-
1
-
-
0036432768
-
Molecular basis of red cell membrane disorders
-
J. Delaunay Molecular basis of red cell membrane disorders Acta Haematol. 108 2002 210 218
-
(2002)
Acta Haematol.
, vol.108
, pp. 210-218
-
-
Delaunay, J.1
-
2
-
-
1942509531
-
Hereditary spherocytosis-Defects in proteins that connect the membrane skeleton to the lipid bilayer
-
S. Eber, and S.E. Lux Hereditary spherocytosis-Defects in proteins that connect the membrane skeleton to the lipid bilayer Semin. Hematol. 41 2004 118 141
-
(2004)
Semin. Hematol.
, vol.41
, pp. 118-141
-
-
Eber, S.1
Lux, S.E.2
-
4
-
-
2342609853
-
Update on the clinical spectrum and genetics of red blood cell membrane disorders
-
P.G. Gallagher Update on the clinical spectrum and genetics of red blood cell membrane disorders Curr. Hematol. Rep. 3 2004 85 91
-
(2004)
Curr. Hematol. Rep.
, vol.3
, pp. 85-91
-
-
Gallagher, P.G.1
-
5
-
-
0031453927
-
Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis
-
M. Lanciotti, P. Perutelli, A. Valetto, D. Di Martino, and P.G. Mori Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis Haematologica 82 1997 460 462
-
(1997)
Haematologica
, vol.82
, pp. 460-462
-
-
Lanciotti, M.1
Perutelli, P.2
Valetto, A.3
Di Martino, D.4
Mori, P.G.5
-
6
-
-
0034198572
-
Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis
-
Y.K. Lee, H.I. Cho, S.S. Park, Y.J. Lee, E. Ra, Y.H. Chang, M. Hur, H.Y. Shin, and H.S. Ahn Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis J. Korean Med. Sci. 15 2000 284 288
-
(2000)
J. Korean Med. Sci.
, vol.15
, pp. 284-288
-
-
Lee, Y.K.1
Cho, H.I.2
Park, S.S.3
Lee, Y.J.4
Ra, E.5
Chang, Y.H.6
Hur, M.7
Shin, H.Y.8
Ahn, H.S.9
-
7
-
-
0028064834
-
Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis
-
E. Miraglia del Giudice, A. Iolascon, L. Pinto, B. Nobili, and S. Perrotta Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis Br. J. Haematol. 88 1994 52 55
-
(1994)
Br. J. Haematol.
, vol.88
, pp. 52-55
-
-
Miraglia Del Giudice, E.1
Iolascon, A.2
Pinto, L.3
Nobili, B.4
Perrotta, S.5
-
8
-
-
0027321231
-
Combined ankyrin and spectrin deficiency in hereditary spherocytosis
-
A. Pekrun, S.W. Eber, A. Kuhlmey, and W. Schroter Combined ankyrin and spectrin deficiency in hereditary spherocytosis Ann. Hematol. 67 1993 89 93
-
(1993)
Ann. Hematol.
, vol.67
, pp. 89-93
-
-
Pekrun, A.1
Eber, S.W.2
Kuhlmey, A.3
Schroter, W.4
-
9
-
-
0033377235
-
Erythropoiesis: Hereditary spherocytosis in Greece: Collective data on a large number of patients
-
E. Premetis, A. Stamoulakatou, and D. Loukopoulos Erythropoiesis: hereditary spherocytosis in Greece: collective data on a large number of patients Hematology 4 1999 361 366
-
(1999)
Hematology
, vol.4
, pp. 361-366
-
-
Premetis, E.1
Stamoulakatou, A.2
Loukopoulos, D.3
-
10
-
-
0033782358
-
Erythroid membrane protein defects in hereditary spherocytosis. a study of 62 Spanish cases
-
M.P. Ricard, F. Gilsanz, and I. Millan Erythroid membrane protein defects in hereditary spherocytosis. A study of 62 Spanish cases Haematologica 85 2000 994 995
-
(2000)
Haematologica
, vol.85
, pp. 994-995
-
-
Ricard, M.P.1
Gilsanz, F.2
Millan, I.3
-
11
-
-
0028091593
-
Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil
-
S.T. Saad, F.F. Costa, D.L. Vicentim, T.S. Salles, and P.H. Pranke Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil Br. J. Haematol. 88 1994 295 299
-
(1994)
Br. J. Haematol.
