-
1
-
-
9344251085
-
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum
-
Alloisio N, Texier P, Denoroy L, Berger C, Miraglia del Giudice E, Perrotta S, Iolascon A, et al (1996) The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood 87:4433-4438
-
(1996)
Blood
, vol.87
, pp. 4433-4438
-
-
Alloisio, N.1
Texier, P.2
Denoroy, L.3
Berger, C.4
Miraglia Del Giudice, E.5
Perrotta, S.6
Iolascon, A.7
-
2
-
-
0017336450
-
Congenital dyserythropoietic anemia type I and II: Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis
-
Anselstetter V, Horstmann HJ, Heimpel H (1977) Congenital dyserythropoietic anemia type I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. Br J Haematol 35:209-217
-
(1977)
Br J Haematol
, vol.35
, pp. 209-217
-
-
Anselstetter, V.1
Horstmann, H.J.2
Heimpel, H.3
-
3
-
-
0014545231
-
Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: A typical congenital dyserythropoietic anemia
-
Crookston JH, Crookston MC, Burnie KL, Fracombe WH, Dacie JV, Davis H, Lewis SM (1969) Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: a typical congenital dyserythropoietic anemia. Br J Haematol 17:11-23
-
(1969)
Br J Haematol
, vol.17
, pp. 11-23
-
-
Crookston, J.H.1
Crookston, M.C.2
Burnie, K.L.3
Fracombe, W.H.4
Dacie, J.V.5
Davis, H.6
Lewis, S.M.7
-
4
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drout N, Vignal P, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drout, N.5
Vignal, P.6
Millasseau, P.7
-
5
-
-
0025607312
-
HEMPAS disease: Genetic defect of glycosilation
-
Fukuda MN (1990) HEMPAS disease: genetic defect of glycosilation. Glycobiology 1:9-15
-
(1990)
Glycobiology
, vol.1
, pp. 9-15
-
-
Fukuda, M.N.1
-
6
-
-
0023227217
-
Primary defect congenital dyserythropoietic anemia type II: Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N acteylglucosaminyltransferase II
-
Fukuda MN, Dell A, Scartezzini P (1987) Primary defect congenital dyserythropoietic anemia type II: failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N acteylglucosaminyltransferase II. J Biol Chem 262:7195-7199
-
(1987)
J Biol Chem
, vol.262
, pp. 7195-7199
-
-
Fukuda, M.N.1
Dell, A.2
Scartezzini, P.3
-
7
-
-
11944260919
-
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II (HEMPAS) caused by a gene defect encoding a mannosidase II
-
Fukuda MN, Masri KA, Dell A, Luzzatto L, Moremen KW (1990) Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II (HEMPAS) caused by a gene defect encoding a mannosidase II. Proc Natl Acad Sci USA 87:7443-7448
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 7443-7448
-
-
Fukuda, M.N.1
Masri, K.A.2
Dell, A.3
Luzzatto, L.4
Moremen, K.W.5
-
8
-
-
0028231090
-
The 1993-1994 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Samson D, et al (1994) The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Samson, D.7
-
9
-
-
0030321625
-
Congenital dyserythropoietic anemia type III: Molecular basis and clinical aspects
-
Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice E (1996) Congenital dyserythropoietic anemia type III: molecular basis and clinical aspects. Haematologica 81:543-559
-
(1996)
Haematologica
, vol.81
, pp. 543-559
-
-
Iolascon, A.1
D'Agostaro, G.2
Perrotta, S.3
Izzo, P.4
Tavano, R.5
Miraglia Del Giudice, E.6
-
10
-
-
85030305640
-
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II
-
in press
-
Iolascon A, Miraglia del Giudice E, Perrotta S, Granatiero M, Zelante L, Gasparini P. Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II. Blood (in press)
-
Blood
-
-
Iolascon, A.1
Miraglia Del Giudice, E.2
Perrotta, S.3
Granatiero, M.4
Zelante, L.5
Gasparini, P.6
-
11
-
-
0028869553
-
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-25
-
Lind L, Sandstrom H, Wahlin A, Eriksson M, Nilsson-Sojka B, Sikstrom C, Holmgren G, et al (1995) Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-25. Hum Mol Genet 4: 109-112
-
(1995)
Hum Mol Genet
, vol.4
, pp. 109-112
-
-
Lind, L.1
Sandstrom, H.2
Wahlin, A.3
Eriksson, M.4
Nilsson-Sojka, B.5
Sikstrom, C.6
Holmgren, G.7
-
12
-
-
0029559787
-
Molecular cloning and expression of cDNAs encoding human a-mannosidase II and a previously unrecognized a-mannosidase IIx isozyme
-
Misago M, Liao YF, Kudo S, Eto S, Mattei MG, Moremen KW, Fukuda MN (1995) Molecular cloning and expression of cDNAs encoding human a-mannosidase II and a previously unrecognized a-mannosidase IIx isozyme. Proc Natl Acad Sci USA 92:11766-11770
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 11766-11770
-
-
Misago, M.1
Liao, Y.F.2
Kudo, S.3
Eto, S.4
Mattei, M.G.5
Moremen, K.W.6
Fukuda, M.N.7
-
13
-
-
0026325913
-
Isolation, characterization and expression of cDNAs encoding murine a-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans
-
Moremen KW, Robbins PW (1991) Isolation, characterization and expression of cDNAs encoding murine a-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans. J Cell Biol 115:1521-1534
-
(1991)
J Cell Biol
, vol.115
, pp. 1521-1534
-
-
Moremen, K.W.1
Robbins, P.W.2
-
15
-
-
4243227931
-
Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3
-
Tamary H, Shalmon L, Shalev H, Halil A, Shaft D, Zoldan M, Resnitzky P, et al (1996) Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3. Blood 88 Suppl 1:144a
-
(1996)
Blood
, vol.88
, Issue.1 SUPPL.
-
-
Tamary, H.1
Shalmon, L.2
Shalev, H.3
Halil, A.4
Shaft, D.5
Zoldan, M.6
Resnitzky, P.7
-
16
-
-
0028980935
-
The human UDP-N-acetylglucosamine: A-6-D-mannoside-b-1,2-N-acetylglucosaminyltransferase gene (MGAT2): cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein
-
Tan J, D'Agostaro G, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, et al (1995) The human UDP-N-acetylglucosamine: a-6-D-mannoside-b-1,2-N-acetylglucosaminyltransferase gene (MGAT2): cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Eur J Biochem 231: 317-328
-
(1995)
Eur J Biochem
, vol.231
, pp. 317-328
-
-
Tan, J.1
D'Agostaro, G.2
Bendiak, B.3
Reck, F.4
Sarkar, M.5
Squire, J.A.6
Leong, P.7
-
17
-
-
0015253170
-
Congenital dyserythropoietic anemia type II: Ultrastructural and radioautographic studies of blood and bone marrow
-
Wong KY, Hug G, Lampkin BC (1972) Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. Blood 39: 23-30
-
(1972)
Blood
, vol.39
, pp. 23-30
-
-
Wong, K.Y.1
Hug, G.2
Lampkin, B.C.3
|