-
1
-
-
0001071459
-
Familial high density lipoprotein deficiency: Tangier disease
-
STRIVER C.R, BEAUDET A.L, SLY W.S, VALLE D, eds, 7th ed. New York: McGraw-Hill
-
ASSMAN G., VON ECKARDSTEIN A., BREWER H.B. Jr. Familial high density lipoprotein deficiency: Tangier disease. In: STRIVER C.R., BEAUDET A.L., SLY W.S., VALLE D. (eds.). The metabolic basis of inherited disease, II. 7th ed. New York: McGraw-Hill, 1995; 2053-2072.
-
(1995)
The metabolic basis of inherited disease, II
, pp. 2053-2072
-
-
ASSMAN, G.1
VON ECKARDSTEIN, A.2
BREWER Jr., H.B.3
-
2
-
-
0032813660
-
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
-
RUST S., ROSIER M., FUNKE H., REAL J., AMOURA Z., PIETTE J.C., DELEUZE J.F., BREWER H.B., DUVERGER N., DENEFLE P., ASSMANN G. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat. Genet., 1999, 22: 352-355.
-
(1999)
Nat. Genet
, vol.22
, pp. 352-355
-
-
RUST, S.1
ROSIER, M.2
FUNKE, H.3
REAL, J.4
AMOURA, Z.5
PIETTE, J.C.6
DELEUZE, J.F.7
BREWER, H.B.8
DUVERGER, N.9
DENEFLE, P.10
ASSMANN, G.11
-
3
-
-
0033576209
-
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
-
MARCIL M., BROOKS-WILSON A., CLEE S.M., ROOMP K., ZHANG L.H., YU L., COLLINS J.A., MOLHUIZEN H.O., LOUBSER O., OUELETTE B.F., FICHTER K., ASHBOURNE-EXCOFFON K.J., SENSEN C.W., SCHERER S., MOTT S., DENIS M., MARTINDALE D., FROHLICH J., MORGAN K., KOOP B., PIMSTONE S., KASTELEIN J.J., GENEST J. JR., HAYDEN M.R. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet, 1999, 354: 1341-1346.
-
(1999)
Lancet
, vol.354
, pp. 1341-1346
-
-
MARCIL, M.1
BROOKS-WILSON, A.2
CLEE, S.M.3
ROOMP, K.4
ZHANG, L.H.5
YU, L.6
COLLINS, J.A.7
MOLHUIZEN, H.O.8
LOUBSER, O.9
OUELETTE, B.F.10
FICHTER, K.11
ASHBOURNE-EXCOFFON, K.J.12
SENSEN, C.W.13
SCHERER, S.14
MOTT, S.15
DENIS, M.16
MARTINDALE, D.17
FROHLICH, J.18
MORGAN, K.19
KOOP, B.20
PIMSTONE, S.21
KASTELEIN, J.J.22
GENEST, J.J.23
HAYDEN, M.R.24
more..
-
4
-
-
0032725185
-
The tangler disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway
-
LAWN R.M., WADE D.P., GARVIN M.R., WANG X., SCHWARTZ K., PORTER J.G., SEILHAMMER J.J., VAUGHAN A.M., ORAM J.F. The tangler disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J. Clin. Invest., 1999, 104: R25-31.
-
(1999)
J. Clin. Invest
, vol.104
-
-
LAWN, R.M.1
WADE, D.P.2
GARVIN, M.R.3
WANG, X.4
SCHWARTZ, K.5
PORTER, J.G.6
SEILHAMMER, J.J.7
VAUGHAN, A.M.8
ORAM, J.F.9
-
5
-
-
0032813809
-
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
-
BODZIOCH M., ORSO E., KLUCKEN J., LANGMANN T., BOTTCHER A., DIEDERICH W., DROBNIK W., BARLAGE S., BÜCHLER C., PORCH-OZCURUMEZ M., KAMINSKI W.E., HAHMANN H.W., OETTE K., ROTHE G., ASLANIDIS C., LACKNER K.J., SCHMITZ G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat. Genet., 1999, 22: 347-351.
-
(1999)
Nat. Genet
, vol.22
, pp. 347-351
-
-
BODZIOCH, M.1
ORSO, E.2
KLUCKEN, J.3
LANGMANN, T.4
BOTTCHER, A.5
DIEDERICH, W.6
DROBNIK, W.7
BARLAGE, S.8
BÜCHLER, C.9
PORCH-OZCURUMEZ, M.10
KAMINSKI, W.E.11
HAHMANN, H.W.12
OETTE, K.13
ROTHE, G.14
ASLANIDIS, C.15
LACKNER, K.J.16
SCHMITZ, G.17
-
6
-
-
0027220960
-
Familial HDL deficiency due to marked hypercatabolism of normal apoA-I
-
EMMERICH J., VERGÈS B., TAUVERON I., RADER D., SANTAMARINA-FOJO S., SHAEFER J., AYRAULT-JARRIER M., THIEBOLT P., BREWER H.B. Jr. Familial HDL deficiency due to marked hypercatabolism of normal apoA-I. Arterioscler. Thromb., 1993, 13: 1299-1306.