, vol.88
, pp. 295-299
-
-
Saad, S.T.1
Costa, F.F.2
Vicentim, D.L.3
Salles, T.S.4
Pranke, P.H.5
-
12
-
-
0027490813
-
Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis
-
P. Savvides, O. Shalev, K.M. John, and S.E. Lux Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis Blood 82 1993 2953 2960
-
(1993)
Blood
, vol.82
, pp. 2953-2960
-
-
Savvides, P.1
Shalev, O.2
John, K.M.3
Lux, S.E.4
-
13
-
-
9144274341
-
Hereditary spherocytosis: Identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland
-
D.M. Boguslawska, E. Heger, A. Chorzalska, M. Nierzwicka, J. Holojda, A. Swiderska, A. Straburzynska, G. Pazdzior, M. Langner, and A.F. Sikorski Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland Ann. Hematol. 83 2004 28 33
-
(2004)
Ann. Hematol.
, vol.83
, pp. 28-33
-
-
Boguslawska, D.M.1
Heger, E.2
Chorzalska, A.3
Nierzwicka, M.4
Holojda, J.5
Swiderska, A.6
Straburzynska, A.7
Pazdzior, G.8
Langner, M.9
Sikorski, A.F.10
-
14
-
-
20244368825
-
Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis
-
S. Rocha, I. Rebelo, E. Costa, C. Catarino, L. Belo, E.M. Castro, J.M. Cabeda, J. Barbot, A. Quintanilha, and A. Santos-Silva Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis Eur. J. Haematol. 74 2005 374 380
-
(2005)
Eur. J. Haematol.
, vol.74
, pp. 374-380
-
-
Rocha, S.1
Rebelo, I.2
Costa, E.3
Catarino, C.4
Belo, L.5
Castro, E.M.6
Cabeda, J.M.7
Barbot, J.8
Quintanilha, A.9
Santos-Silva, A.10
-
15
-
-
0242551602
-
Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis
-
J.Y. Sanchez-Lopez, A.L. Camacho, M.T. Magana, B. Ibarra, and F.J. Perea Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis Blood Cells, Mol. Dis. 31 2003 357 359
-
(2003)
Blood Cells, Mol. Dis.
, vol.31
, pp. 357-359
-
-
Sanchez-Lopez, J.Y.1
Camacho, A.L.2
Magana, M.T.3
Ibarra, B.4
Perea, F.J.5
-
16
-
-
21344464960
-
Defects in ankyrin-based cellular pathways in metazoan physiology
-
P.J. Mohler, and V. Bennett Defects in ankyrin-based cellular pathways in metazoan physiology Front. Biosci. 10 2005 2832 2840
-
(2005)
Front. Biosci.
, vol.10
, pp. 2832-2840
-
-
Mohler, P.J.1
Bennett, V.2
-
17
-
-
0000589008
-
Of membrane stability and mosaics: The spectrin cytoskeleton
-
J. Hoffman J. Jamieson Oxford London
-
J.S. Morrow, D.L. Rimm, S.P. Kennedy, C.D. Cianci, J.H. Sinard, and S.A. Weed Of membrane stability and mosaics: the spectrin cytoskeleton J. Hoffman J. Jamieson Handbook of Physiology 1997 Oxford London 485 540
-
(1997)
Handbook of Physiology
, pp. 485-540
-
-
Morrow, J.S.1
Rimm, D.L.2
Kennedy, S.P.3
Cianci, C.D.4
Sinard, J.H.5
Weed, S.A.6
-
18
-
-
9044220232
-
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
-
S.W. Eber, J.M. Gonzalez, M.L. Lux, A.L. Scarpa, W.T. Tse, M. Dornwell, J. Herbers, W. Kugler, R. Ozcan, and A. Pekrun Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis Nat. Genet. 13 1996 214 218
-
(1996)
Nat. Genet.
, vol.13
, pp. 214-218
-
-
Eber, S.W.1
Gonzalez, J.M.2
Lux, M.L.3
Scarpa, A.L.4
Tse, W.T.5
Dornwell, M.6
Herbers, J.7
Kugler, W.8
Ozcan, R.9
Pekrun, A.10
-
19
-
-
0034540856
-
Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations
-
R.C. Leite, D.S. Basseres, J.S. Ferreira, F.L. Alberto, F.F. Costa, and S.T. Saad Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations Hum. Mutat. 16 2000 529
-
(2000)
Hum. Mutat.
