-
1
-
-
0001652428
-
The bone marrow failure syndromes
-
Nathan DG, Orkin HS (eds). WB Saunders: Philadelphia
-
Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS (eds). Hematology of Infancy and Childhood. WB Saunders: Philadelphia, 1998, pp 237-335.
-
(1998)
Hematology of Infancy and Childhood
, pp. 237-335
-
-
Alter, B.P.1
Young, N.S.2
-
3
-
-
0035379611
-
The emerging genetic and molecular basis of Fanconi anaemia
-
Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2001; 2: 446-457.
-
(2001)
Nat. Rev. Genet.
, vol.2
, pp. 446-457
-
-
Joenje, H.1
Patel, K.J.2
-
4
-
-
0033000911
-
Fanconi anaemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex
-
Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD. Fanconi anaemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol 1999; 19: 4866-4873.
-
(1999)
Mol. Cell Biol.
, vol.19
, pp. 4866-4873
-
-
Garcia-Higuera, I.1
Kuang, Y.2
Naf, D.3
Wasik, J.4
D'Andrea, A.D.5
-
5
-
-
18444384217
-
FANCE: The link between Fanconi anaemia complex assembly and activity
-
Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M et al. FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J 2002; 21: 3414-3423.
-
(2002)
EMBO J.
, vol.21
, pp. 3414-3423
-
-
Pace, P.1
Johnson, M.2
Tan, W.M.3
Mosedale, G.4
Sng, C.5
Hoatlin, M.6
-
6
-
-
0035105291
-
Interaction of the Fanconi anaemia proteins and BRCA1 in a common pathway
-
Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J et al. Interaction of the Fanconi anaemia proteins and BRCA1 in a common pathway. Mol Cell 2001; 7: 249-262.
-
(2001)
Mol. Cell
, vol.7
, pp. 249-262
-
-
Garcia-Higuera, I.1
Taniguchi, T.2
Ganesan, S.3
Meyn, M.S.4
Timmers, C.5
Hejna, J.6
-
7
-
-
0034655991
-
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
-
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000; 14: 927-939.
-
(2000)
Genes Dev.
, vol.14
, pp. 927-939
-
-
Wang, Y.1
Cortez, D.2
Yazdi, P.3
Neff, N.4
Elledge, S.J.5
Qin, J.6
-
8
-
-
0037123768
-
Convergence of the Fanconi anaemia and ataxia telangiectasia signalling pathways
-
Taniguchi T, Garcia-Higuera I, Xu B, Andreassen PR, Gregory RC, Kim ST et al. Convergence of the Fanconi anaemia and ataxia telangiectasia signalling pathways. Cell 2002; 109: 459-472.
-
(2002)
Cell
, vol.109
, pp. 459-472
-
-
Taniguchi, T.1
Garcia-Higuera, I.2
Xu, B.3
Andreassen, P.R.4
Gregory, R.C.5
Kim, S.T.6
-
9
-
-
18444362122
-
Biallelic inactivation of BRCA2 in Fanconi anaemia
-
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, de Die-Smulders C et al. Biallelic inactivation of BRCA2 in Fanconi anaemia. Science 2002; 297: 606-609.
-
(2002)
Science
, vol.297
, pp. 606-609
-
-
Howlett, N.G.1
Taniguchi, T.2
Olson, S.3
Cox, B.4
Waisfisz, Q.5
de Die-Smulders, C.6
-
10
-
-
0035928799
-
New complexities for BRCA1 and BRCA2
-
Kerr P, Ashworth A. New complexities for BRCA1 and BRCA2. Curr Biol 2001; 11: R668-R676.
-
(2001)
Curr. Biol.
, vol.11
-
-
Kerr, P.1
Ashworth, A.2
-
11
-
-
0031949423
-
Allogeneic stem cell transplantation for Fanconi anaemia
-
Guardiola P, Socie G, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman M et al. Allogeneic stem cell transplantation for Fanconi anaemia. Bone Marrow Transplant 1998; 21(Suppl 2): 24-27.
