-
1
-
-
0001033529
-
Anaemia of infancy and early childhood
-
Josephs HW Anaemia of infancy and early childhood Medicine 1936 ; 15 : 307-451.
-
(1936)
Medicine
, vol.15
, pp. 307-451
-
-
Josephs, H.W.1
-
3
-
-
0029737830
-
Diamond-Blackfan anaemia in the UK : Analysis of 80 cases from a 20-year birth cohort
-
Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC Diamond-Blackfan anaemia in the UK : analysis of 80 cases from a 20-year birth cohort. Br J Haemotol 1996 ; 94 : 645-53.
-
(1996)
Br J Haemotol
, vol.94
, pp. 645-653
-
-
Ball, S.E.1
McGuckin, C.P.2
Jenkins, G.3
Gordon-Smith, E.C.4
-
4
-
-
0032723176
-
Identification of new prognosis factors from the clinical and epidemiological analysis of a registry of 229 Diamond-Blackfan anemia patients
-
Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, Lambiliotte A, Kohne E, Souillet G, Eber S, Stephan JL, Girot R, Bordigoni P, Cornu G, Blanche S, Guillard JM, Mohandas N, Tchernia G Identification of new prognosis factors from the clinical and epidemiological analysis of a registry of 229 Diamond-Blackfan anemia patients. Pediatr Res 1999 ; 46 : 553-61.
-
(1999)
Pediatr Res
, vol.46
, pp. 553-561
-
-
Willig, T.N.1
Niemeyer, C.M.2
Leblanc, T.3
Tiemann, C.4
Robert, A.5
Budde, J.6
Lambiliotte, A.7
Kohne, E.8
Souillet, G.9
Eber, S.10
Stephan, J.L.11
Girot, R.12
Bordigoni, P.13
Cornu, G.14
Blanche, S.15
Guillard, J.M.16
Mohandas, N.17
Tchernia, G.18
-
6
-
-
0024850413
-
Diamond-Blackfan anemia etiology, pathophysiology, and treatment
-
Halperin DS, Freedman MH Diamond-Blackfan anemia etiology, pathophysiology, and treatment Am J Pediatr Hematol/Oncol 1989 ; 11 : 380-94
-
(1989)
Am J Pediatr Hematol/Oncol
, vol.11
, pp. 380-394
-
-
Halperin, D.S.1
Freedman, M.H.2
-
7
-
-
0029940791
-
Diamond-Blackfan anemia Natural history and sequelae of treatment
-
Janov AJ, Leong T, Nathan DG, Guinan E Diamond-Blackfan anemia Natural history and sequelae of treatment Medicine 1996 ; 75 77-8
-
(1996)
Medicine
, vol.75
, pp. 77-78
-
-
Janov, A.J.1
Leong, T.2
Nathan, D.G.3
Guinan, E.4
-
8
-
-
0028825858
-
Is there a role for interleukin-3 in Diamond-Blackfan anaemia ? Results of a European multicentre study
-
Ball SE, Tchernia G, Wranne L, Bastion Y, Bekassy NA, Bordigoni P, Debré M, Elinder G, Kamps WA, Lanning M, Leblanc T, Makipernaa A Is there a role for interleukin-3 in Diamond-Blackfan anaemia ? Results of a European multicentre study Br J Haematol 1995 ; 91 : 313-8.
