Rev. Respir. Dis.
, vol.130
, pp. 138-141
-
-
White, D.A.1
Smith, G.J.W.2
Cooper, J.A.D.3
Glickstein, M.4
Rankin, J.A.5
-
18
-
-
8844261363
-
An autopsy case of Hermansky-Pudlak syndrome associated with aspergilloma and primary lung carcinoma; five-year observation
-
(in Japanese, Abstract)
-
Mimoto T, Ienaga H, Danbara T, et al. An autopsy case of Hermansky-Pudlak syndrome associated with aspergilloma and primary lung carcinoma; five-year observation. Jpn J Thorac Dis 26: 1230, 1988 (in Japanese, Abstract).
-
(1988)
Jpn. J. Thorac. Dis.
, vol.26
, pp. 1230
-
-
Mimoto, T.1
Ienaga, H.2
Danbara, T.3
-
19
-
-
8844274291
-
Hermansky-Pudlak syndrome
-
Kawai K, Ed. Yamanouchi Pharmaceutical Co., Tokyo (in Japanese)
-
Honma S, Zenda M, Uekusa T, et al. Hermansky-Pudlak syndrome. in: Idiopathic Interstitial Pneumonia and Related Diseases. Kawai K, Ed. Yamanouchi Pharmaceutical Co., Tokyo, 1995: 206-209 (in Japanese).
-
(1995)
Idiopathic Interstitial Pneumonia and Related Diseases
, pp. 206-209
-
-
Honma, S.1
Zenda, M.2
Uekusa, T.3
-
20
-
-
0036682444
-
Expression and alteration of ras and p53 proteins in patients with lung carcinoma accompanied by idiopathic pulmonary fibrosis
-
Takahashi T, Munakata M, Ohtsuka Y, et al. Expression and alteration of ras and p53 proteins in patients with lung carcinoma accompanied by idiopathic pulmonary fibrosis. Cancer 95: 624-633, 2002.
-
(2002)
Cancer
, vol.95
, pp. 624-633
-
-
Takahashi, T.1
Munakata, M.2
Ohtsuka, Y.3
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