-
6
-
-
13344260008
-
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
-
(1996)
Journal of Clinical Investigations
, vol.97
, pp. 1570-1576
-
-
Barrientos, A.1
Volpini, V.2
Casademont, J.3
Genis, D.4
Manzanares, J.M.5
Ferrer, I.6
Corral, J.7
Cardellach, F.8
Urbano-Marquez, A.9
Estivill, X.10
Nunes, V.11
-
11
-
-
0032901850
-
Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations
-
(1999)
British Journal of Haematology
, vol.104
, pp. 97-99
-
-
Beris, P.1
Samii, K.2
Darbellay, R.3
Zoumbos, N.4
Tsoplou, P.5
Kour-Akli, A.6
Preud'homme, C.7
Fenaux, P.8
-
23
-
-
0032877032
-
Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis
-
(1999)
British Journal of Haematology
, vol.106
, pp. 752-755
-
-
Cazzola, M.1
Beguin, Y.2
Bergamaschi, G.3
Guarnone, R.4
Cerani, P.5
Barella, S.6
Cao, A.7
Galanello, R.8
-
27
-
-
0025196010
-
Widespread multi-tissue deletions of the mitochondrial genome in the Pear-son marrow-pancreas syndrome
-
(1990)
Journal of Pediatrics
, vol.117
, pp. 599-602
-
-
Cormier, V.1
Rotig, A.2
Quartino, A.R.3
Forni, G.L.4
Cerone, R.5
Maier, M.6
Saudubray, J.M.7
Munnich, A.8
-
30
-
-
0028148438
-
X-linked side-roblastic anemia: Identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley
-
(1994)
Blood
, vol.84
, pp. 3915-3924
-
-
Cotter, P.D.1
Rucknagel, D.L.2
Bishop, D.F.3
-
32
-
-
0025186871
-
Erythroid 5-aminolevulinate synthase is located on the X chromosome
-
(1990)
American Journal of Human Genetics
, vol.46
, pp. 107-111
-
-
Cox, T.C.1
Bawden, M.J.2
Abraham, N.G.3
Bottomley, S.S.4
May, B.K.5
Baker, E.6
Chen, L.Z.7
Sutherland, G.R.8
-
43
-
-
0032863499
-
Ineffective erythropoiesis in myelodysplastic syndromes: Correlation with Fas expression but not with lack of erythropoietin receptor signal transduction
-
(1999)
British Journal of Haematology
, vol.106
, pp. 464-473
-
-
Fontenay-Roupie, M.1
Bouscary, D.2
Guesnu, M.3
Picard, F.4
Melle, J.5
Lacombe, C.6
Gisselbrecht, S.7
Mayeux, P.8
Dreyfus, F.9
-
46
-
-
0034142678
-
From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes
-
(2000)
Leukemia Research
, vol.24
, pp. 141-151
-
-
Gattermann, N.1
-
48
-
-
0030001270
-
A heteroplasmic point mutation of mitochondrial tRNALeu (CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia
-
(1996)
British Journal of Haematology
, vol.93
, pp. 845-855
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.L.3
Berneburg, M.4
Heinisch, J.5
Wlaschek, M.6
Aul, C.7
Schneider, W.8
-
51
-
-
0034093932
-
Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia
-
(2000)
British Journal of Haematology
, vol.109
, pp. 658-660
-
-
Gonzalez, M.I.1
Caballero, D.2
Vazquez, L.3
Canizo, C.4
Hernandez, R.5
Lopez, C.6
Izarra, A.7
Arroyo, J.L.8
Gonzalez, M.9
Garcia, R.10
San Miguel, J.F.11
-
56
-
-
0033361879
-
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
-
(1999)
American Journal of Human Genetics
, vol.65
, pp. 1279-1290
-
-
Hardy, C.1
Khanim, F.2
Torres, R.3
Scott-Brown, M.4
Seller, A.5
Poulton, J.6
Collier, D.7
Kirk, J.8