-
(1995)
Br J Haematol
, vol.91
, pp. 313-318
-
-
Ball, S.E.1
Tchernia, G.2
Wranne, L.3
Bastion, Y.4
Bekassy, N.A.5
Bordigoni, P.6
Debré, M.7
Elinder, G.8
Kamps, W.A.9
Lanning, M.10
Leblanc, T.11
Makipernaa, A.12
-
9
-
-
0028839578
-
High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone
-
Bernini JC, Carillo JM, Buchanan GR. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. J Pediatr 1995 ; 127 654-9
-
(1995)
J Pediatr
, vol.127
, pp. 654-659
-
-
Bernini, J.C.1
Carillo, J.M.2
Buchanan, G.R.3
-
10
-
-
0017166622
-
Diamond-Blackfan syndrome lymphocyte-mediated suppression of erythropotesis
-
Hoffman R, Zanjani ED, Vila J, Zalusky R, Lutton JD, Wasserrnan LR Diamond-Blackfan syndrome lymphocyte-mediated suppression of erythropotesis Science 1976 ; 193 : 899-900
-
(1976)
Science
, vol.193
, pp. 899-900
-
-
Hoffman, R.1
Zanjani, E.D.2
Vila, J.3
Zalusky, R.4
Lutton, J.D.5
Wasserrnan, L.R.6
-
11
-
-
0032522964
-
Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia
-
Hasegawa D, Kojima S, Tatsumi E, Hayakawa A, Kosaka Y, Nakamura H, Sako M, Osugi Y, Nagata S, Sana K. Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia Blood 1998 ; 91 2793-9
-
(1998)
Blood
, vol.91
, pp. 2793-2799
-
-
Hasegawa, D.1
Kojima, S.2
Tatsumi, E.3
Hayakawa, A.4
Kosaka, Y.5
Nakamura, H.6
Sako, M.7
Osugi, Y.8
Nagata, S.9
Sana, K.10
-
12
-
-
13344261960
-
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia
-
Dianzani I, Garelli E, Dompè C, Crescenzio N, Locatelli F, Schiliro G, Castaman G, Bagnara GP, Olivieri NF, Gabutti V, Ramenghi U. Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. Blood 1996 ; 87 : 2568-72
-
(1996)
Blood
, vol.87
, pp. 2568-2572
-
-
Dianzani, I.1
Garelli, E.2
Dompè, C.3
Crescenzio, N.4
Locatelli, F.5
Schiliro, G.6
Castaman, G.7
Bagnara, G.P.8
Olivieri, N.F.9
Gabutti, V.10
Ramenghi, U.11
-
13
-
-
0027302342
-
Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia
-
letter
-
Spritz RA, Freedman MH. Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia Blood 1993 ; 81 : 3165 (letter)
-
(1993)
Blood
, vol.81
, pp. 3165
-
-
Spritz, R.A.1
Freedman, M.H.2
-
14
-
-
0030716191
-
Diamond-Blackfan anemia : Expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q
-
Dianzani I, Garelli E, Crescenzio N, Timeus F, Mori PG, Varotto S, Nobili B, Brandalise S, Olivieri NF, Gabutti V, Ramenghi U Diamond-Blackfan anemia : expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q Exp Hematol 1997 ; 25 1270-7
-
(1997)
Exp Hematol
, vol.25
, pp. 1270-1277
-
-
Dianzani, I.1
Garelli, E.2
Crescenzio, N.3
Timeus, F.4
Mori, P.G.5
Varotto, S.6
Nobili, B.7
Brandalise, S.8
Olivieri, N.F.9
Gabutti, V.10
Ramenghi, U.11
-
15
-
-
0021149819
-
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diarnond syndrome)
-
Iriondo A, Ganjo J, Baro J, Conde E, Pastor JM, Sabanes A, Hermosa V, Sainz MC, Perez de la Lastro L, Zubizarretta A. Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diarnond syndrome). Blood 1984 ; 64 348-51
-
(1984)
Blood
, vol.64
, pp. 348-351
-
-
Iriondo, A.1
Ganjo, J.2
Baro, J.3
Conde, E.4
Pastor, J.M.5
Sabanes, A.6
Hermosa, V.7
Sainz, M.C.8
Perez De La Lastro, L.9
Zubizarretta, A.10
-
16
-
-
0028924937
-
Bone marrow transplantation for Diamond-Blackfan anemia
-
Mugishima H, Gale RP, Rowlings PA, Horowitz MM, Marmont AM, McCann SR, Sobocinski KA, Bortin MM. Bone marrow transplantation for Diamond-Blackfan anemia. Bone Marrow Transplant 1995 ; 15 : 55-8.
-
(1995)
Bone Marrow Transplant
, vol.15
, pp. 55-58
-
-
Mugishima, H.1
Gale, R.P.2
Rowlings, P.A.3
Horowitz, M.M.4
Marmont, A.M.5
McCann, S.R.6
Sobocinski, K.A.7
Bortin, M.M.8
-
17
-
-
0033016211
-
Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors
-
Santucci MA, Bagnara GP, Strippoli P, Bonsi L, Vitale I, Tonelli R, Locatelli F, Gabutti V, Ramenghi U, D'Avanzo M, Palucci G, Pession A, Freedman MH Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors Exp Hematol 1999 ; 27 : 9-18.