-
(1998)
Bone Marrow Transplant.
, vol.21
, Issue.SUPPL. 2
, pp. 24-27
-
-
Guardiola, P.1
Socie, G.2
Pasquini, R.3
Dokal, I.4
Ortega, J.J.5
van Weel-Sipman, M.6
-
12
-
-
12944315003
-
Outcome of 69 allogeneic stem transplantations for Fanconi anaemia using HLA-matched unrelated donors: A study on behalf of the European Group for Blood and Marrow Transplantation
-
Guardiola Ph, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman, Marsh JC et al. Outcome of 69 allogeneic stem transplantations for Fanconi anaemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood 2000; 95: 422-429.
-
(2000)
Blood
, vol.95
, pp. 422-429
-
-
Guardiola, Ph.1
Pasquini, R.2
Dokal, I.3
Ortega, J.J.4
van Weel-Sipman, A.5
Marsh, J.C.6
-
13
-
-
0031436199
-
A fludarabinebased protocol for bone marrow transplantation in Fanconi's anaemia
-
Kapelushnik J, Or R, Slavin S, Nagler A. A fludarabinebased protocol for bone marrow transplantation in Fanconi's anaemia. Bone Marrow Transplant 1997; 20: 1109 1110.
-
(1997)
Bone Marrow Transplant.
, vol.20
-
-
Kapelushnik, J.1
Or, R.2
Slavin, S.3
Nagler, A.4
-
14
-
-
0034486116
-
Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts
-
Boulad F, Gillio A, Small TN, George D, Prasad V, Torok-Castanza J et al. Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts. Br J Haematol 2000; 111: 1153-1157.
-
(2000)
Br. J. Haematol.
, vol.111
, pp. 1153-1157
-
-
Boulad, F.1
Gillio, A.2
Small, T.N.3
George, D.4
Prasad, V.5
Torok-Castanza, J.6
-
15
-
-
0034894544
-
Unrelated cord blood transplantation in a Fanconi anaemia patient using fludarabine-based conditioning
-
de Medeiros CR, Silva LM, Pasquini R. Unrelated cord blood transplantation in a Fanconi anaemia patient using fludarabine-based conditioning. Bone Marrow Transplant 2001; 28: 110-112.
-
(2001)
Bone Marrow Transplant.
, vol.28
, pp. 110-112
-
-
de Medeiros, C.R.1
Silva, L.M.2
Pasquini, R.3
-
16
-
-
0035127488
-
Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation
-
McCloy M, Almeida A, Daly P, Vulliamy T, Roberts IA, Dokal I. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. Br J Haematol 2001; 112: 427-427.
-
(2001)
Br. J. Haematol.
, vol.112
, pp. 427
-
-
McCloy, M.1
Almeida, A.2
Daly, P.3
Vulliamy, T.4
Roberts, I.A.5
Dokal, I.6
-
17
-
-
0033588822
-
Engraftment of hematopoietic progenitor cells transduced with the Fanconi anaemia group C gene (FANCC)
-
Liu JM, Kim S, Read EJ, Futaki M, Dokal I, Carter CS et al. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anaemia group C gene (FANCC). Hum Gene Ther 1999; 10: 2337-2346.
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 2337-2346
-
-
Liu, J.M.1
Kim, S.2
Read, E.J.3
Futaki, M.4
Dokal, I.5
Carter, C.S.6
-
18
-
-
8944237010
-
Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group c mutations
-
Dokal I, Chase A, Morgan NV, Coulthard S, Hall G, Mathew CG et al. Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group c mutations. Br J Haematol 1996; 93: 813-816.
-
(1996)
Br. J. Haematol.
, vol.93
, pp. 813-816
-
-
Dokal, I.1
Chase, A.2
Morgan, N.V.3
Coulthard, S.4
Hall, G.5
Mathew, C.G.6
-
19
-
-
0032796554
-
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
-
Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME et al. Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet 1999; 22: 379-383.
