-
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 1959;14:162-169
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
2
-
-
0000189661
-
Albinism
-
Scriver CR, Beaudet AL, Sly WS, Valle DL, eds., New York: McGraw-Hill
-
Witkop CJ, Quevedo WC, Fitzpatrick TB, et al. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DL, eds. The metabolic basis of inherited disease, 6th ed., New York: McGraw-Hill. 1989:2905-2947
-
(1989)
The metabolic basis of inherited disease, 6th ed.
, pp. 2905-2947
-
-
Witkop, C.J.1
Quevedo, W.C.2
Fitzpatrick, T.B.3
-
3
-
-
0023485139
-
Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
-
Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987;26:305-311
-
(1987)
Am J Hematol
, vol.26
, pp. 305-311
-
-
Witkop, C.J.1
Krumwiede, M.2
Sedano, H.3
White, J.G.4
-
4
-
-
0018751404
-
Hermansky-Pudlak syndrome: Pulmonary manifestations of a ceroid storage disorder
-
Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder. Am J Med 1979;66:737-747
-
(1979)
Am J Med
, vol.66
, pp. 737-747
-
-
Garay, S.M.1
Gardella, J.E.2
Fazzini, E.P.3
Goldring, R.M.4
-
5
-
-
0028407912
-
Pathogenesis of pulmonary fibrosis: Platelet-derived growth factor precedes structural alterations in the Hermanksy-Pudlak syndrome
-
Harmon KR, Witkop CJ, White JG. et al. Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermanksy-Pudlak syndrome. J Lab Clin Med 1994;123:617-627
-
(1994)
J Lab Clin Med
, vol.123
, pp. 617-627
-
-
Harmon, K.R.1
Witkop, C.J.2
White, J.G.3
-
6
-
-
0018891352
-
Hermansky-Pudlak syndrome with granulomatous colitis
-
Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med 1980;92:20-23
-
(1980)
Ann Intern Med
, vol.92
, pp. 20-23
-
-
Schinella, R.A.1
Greco, M.A.2
Cobert, B.L.3
Denmark, L.W.4
Cox, R.P.5
-
7
-
-
0025765273
-
Hermansky-Pudlak syndrome with granulomatous colitis in children
-
Mahadeo R, Markowitz J, Fisher S, Daum F. Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr 1991;118:904-906
-
(1991)
J Pediatr
, vol.118
, pp. 904-906
-
-
Mahadeo, R.1
Markowitz, J.2
Fisher, S.3
Daum, F.4
-
8
-
-
0030293220
-
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
-
Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14:300-306
-
(1996)
Nat Genet
, vol.14
, pp. 300-306
-
-
Oh, J.1
Bailin, T.2
Fukai, K.3
-
9
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999;3:11-21
-
(1999)
Mol Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
Gahl, W.A.4
Bonifacino, J.S.5
-
10
-
-
0034928726
-
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, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001;28:376-380
-
(2001)
Nat Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
-
11
-
-
0025473671
-
Albinism and Hermansky-Pudlak syndrome in Puerto Rico
-
Witkop CJ, Nunez Babcock M, Rao GH, 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
Nunez Babcock, M.2
Rao, G.H.3
-
12
-
-
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, Bonifacino JS, Gahl WA. 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
Bonifacino, J.S.4
Gahl, W.A.5
-
13
-
-
0036157244
-
Nonsense mutations in ADTβ3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTβ3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 2002;51:150-158
-
(2002)
Pediatr Res
, vol.51
, pp. 150-158
-
-
Huizing, M.1
Scher, C.D.2
Strovel, E.3
-
14
-
-
0032191713
-
Hermansky-Pudlak syndrome: Models for intracellular vesicle formation
-
Shotelersuk V, Gahl WA, Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 1998;65:85-96
-
(1998)
Mol Genet Metab
, vol.65
, pp. 85-96
-
-
Shotelersuk, V.1
Gahl, W.A.2
-
15
-
-
0034331071
-
Hermansky-Pudlak syndrome and related disorders of organelle formation
-
Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000;1:823-835
-
(2000)
Traffic
, vol.1
, pp. 823-835
-
-
Huizing, M.1
Anikster, Y.2
Gahl, W.A.3
-
16
-
-
0034911704
-
