-
1
-
-
0030879690
-
Dyserythropoiesis and congenital dyserythropoietic anemias
-
Wickramasinghe SN. Dyserythropoiesis and congenital dyserythropoietic anemias. Br J Haematol 1997; 99: 785-797.
-
(1997)
Br. J. Haematol.
, vol.99
, pp. 785-797
-
-
Wickramasinghe, S.N.1
-
2
-
-
0030844426
-
Nonhaematological traits associated with congenital dyserythropoietic anaemia type 1: A new entity emerging
-
Sabry MA, Zaki M, Al Awadi SA, Al Saleh Q, Mattar MS. Nonhaematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. Clin Dysmorphol 1997; 6: 205-212.
-
(1997)
Clin. Dysmorphol.
, vol.6
, pp. 205-212
-
-
Sabry, M.A.1
Zaki, M.2
Al Awadi, S.A.3
Al Saleh, Q.4
Mattar, M.S.5
-
3
-
-
13344282062
-
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I
-
Tamary H, Shalev H, Luria D, Shaft D, Zoldan M, Shalmon L et al. Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. Blood 1996; 87: 1763-1770.
-
(1996)
Blood
, vol.87
, pp. 1763-1770
-
-
Tamary, H.1
Shalev, H.2
Luria, D.3
Shaft, D.4
Zoldan, M.5
Shalmon, L.6
-
4
-
-
0030670587
-
Neonatal manifestations of congenital dyserythropoietic anemia type I
-
Shalev H, Tamary H, Shaft D, Reznitsky P, Zaizov R. Neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr 1997; 131: 95-97.
-
(1997)
J. Pediatr.
, vol.131
, pp. 95-97
-
-
Shalev, H.1
Tamary, H.2
Shaft, D.3
Reznitsky, P.4
Zaizov, R.5
-
5
-
-
0036270213
-
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults
-
Shalev H, Kapelushnik Y, Haeskelzon L, Degani O, Kransnov T, Sphilberg O et al. Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. Eur J Haematol 2002; 68: 170-174.
-
(2002)
Eur. J. Haematol.
, vol.68
, pp. 170-174
-
-
Shalev, H.1
Kapelushnik, Y.2
Haeskelzon, L.3
Degani, O.4
Kransnov, T.5
Sphilberg, O.6
-
6
-
-
0033836114
-
Severe congenital dyserythropoietic anemia type I: Prenatal management, transfusion support and alpha-interferon therapy
-
Parez N, Dommergues M, Zupan V, Chambost H, Fieshi JB, Delaunay J et al. Severe congenital dyserythropoietic anemia type I: prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol 2000; 110: 420-423.
-
(2000)
Br. J. Haematol.
, vol.110
, pp. 420-423
-
-
Parez, N.1
Dommergues, M.2
Zupan, V.3
Chambost, H.4
Fieshi, J.B.5
Delaunay, J.6
-
7
-
-
0033926189
-
Congenital dyserythropoietic anemia type I presenting as pulmonary hypertension of the newborn
-
Shalev H, Moser A, Kapelushnik J, Karplus M, Zucker N, Yaniv I et al. Congenital dyserythropoietic anemia type I presenting as pulmonary hypertension of the newborn. J Pediatr 2000; 136: 553-555.
-
(2000)
J. Pediatr.
, vol.136
, pp. 553-555
-
-
Shalev, H.1
Moser, A.2
Kapelushnik, J.3
Karplus, M.4
Zucker, N.5
Yaniv, I.6
-
8
-
-
0028934962
-
Alpha-interferon therapy for congenital dyserythropoiesis type I
-
Lavabre-Bertrand T, Blanc P, Navarro R, Sagroun M, Vannereau H, Braun M et al. Alpha-interferon therapy for congenital dyserythropoiesis type I. Br J Haematol 1995; 89: 929-932.
-
(1995)
Br. J. Haematol.
, vol.89
, pp. 929-932
-
-
Lavabre-Bertrand, T.1
Blanc, P.2
Navarro, R.3
Sagroun, M.4
Vannereau, H.5
Braun, M.6
-
9
-
-
0036693856
-
Congenital dyserythropoietic anemia, type 1 in a polynesian patient: Response to interferon α2b
-
Roda L, Pashe J, Fournier A, Terorotua V, Wickramasinghe SN, Tamary H et al. Congenital dyserythropoietic anemia, type 1 in a polynesian patient: response to interferon α2b. J Pediatr Hematol Oncol 2002; 24: 503-507.