-
(1999)
Exp Hematol
, vol.27
, pp. 9-18
-
-
Santucci, M.A.1
Bagnara, G.P.2
Strippoli, P.3
Bonsi, L.4
Vitale, I.5
Tonelli, R.6
Locatelli, F.7
Gabutti, V.8
Ramenghi, U.9
D'Avanzo, M.10
Palucci, G.11
Pession, A.12
Freedman, M.H.13
-
18
-
-
0028358993
-
Age-related alterations in erythroid and granulopoietic progenitors in Diamond Blackfan anaemia
-
Casadevall N, Croisille L, Auffray I, Tcherma G, Coulombel L. Age-related alterations in erythroid and granulopoietic progenitors in Diamond Blackfan anaemia Br J Haematol 1994 ; 87 369-75
-
(1994)
Br J Haematol
, vol.87
, pp. 369-375
-
-
Casadevall, N.1
Croisille, L.2
Auffray, I.3
Tcherma, G.4
Coulombel, L.5
-
19
-
-
0028951418
-
Diamond-Blackfan anaemia . three patterns of in vitro response to haemopoietic growth factors
-
McGuckin CP, Ball SE, Gordon-Smith EC. Diamond-Blackfan anaemia . three patterns of in vitro response to haemopoietic growth factors. Br J Haematol 1995 ; 89 457-64
-
(1995)
Br J Haematol
, vol.89
, pp. 457-464
-
-
McGuckin, C.P.1
Ball, S.E.2
Gordon-Smith, E.C.3
-
20
-
-
0028118411
-
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis
-
Perdahl EB, Naprstek BL, Wallace WC, Lipton JM Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis Blood 1994 ; 83 : 645-50
-
(1994)
Blood
, vol.83
, pp. 645-650
-
-
Perdahl, E.B.1
Naprstek, B.L.2
Wallace, W.C.3
Lipton, J.M.4
-
21
-
-
0030923437
-
Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient
-
Zhang MY, Clawson GA, Olivieri NF, Bell LL, Begley CG, Miller BA Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient Blood 1997 ; 90 2068-74
-
(1997)
Blood
, vol.90
, pp. 2068-2074
-
-
Zhang, M.Y.1
Clawson, G.A.2
Olivieri, N.F.3
Bell, L.L.4
Begley, C.G.5
Miller, B.A.6
-
22
-
-
0031948545
-
Diamond-Blackfan anemia : Current concepts and issues
-
Willig TN, Ball SE, Tchernia G, and the Diamond-Blackfan study groups of The European society for paediatric haematology and immunology [ESPHI) and the Société française d'hématologie et d'immunologie pédiatrique (SHIP). Diamond-Blackfan anemia : current concepts and issues Curr Opin Hematol 1998 ; 5 109-15.
-
(1998)
Curr Opin Hematol
, vol.5
, pp. 109-115
-
-
Willig, T.N.1
Ball, S.E.2
Tchernia, G.3
-
23
-
-
0030921672
-
Diamond-Blackfan anemia in a girl with a de novo balanced reciprocal X; 19 translocation
-
Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N. Diamond-Blackfan anemia in a girl with a de novo balanced reciprocal X; 19 translocation J Med Genet 1997 ; 34 : 779-82
-
(1997)
J Med Genet
, vol.34
, pp. 779-782
-
-
Gustavsson, P.1
Skeppner, G.2
Johansson, B.3
Berg, T.4
Gordon, L.5
Kreuger, A.6
Dahl, N.7
-
24
-
-
0030814581
-
Diamond-Blackfan anaemia : Genetic homogeneity for a gene on chromosome 19q13 restricted to 1,8 Mb
-
Gustavsson P, Willig TN, van Haermgen A, Tchernia G, Dianzam I, Donner M, Elinder G, Henter JI, Nilsson PO, Skeppner G, Kreuger A, Dohl N. Diamond-Blackfan anaemia : genetic homogeneity for a gene on chromosome 19q13 restricted to 1,8 Mb. Nat Genet 1997 ; 16 : 368-71
-
(1997)
Nat Genet
, vol.16
, pp. 368-371
-
-
Gustavsson, P.1
Willig, T.N.2
Van Haermgen, A.3
Tchernia, G.4
Dianzam, I.5
Donner, M.6
Elinder, G.7
Henter, J.I.8
Nilsson, P.O.9
Skeppner, G.10
Kreuger, A.11
Dohl, N.12
-
25
-
-
0032231651
-
Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19q13 and evidence for genetic heterogeneity
-
Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnet H, Schafer F, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Gorince A, Olivieri N, Smibert E, Tchernia G, Elinder G, Dahl N. Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19q13 and evidence for genetic heterogeneity Am J Hum Genet 1998 ; 63 1388-95
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1388-1395
-
-
Gustavsson, P.1
Garelli, E.2
Draptchinskaia, N.3
Ball, S.4
Willig, T.N.5
Tentler, D.6
Dianzani, I.7
Punnet, H.8
Schafer, F.9
Cario, H.10
Ramenghi, U.11
Glomstein, A.12
Pfeiffer, R.A.13
Gorince, A.14
Olivieri, N.15
Smibert, E.16
Tchernia, G.17
Elinder, G.18
Dahl, N.19
-
26
-
-
0344861257
-
Diamond-Blackfan anemia is genetically heterogeneous
-
Gazda H, Lipton JM, Niemeyer C, Vlachos A, Rokicka-Milewska R, Ohara A, Ploszynska A, Webber A, Nathan DG, Beggs AH, Sieff C Diamond-Blackfan anemia is genetically heterogeneous Blood 1998 ; 92 [suppl. 1]: 16b
-
(1998)
Blood
, vol.92
, Issue.1 SUPPL.
-
-
Gazda, H.1
Lipton, J.M.2
Niemeyer, C.3
Vlachos, A.4
Rokicka-Milewska, R.5
Ohara, A.6
Ploszynska, A.7
Webber, A.8
Nathan, D.G.9
Beggs, A.H.10
Sieff, C.11
-
27
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
-
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Mattsson H, Tentler D, Mohandas N, Carlsson B, Dahl N The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia Nat Genet 1999 ; 21 169-75
-
(1999)
Nat Genet
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
Pettersson, M.4
Willig, T.N.5
Dianzani, I.6
Ball, S.7
Tchernia, G.8
Klar, J.9
Mattsson, H.10
Tentler, D.11
Mohandas, N.12
Carlsson, B.13
Dahl, N.14
-
28
-
-
13044266374
-
Mutations in ribosomal protein S19 and Diamond-Blackfan anemia wide variations in phenotypic expression
-
Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer CM, Ramenghi U, Orfali K, Gusfavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G Mutations in ribosomal protein S19 and Diamond-Blackfan anemia wide variations in phenotypic expression Blood 1999 ; 94 4294-306
-
(1999)
Blood
, vol.94
, pp. 4294-4306
-
-
Willig, T.N.1
Draptchinskaia, N.2
Dianzani, I.3
Ball, S.4
Niemeyer, C.M.5
Ramenghi, U.6
Orfali, K.7
Gusfavsson, P.8
Garelli, E.9
Brusco, A.10
Tiemann, C.11
Perignon, J.L.12
Bouchier, C.13
Cicchiello, L.14
Dahl, N.15
Mohandas, N.16
Tchernia, G.17
-
29
-
-
0021045343
-
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia
-
Glader BE, Backer K, Diamond LK Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 1983 ; 309 1486-90
-
(1983)
N Engl J Med
, vol.309
, pp. 1486-1490
-
-
Glader, B.E.1
Backer, K.2
Diamond, L.K.3
-
30
-
-
0023856229
-
Elevated red cell adenosine deaminase activity a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases
-
Glader BE, Backer K. Elevated red cell adenosine deaminase activity a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases Br J Haematol 1988 ; 68 : 165-8
-
(1988)
Br J Haematol
, vol.68
, pp. 165-168
-
-
Glader, B.E.1
Backer, K.2
-
31
-
-
0032400863
-
High adenosine deaminase level among healthy probands of Diamond-Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19ql3
-
Willig TN, Perignon JL, Gustavsson P, Gone P, Draptchinskaia N, Testard H, Girot R, Debre M, Stephan JL, Chenel C, Cartron JP, Dahl N, Tchernia G High adenosine deaminase level among healthy probands of Diamond-Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19ql3 Blood J 1998 ; 92 : 4422-7.