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking
-
Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost 2001;86:233-245
-
(2001)
Thromb Haemost
, vol.86
, pp. 233-245
-
-
Huizing, M.1
Anikster, Y.2
Gahl, W.A.3
-
17
-
-
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 1998;338:1258-1264
-
(1998)
N Engl J Med
, vol.338
, pp. 1258-1264
-
-
Gahl, W.A.1
Brantly, M.2
Kaiser-Kupfer, M.I.3
-
18
-
-
0034112212
-
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism
-
Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology 2000;107:783-789
-
(2000)
Ophthalmology
, vol.107
, pp. 783-789
-
-
Iwata, F.1
Reed, G.F.2
Caruso, R.C.3
Kuehl, E.M.4
Gahl, W.A.5
Kaiser-Kupfer, M.I.6
-
19
-
-
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
-
20
-
-
0033957481
-
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1
-
Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000;117:129-136
-
(2000)
Chest
, vol.117
, pp. 129-136
-
-
Brantly, M.1
Avila, N.A.2
Shotelersuk, V.3
Lucero, C.4
Huizing, M.5
Gahl, W.A.6
-
21
-
-
0030979236
-
Olganization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene
-
Bailin T, Oh J, Feng GH, Fukai K, Spritz RA, Olganization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 1997;108:923-927
-
(1997)
J Invest Dermatol
, vol.108
, pp. 923-927
-
-
Bailin, T.1
Oh, J.2
Feng, G.H.3
Fukai, K.4
Spritz, R.A.5
-
22
-
-
0031657556
-
Three new mutations in a gene causing Hermansky-Pudlak syndrome: Clinical correlations
-
Shotelersuk V, Hazelwood S, Larson D, et al. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Gen Metab 1998;64:99-107
-
(1998)
Mol Gen Metab
, vol.64
, pp. 99-107
-
-
Shotelersuk, V.1
Hazelwood, S.2
Larson, D.3
-
23
-
-
17344369131
-
Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
-
Oh J, Ho L, Ala-Mello S, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998;62:593-598
-
(1998)
Am J Hum Genet
, vol.62
, pp. 593-598
-
-
Oh, J.1
Ho, L.2
Ala-Mello, S.3
-
24
-
-
0030782362
-
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
-
Hazelwood S, Shotelersuk V, Wildenberg SC, et al. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 1997;61:1099-1094
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1088-1094
-
-
Hazelwood, S.1
Shotelersuk, V.2
Wildenberg, S.C.3
-
25
-
-
0001104909
-
The measurement of interrater agreement
-
Fleiss JL, ed. New York: John Wiley & Sons
-
Fleiss JL. The measurement of interrater agreement. In: Fleiss JL, ed. Statistical methods for rates and proportions. New York: John Wiley & Sons, 1981:212-225
-
(1981)
Statistical methods for rates and proportions
, pp. 212-225
-
-
Fleiss, J.L.1
-
26
-
-
0031969501
-
Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: Radiologic-pathologic correlation
-
Shimizu K, Matsumoto T, Miura G, et al. Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation. J Comput Assist Tomogr 1998;22:249-251
-
(1998)
J Comput Assist Tomogr
, vol.22
, pp. 249-251
-
-
Shimizu, K.1
Matsumoto, T.2
Miura, G.3
-
27
-
-
0022571029
-
The Hermansky-Pudlak syndrome: Radiographic features
-
Leitman BS, Balthazar EJ, Garay SM, Naidich DP, McCauley DI. The Hermansky-Pudlak syndrome: radiographic features. Can Assoc Radiol J 1986;37:42-45
-
(1986)
Can Assoc Radiol J
, vol.37
, pp. 42-45
-
-
Leitman, B.S.1
Balthazar, E.J.2
Garay, S.M.3
Naidich, D.P.4
McCauley, D.I.5
-
28
-
-
0026643786
-
Fibrosing alveolitis: Chest radiography and CT as predictors of clinical and functional impairment at follow-up in 26 patients
-
Terriff BA, Kwan SY, Chan-Yeung MM, Muller NL. Fibrosing alveolitis: chest radiography and CT as predictors of clinical and functional impairment at follow-up in 26 patients. Radiology 1992;184:445-449
-
(1992)
Radiology
, vol.184
, pp. 445-449
-
-
Terriff, B.A.1
Kwan, S.Y.2
Chan-Yeung, M.M.3
Muller, N.L.4
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