-
(1999)
Nat. Genet.
, vol.22
, pp. 379-383
-
-
Waisfisz, Q.1
Morgan, N.V.2
Savino, M.3
de Winter, J.P.4
van Berkel, C.G.5
Hoatlin, M.E.6
-
20
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-779.
-
(2000)
Br. J. Haematol.
, vol.110
, pp. 768-779
-
-
Dokal, I.1
-
21
-
-
0031035442
-
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
-
Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C et al. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 1997; 60: 581-587.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 581-587
-
-
Devriendt, K.1
Matthijs, G.2
Legius, E.3
Schollen, E.4
Blockmans, D.5
van Geet, C.6
-
22
-
-
0030866294
-
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita
-
Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 1997; 90: 2213-2216.
-
(1997)
Blood
, vol.90
, pp. 2213-2216
-
-
Vulliamy, T.J.1
Knight, S.W.2
Dokal, I.3
Mason, P.J.4
-
23
-
-
0022477628
-
Assignment of the gene for dyskeratosis congenita to Xq28
-
Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 1986; 72: 348-351.
-
(1986)
Hum. Genet.
, vol.72
, pp. 348-351
-
-
Connor, J.M.1
Gatherer, D.2
Gray, F.C.3
Pirrit, L.A.4
Affara, N.A.5
-
24
-
-
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 PJ et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32-38.
-
(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.J.6
-
25
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999; 107: 335-339.
-
(1999)
Br. J. Haematol.
, vol.107
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
Aalfs, C.M.4
McMahon, C.5
Richmond, P.6
-
26
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402: 551-555.
-
(1999)
Nature
, vol.402
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
27
-
-
0037148271
-
Telomerase in the human organism
-
Collins K, Mitchell JR. Telomerase in the human organism. Oncogene 2002; 21: 564-579.
-
(2002)
Oncogene
, vol.21
, pp. 564-579
-
-
Collins, K.1
Mitchell, J.R.2
-
28
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mson PJ et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
-
(2001)
Nature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
Dearlove, A.4
Bessler, M.5
Mson, P.J.6
-
29
-
-
0035959968
-
Testing telomerase
-
Marciniak R, Guarente L. Testing telomerase. Nature 2001; 413: 370-373.
-
(2001)
Nature
, vol.413
, pp. 370-373
-
-
Marciniak, R.1
Guarente, L.2
-
30
-
-
0037157582
-
Association between aplastic anaemia and mutations in telomerase RNA
-
Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.
-
(2002)
Lancet
, vol.359
, pp. 2168-2170
-
-
Vulliamy, T.1
Marrone, A.2
Dokal, I.3
Mason, P.J.4
-
31
-
-
0036435057
-
A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
-
Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I. A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119: 765-768.
-
(2002)
Br. J. Haematol.
, vol.119
, pp. 765-768
-
-
Cossu, F.1
Vulliamy, T.J.2
Marrone, A.3
Badiali, M.4
Cao, A.5
Dokal, I.6
-
32
-
-
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 et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999; 21: 169-175.
-
(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
-
33
-
-
13044266374
-
Mutations in ribosomal protein S19 and Diamond Blackfan anaemia: Wide variations in phenotypic expression
-
Willig T-N, Dratchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U et al. Mutations in ribosomal protein S19 and Diamond Blackfan anaemia: wide variations in phenotypic expression. Blood 1999; 94: 4294 4306.
-
(1999)
Blood
, vol.94
, pp. 4294-4306
-
-
Willig, T.-N.1
Dratchinskaia, N.2
Dianzani, I.3
Ball, S.4
Niemeyer, C.5
Ramenghi, U.6
-
34
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard A, Aprikyan AG, Bos C, Bonilla MA et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
-
35
-
-
0033019932
-
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
-
Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Ggood RA et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999; 96: 3132-3136.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
Takada, H.4
Suminoe, A.5
Ggood, R.A.6
|