-
(1998)
Blood J
, vol.92
, pp. 4422-4427
-
-
Willig, T.N.1
Perignon, J.L.2
Gustavsson, P.3
Gone, P.4
Draptchinskaia, N.5
Testard, H.6
Girot, R.7
Debre, M.8
Stephan, J.L.9
Chenel, C.10
Cartron, J.P.11
Dahl, N.12
Tchernia, G.13
-
32
-
-
11244343044
-
Diamond-Blackfan anemia with mutations in RPS19 gene : A different pattern of in vitro erythroid differentiation ?
-
41st Annual meeting of the ASH, New-Orleans, Dec 3-7, 1999
-
Croisille L, Chiron M, Vainchenker W, Romeo PH, Rince P, Willig TN, Tchernia G. Diamond-Blackfan anemia with mutations in RPS19 gene : a different pattern of in vitro erythroid differentiation ? 41st Annual meeting of the ASH, New-Orleans, Dec 3-7, 1999 Blood 1999 ; 94 [suppl 1] 414a
-
(1999)
Blood
, vol.94
, Issue.1 SUPPL.
-
-
Croisille, L.1
Chiron, M.2
Vainchenker, W.3
Romeo, P.H.4
Rince, P.5
Willig, T.N.6
Tchernia, G.7
-
33
-
-
0028072743
-
Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidic sites
-
Wilson DM 3rd, Deutsch WA, Kelley MR Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidic sites J Biol Chem 1994 ; 269 25359-64.
-
(1994)
J Biol Chem
, vol.269
, pp. 25359-25364
-
-
Wilson III, D.M.1
Deutsch, W.A.2
Kelley, M.R.3
-
34
-
-
0026605203
-
Differential expression of S19 ribosomal protein, lammin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation
-
Kondoh N, Schweinfest CW, Henderson KW, Papas TS. Differential expression of S19 ribosomal protein, lammin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation Cancer Res 1992 ; 52 791-6
-
(1992)
Cancer Res
, vol.52
, pp. 791-796
-
-
Kondoh, N.1
Schweinfest, C.W.2
Henderson, K.W.3
Papas, T.S.4
-
35
-
-
0030023396
-
Monocyte chemotactic factor in rheumatoid arthritis synovial tissue probably a cross-linked derivative of S19 ribosomal protein
-
Nishiura H, Shibuya Y, Matsubara S, Tanase S, Kambara T, Yamamoto T Monocyte chemotactic factor in rheumatoid arthritis synovial tissue probably a cross-linked derivative of S19 ribosomal protein. J Biol Chem 1996 ; 271 878-82
-
(1996)
J Biol Chem
, vol.271
, pp. 878-882
-
-
Nishiura, H.1
Shibuya, Y.2
Matsubara, S.3
Tanase, S.4
Kambara, T.5
Yamamoto, T.6
-
36
-
-
0031805175
-
A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells
-
Horino K, Nishiura H, Ohsako T, Shibuya Y, Hiraoka T, Kitamura N, Yamamoto T A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells Lab Invest 1998 ; 78 603-17
-
(1998)
Lab Invest
, vol.78
, pp. 603-617
-
-
Horino, K.1
Nishiura, H.2
Ohsako, T.3
Shibuya, Y.4
Hiraoka, T.5
Kitamura, N.6
Yamamoto, T.7
-
37
-
-
0032482206
-
Altered cellular responses by varying expression of a ribosomal protein gene : Sequential coordination of enhancement and suppression of ribosomal protein S3a gene expression induces apoptosis
-
Noora H, Takai I, Adachi AA, Naora H Altered cellular responses by varying expression of a ribosomal protein gene : sequential coordination of enhancement and suppression of ribosomal protein S3a gene expression induces apoptosis J Cell Biol 1998 ; 141 741-53
-
(1998)
J Cell Biol
, vol.141
, pp. 741-753
-
-
Noora, H.1
Takai, I.2
Adachi, A.A.3
Naora, H.4
-
38
-
-
0032428151
-
Modeling stochastic gene expression : Implications for haploinsufficiency
-
Cook D, Gerber AN, Tapscott SJ. Modeling stochastic gene expression : implications for haploinsufficiency Proc Natl Acad Sc USA 1998 ; 95 : 15641-6.