-
(2002)
J. Pediatr. Hematol. Oncol.
, vol.24
, pp. 503-507
-
-
Roda, L.1
Pashe, J.2
Fournier, A.3
Terorotua, V.4
Wickramasinghe, S.N.5
Tamary, H.6
-
10
-
-
17344369480
-
Localization of the gene for congenital dyserythropoietic anemia type 1 to a <1-cM interval on chromosome 15q15.1-15.3
-
Tamary H, Shalmon L, Shalev H, Hali A, Dobrushin D, Ashkenazi N et al. Localization of the gene for congenital dyserythropoietic anemia type 1 to a <1-cM interval on chromosome 15q15.1-15.3. Am J Hum Genet 1998; 62: 1062-1069.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1062-1069
-
-
Tamary, H.1
Shalmon, L.2
Shalev, H.3
Hali, A.4
Dobrushin, D.5
Ashkenazi, N.6
-
11
-
-
0036918345
-
Congenital dyserythropoietic anemia is caused by mutations in codanin-1
-
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H et al. Congenital dyserythropoietic anemia is caused by mutations in codanin-1. Am J Hum Genet 2002; 71: 1467-1474.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1467-1474
-
-
Dgany, O.1
Avidan, N.2
Delaunay, J.3
Krasnov, T.4
Shalmon, L.5
Shalev, H.6
-
12
-
-
12944257431
-
Geographic distribution of CDA-II: Did a founder operate in Southern Italy?
-
Iolascon A, Servedio V, Carbone R, Totaro A, Carelle M, Perrotta S et al. Geographic distribution of CDA-II: did a founder operate in Southern Italy? Haematologica 2000; 85: 470-474.
-
(2000)
Haematologica.
, vol.85
, pp. 470-474
-
-
Iolascon, A.1
Servedio, V.2
Carbone, R.3
Totaro, A.4
Carelle, M.5
Perrotta, S.6
-
13
-
-
0035883041
-
Natural history of congenital dyserythropoietic anemia type II
-
Iolascon A, Delaunay J, Sunitha N, Wickramasinghe SN, Perrotta S, Gigante M et al. Natural history of congenital dyserythropoietic anemia type II. Blood 2001; 98: 1258-1260.
-
(2001)
Blood
, vol.98
, pp. 1258-1260
-
-
Iolascon, A.1
Delaunay, J.2
Sunitha, N.3
Wickramasinghe, S.N.4
Perrotta, S.5
Gigante, M.6
-
14
-
-
0034871051
-
Congenital disorders involving defective N-glycosylation of proteins
-
Schachter H. Congenital disorders involving defective N-glycosylation of proteins. Cell Mol Life Sci 2001; 58: 1085-1104.
-
(2001)
Cell Mol. Life Sci.
, vol.58
, pp. 1085-1104
-
-
Schachter, H.1
-
15
-
-
10744220216
-
Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation
-
Heimpel H, Anselsetter V, Chrobak I, Denecke J, Ensiedler B, Gallmeier K et al. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood 2003; 102: 4576-4581.
-
(2003)
Blood
, vol.102
, pp. 4576-4581
-
-
Heimpel, H.1
Anselsetter, V.2
Chrobak, I.3
Denecke, J.4
Ensiedler, B.5
Gallmeier, K.6
-
16
-
-
16944367512
-
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11,2 by genomewide search
-
Gasparini P, del Giudice EM, Delaunay J, Totaro A, Granatiero M, Melchionda S et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11,2 by genomewide search. Am J Hum Genet 1997; 61: 1112-1116.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1112-1116
-
-
Gasparini, P.1
del Giudice, E.M.2
Delaunay, J.3
Totaro, A.4
Granatiero, M.5
Melchionda, S.6
-
17
-
-
0033943506
-
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)
-
Perrotta S, Miraglia del Giudice E, Carbone R, Servedio V, Schettini F, Nobili B et al. Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). J Pediatr 2000; 136: 556-559.