, vol.16
, pp. 529
-
-
Leite, R.C.1
Basseres, D.S.2
Ferreira, J.S.3
Alberto, F.L.4
Costa, F.F.5
Saad, S.T.6
-
20
-
-
0035130741
-
Clinical and molecular evaluation of non-dominant hereditary spherocytosis
-
E. Miraglia del Giudice, B. Nobili, M. Francese, L. D'Urso, A. Iolascon, S. Eber, and S. Perrotta Clinical and molecular evaluation of non-dominant hereditary spherocytosis Br. J. Haematol. 112 2001 42 47
-
(2001)
Br. J. Haematol.
, vol.112
, pp. 42-47
-
-
Miraglia Del Giudice, E.1
Nobili, B.2
Francese, M.3
D'Urso, L.4
Iolascon, A.5
Eber, S.6
Perrotta, S.7
-
21
-
-
0035834679
-
Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression
-
P.G. Gallagher, D.E. Sabatino, D.S. Basseres, D.M. Nilson, C. Wong, A.P. Cline, L.J. Garrett, and D.M. Bodine Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression J. Biol. Chem. 276 2001 41683 41689
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 41683-41689
-
-
Gallagher, P.G.1
Sabatino, D.E.2
Basseres, D.S.3
Nilson, D.M.4
Wong, C.5
Cline, A.P.6
Garrett, L.J.7
Bodine, D.M.8
-
22
-
-
24144493044
-
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
-
P.G. Gallagher, D.G. Nilson, C. Wong, J.L. Weisbein, L.J. Garrett-Beal, S.W. Eber, and D.M. Bodine A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis Hum. Mol. Genet. 14 2005 2501 2509
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2501-2509
-
-
Gallagher, P.G.1
Nilson, D.G.2
Wong, C.3
Weisbein, J.L.4
Garrett-Beal, L.J.5
Eber, S.W.6
Bodine, D.M.7
-
23
-
-
27744554959
-
Hereditary spherocytosis mutations in an erythroid ankyrin insulator element are associated with gene silencing in vitro and promoter dysfunction in transgenic mice
-
R.I. Liem, N.E. Seidel, C. Wong, A.P. Cline, P.G. Gallagher, and D.M. Bodine Hereditary spherocytosis mutations in an erythroid ankyrin insulator element are associated with gene silencing in vitro and promoter dysfunction in transgenic mice Blood 102 2003 7a (suppl.)
-
(2003)
Blood
, vol.102
-
-
Liem, R.I.1
Seidel, N.E.2
Wong, C.3
Cline, A.P.4
Gallagher, P.G.5
Bodine, D.M.6
-
24
-
-
0035231586
-
Ankyrin gene mutations in Japanese patients with hereditary spherocytosis
-
H. Nakanishi, A. Kanzaki, A. Yawata, O. Yamada, and Y. Yawata Ankyrin gene mutations in Japanese patients with hereditary spherocytosis Int. J. Hematol. 73 2001 54 63
-
(2001)
Int. J. Hematol.
, vol.73
, pp. 54-63
-
-
Nakanishi, H.1
Kanzaki, A.2
Yawata, A.3
Yamada, O.4
Yawata, Y.5
-
25
-
-
0030995081
-
Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis
-
L. Morle, M. Bozon, N. Alloisio, A. Vallier, S. Hayette, O. Pascal, D. Monier, N. Philippe, B.G. Forget, and J. Delaunay Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis Am. J. Hematol. 54 1997 242 248
-
(1997)
Am. J. Hematol.
, vol.54
, pp. 242-248
-
-
Morle, L.1
Bozon, M.2
Alloisio, N.3
Vallier, A.4
Hayette, S.5
Pascal, O.6
Monier, D.7
Philippe, N.8
Forget, B.G.9
Delaunay, J.10
-
26
-
-
8044225939
-
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: Three new ANK1 variants: Ankyrins Bari, Napoli II and Anzio
-
J. Randon, E. Miraglia del Giudice, M. Bozon, S. Perrotta, M. De Vivo, A. Iolascon, J. Delaunay, and L. Morle Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio Br. J. Haematol. 96 1997 500 506
-
(1997)
Br. J. Haematol.
, vol.96
, pp. 500-506
-
-
Randon, J.1
Miraglia Del Giudice, E.2
Bozon, M.3
Perrotta, S.4
De Vivo, M.5
Iolascon, A.6
Delaunay, J.7
Morle, L.8
-
27
-
-
0034488335
-
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
-
P.G. Gallagher, J.D. Ferreira, F.F. Costa, S.T. Saad, and B.G. Forget A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis Br. J. Haematol. 111 2000 1190 1193
-
(2000)
Br. J. Haematol.