-
(1993)
Arterioscler. Thromb
, vol.13
, pp. 1299-1306
-
-
EMMERICH, J.1
VERGÈS, B.2
TAUVERON, I.3
RADER, D.4
SANTAMARINA-FOJO, S.5
SHAEFER, J.6
AYRAULT-JARRIER, M.7
THIEBOLT, P.8
BREWER Jr., H.B.9
-
7
-
-
0028307614
-
Homozygous Tangier disease and cardiovascular disease
-
SERFATY-LACROSNIERE C., CIVEIRA F., LANZBERG A., ISAIA P., BERG J., JANUS E.D., SMITH M.P. JR., PRITCHARD P.H., FROCHLICH J., LEES R.S. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis, 1994, 107: 85-98.
-
(1994)
Atherosclerosis
, vol.107
, pp. 85-98
-
-
SERFATY-LACROSNIERE, C.1
CIVEIRA, F.2
LANZBERG, A.3
ISAIA, P.4
BERG, J.5
JANUS, E.D.6
SMITH, M.P.J.7
PRITCHARD, P.H.8
FROCHLICH, J.9
LEES, R.S.10
-
8
-
-
0028015886
-
Colonic mucosal appearance of Tangier disease in a new patient
-
BARNARD G.E, JAFRI I.H., BANNER B.F., BONKOVSKY H.L. Colonic mucosal appearance of Tangier disease in a new patient. Gastrointestinal Endoscopy, 1994, 40: 628-630.
-
(1994)
Gastrointestinal Endoscopy
, vol.40
, pp. 628-630
-
-
BARNARD, G.E.1
JAFRI, I.H.2
BANNER, B.F.3
BONKOVSKY, H.L.4
-
9
-
-
0028284703
-
Tangier disease: An unusual diagnosis for the endoscopist
-
FROSINI G., MARINI M., GALGANI P., CARNICELLI N., FARNETANI L., PETTORALI M. Tangier disease: an unusual diagnosis for the endoscopist. Endoscopy, 1994, 26: 373.
-
(1994)
Endoscopy
, vol.26
, pp. 373
-
-
FROSINI, G.1
MARINI, M.2
GALGANI, P.3
CARNICELLI, N.4
FARNETANI, L.5
PETTORALI, M.6
-
10
-
-
37149048727
-
Gastric mucosa appearance in a patient with Tangier disease
-
ESPINEL J., SUAREZ P., OLCOZ J.L., IZQUIERDO F.M. Gastric mucosa appearance in a patient with Tangier disease. Rev. Esp. Enferm. Dig., 2006, 98: 786-787.
-
(2006)
Rev. Esp. Enferm. Dig
, vol.98
, pp. 786-787
-
-
ESPINEL, J.1
SUAREZ, P.2
OLCOZ, J.L.3
IZQUIERDO, F.M.4
-
11
-
-
0000721275
-
Tangier disease
-
FREDRICKSON D.S., ALTROCCHI P.H., AVIOLI L.V., GOODMAN D.S., GOODMAN H.C. Tangier disease. Ann. Intern. Med., 1961, 55: 1016-1031.
-
(1961)
Ann. Intern. Med
, vol.55
, pp. 1016-1031
-
-
FREDRICKSON, D.S.1
ALTROCCHI, P.H.2
AVIOLI, L.V.3
GOODMAN, D.S.4
GOODMAN, H.C.5
-
12
-
-
0035097876
-
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts
-
HAIDAR B., MOTT S., BOUCHER B., YIN LEE C., MARCIL M., GENEST J. Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. J. Lipid. Res., 2001, 42: 249-257.
-
(2001)
J. Lipid. Res
, vol.42
, pp. 249-257
-
-
HAIDAR, B.1
MOTT, S.2
BOUCHER, B.3
YIN, L.C.4
MARCIL, M.5
GENEST, J.6
-
13
-
-
0022402383
-
Tangier disease. A histological and ultrastructural study
-
DECHELOTTE P., KANTELIP B., DE LAGUILLAUMIE B.V., LABBE A., MEYER M. Tangier disease. A histological and ultrastructural study. Pathol. Res. Pract., 1985, 180 (4): 424-430.
-
(1985)
Pathol. Res. Pract
, vol.180
, Issue.4
, pp. 424-430
-
-
DECHELOTTE, P.1
KANTELIP, B.2
DE LAGUILLAUMIE, B.V.3
LABBE, A.4
MEYER, M.5
-
14
-
-
0023904247
-
Multiple lipid islands of the colonic mucosa. A light and electron microscopic study
-
REMMELE W., BECK K., KAISERLING E. Multiple lipid islands of the colonic mucosa. A light and electron microscopic study. Pathol. Res. Pract., 1988, 183 (3): 336-346.
-
(1988)
Pathol. Res. Pract
, vol.183
, Issue.3
, pp. 336-346
-
-
REMMELE, W.1
BECK, K.2
KAISERLING, E.3
-
15
-
-
0022353570
-
Neuropathy in tangier disease, a clinico-pathological study and a review of the literature
-
PIETRINI V., RIZZUTO N., VERGANI C., ZEN F., FERRO MILONE F. Neuropathy in tangier disease, a clinico-pathological study and a review of the literature. Acta Neurol. Scand., 1985, 72: 495-505.
-
(1985)
Acta Neurol. Scand
, vol.72
, pp. 495-505
-
-
PIETRINI, V.1
RIZZUTO, N.2
VERGANI, C.3
ZEN, F.4
FERRO MILONE, F.5
|