-
(1998)
Proc Natl Acad Sc USA
, vol.95
, pp. 15641-15646
-
-
Cook, D.1
Gerber, A.N.2
Tapscott, S.J.3
-
39
-
-
0031613939
-
The minute genes in drosophila and their molecular functions
-
Lambertsson A The minute genes in drosophila and their molecular functions. Adv Genet 1998 ; 38 69-134.
-
(1998)
Adv Genet
, vol.38
, pp. 69-134
-
-
Lambertsson, A.1
-
40
-
-
0031971297
-
Ribosomal protein insufficiency and the minute syndrome in drosophila : A dose-response relationship
-
Saeboe-Larssen S, Lyamouri M, Merriam J, Oksvold MP, Lambertsson A Ribosomal protein insufficiency and the minute syndrome in drosophila : a dose-response relationship Genetics 1998 ; 148 1215-24
-
(1998)
Genetics
, vol.148
, pp. 1215-1224
-
-
Saeboe-Larssen, S.1
Lyamouri, M.2
Merriam, J.3
Oksvold, M.P.4
Lambertsson, A.5
-
41
-
-
0025633118
-
Homologous ribosomal protein genes on the human X and Y chromosomes : Escape from X inactivation and possible implications for Turner syndrome
-
Fischer EMC, Beer-Romero P, Brown LG, Ridley A, McNell JA, Lawrence JB, Willard HF, Bleber FR, Page DC. Homologous ribosomal protein genes on the human X and Y chromosomes : escape from X inactivation and possible implications for Turner syndrome. Cell 1990 ; 63 : 1205-18.
-
(1990)
Cell
, vol.63
, pp. 1205-1218
-
-
Fischer, E.M.C.1
Beer-Romero, P.2
Brown, L.G.3
Ridley, A.4
McNell, J.A.5
Lawrence, J.B.6
Willard, H.F.7
Bleber, F.R.8
Page, D.C.9
-
42
-
-
0027161001
-
Functional equivalence of human X-and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
-
Watanabe M, Zinn AR, Page DC, Nishimoto T Functional equivalence of human X-and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet 1993 ; 4 268-71.
-
(1993)
Nat Genet
, vol.4
, pp. 268-271
-
-
Watanabe, M.1
Zinn, A.R.2
Page, D.C.3
Nishimoto, T.4
-
43
-
-
0032424906
-
Dyskeratosis congenita (DC) registry identification of new features of DC
-
Knight S, Vulliamy T, Coppelstone A, Gluckman E, Mason P, Dokal I. Dyskeratosis congenita (DC) registry identification of new features of DC. Br J Haematol 1998 ; 103 990-6
-
(1998)
Br J Haematol
, vol.103
, pp. 990-996
-
-
Knight, S.1
Vulliamy, T.2
Coppelstone, A.3
Gluckman, E.4
Mason, P.5
Dokal, I.6
-
44
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason P, Poutska A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet 1998 ; 19 : 32-8
-
(1998)
Nat Genet
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
Klauck, S.M.4
Wiemann, S.5
Mason, P.6
Poutska, A.7
Dokal, I.8
-
45
-
-
0033541581
-
Dyskeratosis congenita : New clinical and molecular insights into ribosome function
-
McGrath JA Dyskeratosis congenita : new clinical and molecular insights into ribosome function. Lancet 1999 ; 353 1204-5
-
(1999)
Lancet
, vol.353
, pp. 1204-1205
-
-
McGrath, J.A.1
-
46
-
-
0001930891
-
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23 2-23 1 and for non-19q non-8p disease 41st annual of the ASH, New Orleans, 3-7 dec 1999
-
Gazda H, Lipton JM, Niemeyer C, Willig TN, Tchernia G, Narla M, Ploszynska A, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff C. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23 2-23 1 and for non-19q non-8p disease 41st annual of the ASH, New Orleans, 3-7 dec 1999 Blood 1999, 94 (suppl 1) : 673a
-
(1999)
Blood
, vol.94
, Issue.1 SUPPL.
-
-
Gazda, H.1
Lipton, J.M.2
Niemeyer, C.3
Willig, T.N.4
Tchernia, G.5
Narla, M.6
Ploszynska, A.7
Vlachos, A.8
Glader, B.E.9
Rokicka-Milewska, R.10
Ohara, A.11
Webber, A.12
Viskochil, D.H.13
Nathan, D.G.14
Beggs, A.H.15
Sieff, C.16
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