Polymeropoulos, M.9
Latif, F.10
Barrett, T.11
-
59
-
-
2642686614
-
Treatment of anemia in myelodys-plastic syndromes with granulocyte colony-stimulating factor plus erythropoietin: Results from a randomized phase II study and long-term follow-up of 71 patients
-
(1998)
Blood
, vol.92
, pp. 68-75
-
-
Hellstrom-Lindberg, E.1
Ahlgren, T.2
Beguin, Y.3
Carlsson, M.4
Carneskog, J.5
Dahl, I.M.6
Dybedal, I.7
Grimfors, G.8
Kanter-Lewensohn, L.9
Linder, O.10
Luthman, M.11
Lofvenberg, E.12
Nilsson-Ehle, H.13
Samuelsson, J.14
Tangen, J.M.15
Winqvist, I.16
Oberg, G.17
Osterborg, A.18
Ost, A.19
-
62
-
-
0017294111
-
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyr-idoxine-responsive sideroblastic anemia
-
(1976)
Seminars in Hematology
, vol.13
, pp. 133-140
-
-
Hines, J.D.1
-
64
-
-
0028817474
-
Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome
-
(1995)
American Journal of Medical Genetics
, vol.55
, pp. 372-378
-
-
Inbal, A.1
Avissar, N.2
Shaklai, M.3
Kuritzky, A.4
Schejter, A.5
Ben-David, E.6
Shanske, S.7
Garty, B.Z.8
-
65
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
(1998)
Nature Genetics
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernal-Mizrachi, E.6
Mueckler, M.7
Marshall, H.8
Donis-Keller, H.9
Crock, P.10
Rogers, D.11
Mikuni, M.12
Kumashiro, H.13
Higashi, K.14
Sobue, G.15
Oka, Y.16
Permutt, M.A.17
-
93
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
(1979)
Journal of Pediatrics
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
Naiman, J.L.4
Windmiller, J.5
Lammi, A.T.6
Hoffman, R.7
Marsh, J.C.8
-
100
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
(1993)
Journal of Clinical Investigations
, vol.91
, pp. 1095-1098
-
-
Rotig, A.1
Cormier, V.2
Chatelain, P.3
Francois, R.4
Saudubray, J.M.5
Rustin, P.6
Munnich, A.7
-
106
-
-
0031616020
-
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
-
(1998)
Journal of Human Genetics
, vol.43
, pp. 115-122
-
-
Shimada, Y.1
Okuno, S.2
Kawai, A.3
Shinomiya, H.4
Saito, A.5
Suzuki, M.6
Omori, Y.7
Nishino, N.8
Kanemoto, N.9
Fujiwara, T.10
Horie, M.11
Takahashi, E.12
-
107
-
-
0034054939
-
Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes
-
Grupo Cooperativo Espanological de Citogenetica Hematologica
-
(2000)
The British Journal of Haematology
, vol.108
, pp. 346-356
-
-
Sole, F.1
Espinet, B.2
Sanz, G.F.3
Cervera, J.4
Calasanz, M.J.5
Luno, E.6
Prieto, F.7
Granada, I.8
Hernandez, J.M.9
Cigudosa, J.C.10
Diez, J.L.11
Bureo, E.12
Marques, M.L.13
Arranz, E.14
Rios, R.15
Martinez Climent, J.A.16
Vallespi, T.17
Florensa, L.18
Woessner, S.19
-
108
-
-
0031761895
-
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
-
(1998)
Human Molecular Genetics
, vol.7
, pp. 2021-2028
-
-
Strom, T.M.1
Hortnagel, K.2
Hofmann, S.3
Gekeler, F.4
Scharfe, C.5
Rabl, W.6
Gerbitz, K.D.7
Meitinger, T.8
-
109
-
-
0035283066
-
WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 477-484
-
-
Takeda, K.1
Inoue, H.2
Tanizawa, Y.3
Matsuzaki, Y.4
Oba, J.5
Watanabe, Y.6
Shinoda, K.7
Oka, Y.8
|