-
(2000)
J. Pediatr.
, vol.136
, pp. 556-559
-
-
Perrotta, S.1
Miraglia del Giudice, E.2
Carbone, R.3
Servedio, V.4
Schettini, F.5
Nobili, B.6
-
18
-
-
0035134171
-
Bone marrow transplantation in case of severe, type II congenital dyserythropoietic anemia
-
Iolascon A, Sabato V, Mattia D, Locatelli F. Bone marrow transplantation in case of severe, type II congenital dyserythropoietic anemia. Bone Marrow transplant 2001; 27: 213-215.
-
(2001)
Bone Marrow Transplant
, vol.27
, pp. 213-215
-
-
Iolascon, A.1
Sabato, V.2
Mattia, D.3
Locatelli, F.4
-
19
-
-
0033862186
-
Congenital dyserythropoietic anemia type III
-
Sandström H, Wahlin A. Congenital dyserythropoietic anemia type III. Haematologica 2000; 85: 753-757.
-
(2000)
Haematologica.
, vol.85
, pp. 753-757
-
-
Sandström, H.1
Wahlin, A.2
-
20
-
-
0030863614
-
Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III)
-
Sandström H, Wahlin A, Eriksson M, Holmgren G, Lind L, Sandgren O. Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III). Br J Haematol 1997; 98: 845-849.
-
(1997)
Br. J. Haematol.
, vol.98
, pp. 845-849
-
-
Sandström, H.1
Wahlin, A.2
Eriksson, M.3
Holmgren, G.4
Lind, L.5
Sandgren, O.6
-
21
-
-
0028869553
-
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25
-
Lind L, Sandström H, Wahlin A, Eriksson M, Nilsson-Sojka B, Silkström C et al. Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. Hum Mal Genet 1995; 4: 109-112.
-
(1995)
Hum. Mal. Genet.
, vol.4
, pp. 109-112
-
-
Lind, L.1
Sandström, H.2
Wahlin, A.3
Eriksson, M.4
Nilsson-Sojka, B.5
Silkström, C.6
-
22
-
-
85047695184
-
Chronic recurrent multifocal osteomyelitis (CRMO): Evidence for a susceptibility gene located on chromosome 18q21.3-18q22
-
Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T et al. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 2002; 10: 217-221.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 217-221
-
-
Golla, A.1
Jansson, A.2
Ramser, J.3
Hellebrand, H.4
Zahn, R.5
Meitinger, T.6
-
23
-
-
0035213576
-
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. Report of a new family and review
-
Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. Report of a new family and review. Eur J Pediatr 2001; 160: 705-710.
-
(2001)
Eur. J. Pediatr.
, vol.160
, pp. 705-710
-
-
Majeed, H.A.1
Al-Tarawna, M.2
El-Shanti, H.3
Kamel, B.4
Al-Khalaileh, F.5
-
24
-
-
0034099058
-
Dyserythropoiesis associated with a fas-deficient condition in childhood
-
Bader-Meunier B, Rieux-Laucat F, Croisille L, Yvart J, Mielot F, Dommergues JP et al. Dyserythropoiesis associated with a fas-deficient condition in childhood. Br J Haematol 2000; 108: 300-304.
-
(2000)
Br. J. Haematol.
, vol.108
, pp. 300-304
-
-
Bader-Meunier, B.1
Rieux-Laucat, F.2
Croisille, L.3
Yvart, J.4
Mielot, F.5
Dommergues, J.P.6
-
25
-
-
0027980006
-
A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype
-
[In(a-b-), Co(a-b-)]
-
Parsons SF, Jones J, Anstee DJ, Judson PA, Gardner B, Wiener E et al. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. Blood 1994; 83: 860-868.
-
(1994)
Blood
, vol.83
, pp. 860-868
-
-
Parsons, S.F.1
Jones, J.2
Anstee, D.J.3
Judson, P.A.4
Gardner, B.5
Wiener, E.6
-
26
-
-
0028234051
-
Refractory anaemia and mitochondrial cytopathy in childhood
-
Bader-Meunier B, Rotig A, Mielot F, Lavergne JM, Croisille L, Rustin P et al. Refractory anaemia and mitochondrial cytopathy in childhood. Br J Haematol 1994; 87: 381-385.
-
(1994)
Br. J. Haematol.
, vol.87
, pp. 381-385
-
-
Bader-Meunier, B.1
Rotig, A.2
Mielot, F.3
Lavergne, J.M.4
Croisille, L.5
Rustin, P.6
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