-
1
-
-
0027445492
-
Fanconi's anemia and its variability
-
Alter BP. Fanconi's anemia and its variability. Br J Haematol 1993: 85: 9-14.
-
(1993)
Br J Haematol
, vol.85
, pp. 9-14
-
-
Alter, B.P.1
-
2
-
-
0024543636
-
International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity
-
Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 1989: 73: 391-396.
-
(1989)
Blood
, vol.73
, pp. 391-396
-
-
Auerbach, A.D.1
Rogatko, A.2
Schroeder-Kurth, T.M.3
-
3
-
-
0030023770
-
Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group
-
Joenje H. Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group. Hum Genet 1996: 97: 280-282.
-
(1996)
Hum Genet
, vol.97
, pp. 280-282
-
-
Joenje, H.1
-
4
-
-
8544271687
-
Fanconi anemia in Ashkenazi Jews
-
Kutler DI, Auerbach AD. Fanconi anemia in Ashkenazi Jews. Fam Cancer 2004: 3: 241-248.
-
(2004)
Fam Cancer
, vol.3
, pp. 241-248
-
-
Kutler, D.I.1
Auerbach, A.D.2
-
5
-
-
20944440508
-
A common Fanconi anemia mutation in black populations of sub-Saharan Africa
-
Morgan NV, Essop F, Demuth I et al. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 2005: 105: 3542-3544.
-
(2005)
Blood
, vol.105
, pp. 3542-3544
-
-
Morgan, N.V.1
Essop, F.2
Demuth, I.3
-
6
-
-
79953832617
-
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations
-
Castella M, Pujol R, Callén E et al. Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood 2011: 117: 3759-3769.
-
(2011)
Blood
, vol.117
, pp. 3759-3769
-
-
Castella, M.1
Pujol, R.2
Callén, E.3
-
7
-
-
0037265710
-
International Fanconi Anemia Registry. Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study
-
Auerbach AD, Greenbaum J, Pujara K et al. International Fanconi Anemia Registry. Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. Hum Mutat 2003: 21: 158-168.
-
(2003)
Hum Mutat
, vol.21
, pp. 158-168
-
-
Auerbach, A.D.1
Greenbaum, J.2
Pujara, K.3
-
8
-
-
0030695440
-
Sequence variation in the Fanconi anemia gene FAA
-
Levran O, Erlich T, Magdalena N et al. Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA 1997: 94: 13051-13056.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 13051-13056
-
-
Levran, O.1
Erlich, T.2
Magdalena, N.3
-
9
-
-
0034651233
-
The IVS4+4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients
-
Futaki M, Yamashita T, Yagasaki H et al. The IVS4+4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 2000: 95: 1493-1498.
-
(2000)
Blood
, vol.95
, pp. 1493-1498
-
-
Futaki, M.1
Yamashita, T.2
Yagasaki, H.3
-
10
-
-
0033025041
-
The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability
-
Tachibana A, Kato T, Ejima Y et al. The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Hum Mutat 1999: 13: 237-244.
-
(1999)
Hum Mutat
, vol.13
, pp. 237-244
-
-
Tachibana, A.1
Kato, T.2
Ejima, Y.3
-
11
-
-
10844222797
-
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population
-
Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Hum Mutat 2004: 24: 481-490.
-
(2004)
Hum Mutat
, vol.24
, pp. 481-490
-
-
Yagasaki, H.1
Hamanoue, S.2
Oda, T.3
Nakahata, T.4
Asano, S.5
Yamashita, T.6
-
12
-
-
18844479804
-
Two common founder mutations of the Fanconi anemia group G gene FANCG/XRCC9 in the Japanese population
-
Yagasaki H, Oda T, Adachi D et al. Two common founder mutations of the Fanconi anemia group G gene FANCG/XRCC9 in the Japanese population. Hum Mutat 2003: 21: 555-561.
-
(2003)
Hum Mutat
, vol.21
, pp. 555-561
-
-
Yagasaki, H.1
Oda, T.2
Adachi, D.3
-
13
-
-
77952674566
-
Pathophysiology and management of inherited bone marrow failure syndromes
-
Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010: 24: 101-122.
-
(2010)
Blood Rev
, vol.24
, pp. 101-122
-
-
Shimamura, A.1
Alter, B.P.2
-
14
-
-
0034069562
-
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
-
Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet 2000: 45: 159-166.
-
(2000)
J Hum Genet
, vol.45
, pp. 159-166
-
-
Yamada, T.1
Tachibana, A.2
Shimizu, T.3
Mugishima, H.4
Okubo, M.5
Sasaki, M.S.6
-
15
-
-
0033361938
-
High frequency of large intragenic deletions in the Fanconi anemia group A gene
-
Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999: 65: 1330-1341.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1330-1341
-
-
Morgan, N.V.1
Tipping, A.J.2
Joenje, H.3
Mathew, C.G.4
-
16
-
-
63449086355
-
Validation of Fanconi anemia complementation Group A assignment using molecular analysis
-
Moghrabi NN, Johnson MA, Yoshitomi MJ et al. Validation of Fanconi anemia complementation Group A assignment using molecular analysis. Genet Med 2009: 11: 183-192.
-
(2009)
Genet Med
, vol.11
, pp. 183-192
-
-
Moghrabi, N.N.1
Johnson, M.A.2
Yoshitomi, M.J.3
-
17
-
-
0034672154
-
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group
-
Faivre L, Guardiola P, Lewis C et al. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. Blood 2000: 96: 4064-4070.
-
(2000)
Blood
, vol.96
, pp. 4064-4070
-
-
Faivre, L.1
Guardiola, P.2
Lewis, C.3
-
18
-
-
0037441757
-
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
-
Kutler DI, Singh B, Satagopan J et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003: 101: 1249-1256.
-
(2003)
Blood
, vol.101
, pp. 1249-1256
-
-
Kutler, D.I.1
Singh, B.2
Satagopan, J.3
|