, vol.111
, pp. 1190-1193
-
-
Gallagher, P.G.1
Ferreira, J.D.2
Costa, F.F.3
Saad, S.T.4
Forget, B.G.5
-
28
-
-
1642476183
-
Disorders of the red blood cell membrane
-
R.I. Handin S.E. Lux T.P. Stossel 2nd ed. Lippincott Williams and Wilkins Philadelphia
-
L.D. Walensky, M. Narla, and S.E. Lux Disorders of the red blood cell membrane R.I. Handin S.E. Lux T.P. Stossel Blood: Principles and Practice of Hematology 2nd ed. 2003 Lippincott Williams and Wilkins Philadelphia 1709 1858
-
(2003)
Blood: Principles and Practice of Hematology
, pp. 1709-1858
-
-
Walensky, L.D.1
Narla, M.2
Lux, S.E.3
-
29
-
-
0029980108
-
Ankyrin Napoli: A de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis
-
E. Miraglia del Giudice, S. Hayette, M. Bozon, S. Perrotta, N. Alloisio, A. Vallier, A. Iolascon, J. Delaunay, and L. Morle Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis Br. J. Haematol. 93 1996 828 834
-
(1996)
Br. J. Haematol.
, vol.93
, pp. 828-834
-
-
Miraglia Del Giudice, E.1
Hayette, S.2
Bozon, M.3
Perrotta, S.4
Alloisio, N.5
Vallier, A.6
Iolascon, A.7
Delaunay, J.8
Morle, L.9
-
30
-
-
0344580043
-
High frequency of frameshift/nonsense mutations of ankyrin-1 in Czech patients with dominant hereditary spherocytosis (DHS)
-
R. Ozcan, P. Jarolim, V. Brabec, S.E. Lux, and S.W. Eber High frequency of frameshift/nonsense mutations of ankyrin-1 in Czech patients with dominant hereditary spherocytosis (DHS) Blood 88 1996 5a
-
(1996)
Blood
, vol.88
-
-
Ozcan, R.1
Jarolim, P.2
Brabec, V.3
Lux, S.E.4
Eber, S.W.5
-
31
-
-
0034136236
-
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
-
Y. Yawata, A. Kanzaki, A. Yawata, W. Doerfler, R. Ozcan, and S.W. Eber Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population Int. J. Hematol. 71 2000 118 135
-
(2000)
Int. J. Hematol.
, vol.71
, pp. 118-135
-
-
Yawata, Y.1
Kanzaki, A.2
Yawata, A.3
Doerfler, W.4
Ozcan, R.5
Eber, S.W.6
-
32
-
-
0042662884
-
Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis
-
R. Ozcan, P. Jarolim, S.E. Lux, E. Ungewickell, and S.W. Eber Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis Br. J. Haematol. 122 2003 669 677
-
(2003)
Br. J. Haematol.
, vol.122
, pp. 669-677
-
-
Ozcan, R.1
Jarolim, P.2
Lux, S.E.3
Ungewickell, E.4
Eber, S.W.5
-
33
-
-
0342430428
-
Ankyrin Prague: A dominantly inherited mutation of the regulatory domain of ankyrin associated with hereditary spherocytosis
-
P. Jarolim, V. Brabec, S. Lambert, S.C. Liu, Z. Zhou, and J. Palek Ankyrin Prague: a dominantly inherited mutation of the regulatory domain of ankyrin associated with hereditary spherocytosis Blood 76 1990 37a
-
(1990)
Blood
, vol.76
-
-
Jarolim, P.1
Brabec, V.2
Lambert, S.3
Liu, S.C.4
Zhou, Z.5
Palek, J.6
-
34
-
-
0031924304
-
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis
-
S. Hayette, G. Carre, M. Bozon, N. Alloisio, P. Maillet, R. Wilmotte, O. Pascal, J. Reynaud, O. Reman, and J.L. Stephan Two distinct truncated variants of ankyrin associated with hereditary spherocytosis Am. J. Hematol. 58 1998 36 41
-
(1998)
Am. J. Hematol.
, vol.58
, pp. 36-41
-
-
Hayette, S.1
Carre, G.2
Bozon, M.3
Alloisio, N.4
Maillet, P.5
Wilmotte, R.6
Pascal, O.7
Reynaud, J.8
Reman, O.9
Stephan, J.L.10
-
35
-
-
0028925242
-
A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis
-
P. Jarolim, H.L. Rubin, V. Brabec, and J. Palek A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis J. Clin. Invest. 95 1995 941 947
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 941-947
-
-
Jarolim, P.1
Rubin, H.L.2
Brabec, V.3
Palek, J.4
|