-
1
-
-
0024436330
-
Conservation of the human telomere sequence (TTAGGG)n among vertebrates
-
J. Meyne, R.L. Ratliff, and R.K. Moyzis Conservation of the human telomere sequence (TTAGGG)n among vertebrates Proc Natl Acad Sci USA 86 18 1989 7049 7053
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, Issue.18
, pp. 7049-7053
-
-
Meyne, J.1
Ratliff, R.L.2
Moyzis, R.K.3
-
2
-
-
0025115349
-
Structure and variability of human chromosome ends
-
T. de Lange, L. Shiue, and R.M. Myers et al. Structure and variability of human chromosome ends Mol Cell Biol 10 2 1990 518 527
-
(1990)
Mol Cell Biol
, vol.10
, Issue.2
, pp. 518-527
-
-
De Lange, T.1
Shiue, L.2
Myers, R.M.3
-
3
-
-
0030731928
-
Normal human chromosomes have long G-rich telomeric overhangs at one end
-
W.E. Wright, V.M. Tesmer, K.E. Huffman, S.D. Levene, and J.W. Shay Normal human chromosomes have long G-rich telomeric overhangs at one end Genes Dev 11 21 1997 2801 2809
-
(1997)
Genes Dev
, vol.11
, Issue.21
, pp. 2801-2809
-
-
Wright, W.E.1
Tesmer, V.M.2
Huffman, K.E.3
Levene, S.D.4
Shay, J.W.5
-
4
-
-
23044500389
-
POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end
-
D. Hockemeyer, A.J. Sfeir, J.W. Shay, W.E. Wright, and T. de Lange POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end EMBO J 24 14 2005 2667 2678
-
(2005)
EMBO J
, vol.24
, Issue.14
, pp. 2667-2678
-
-
Hockemeyer, D.1
Sfeir, A.J.2
Shay, J.W.3
Wright, W.E.4
De Lange, T.5
-
5
-
-
0015844590
-
A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon
-
A.M. Olovnikov A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon J Theor Biol 41 1 1973 181 190
-
(1973)
J Theor Biol
, vol.41
, Issue.1
, pp. 181-190
-
-
Olovnikov, A.M.1
-
6
-
-
0015515155
-
Origin of concatemeric T7 DNA
-
J.D. Watson Origin of concatemeric T7 DNA Nat New Biol 239 94 1972 197 201
-
(1972)
Nat New Biol
, vol.239
, Issue.94
, pp. 197-201
-
-
Watson, J.D.1
-
7
-
-
0024973811
-
A mutant with a defect in telomere elongation leads to senescence in yeast
-
V. Lundblad, and J.W. Szostak A mutant with a defect in telomere elongation leads to senescence in yeast Cell 57 4 1989 633 643
-
(1989)
Cell
, vol.57
, Issue.4
, pp. 633-643
-
-
Lundblad, V.1
Szostak, J.W.2
-
8
-
-
3342972121
-
Does a sentinel or a subset of short telomeres determine replicative senescence?
-
Y. Zou, A. Sfeir, S.M. Gryaznov, J.W. Shay, and W.E. Wright Does a sentinel or a subset of short telomeres determine replicative senescence? Mol Biol Cell 15 8 2004 3709 3718
-
(2004)
Mol Biol Cell
, vol.15
, Issue.8
, pp. 3709-3718
-
-
Zou, Y.1
Sfeir, A.2
Gryaznov, S.M.3
Shay, J.W.4
Wright, W.E.5
-
9
-
-
84872298150
-
Alternative lengthening of telomeres in normal mammalian somatic cells
-
A.A. Neumann, C.M. Watson, J.R. Noble, H.A. Pickett, P.P. Tam, and R.R. Reddel Alternative lengthening of telomeres in normal mammalian somatic cells Genes Dev 27 1 2013 18 23
-
(2013)
Genes Dev
, vol.27
, Issue.1
, pp. 18-23
-
-
Neumann, A.A.1
Watson, C.M.2
Noble, J.R.3
Pickett, H.A.4
Tam, P.P.5
Reddel, R.R.6
-
10
-
-
82755192899
-
Role of telomeres and telomerase in cancer
-
J.W. Shay, and W.E. Wright Role of telomeres and telomerase in cancer Semin Cancer Biol 21 6 2011 349 353
-
(2011)
Semin Cancer Biol
, vol.21
, Issue.6
, pp. 349-353
-
-
Shay, J.W.1
Wright, W.E.2
-
11
-
-
0022402513
-
Identification of a specific telomere terminal transferase activity in Tetrahymena extracts
-
C.W. Greider, and E.H. Blackburn Identification of a specific telomere terminal transferase activity in Tetrahymena extracts Cell 43 2 Pt 1 1985 405 413
-
(1985)
Cell
, vol.43
, Issue.2 PART 1
, pp. 405-413
-
-
Greider, C.W.1
Blackburn, E.H.2
-
12
-
-
14544277627
-
Telomeres and telomerase: Their mechanisms of action and the effects of altering their functions
-
E.H. Blackburn Telomeres and telomerase: their mechanisms of action and the effects of altering their functions FEBS Lett 579 4 2005 859 862
-
(2005)
FEBS Lett
, vol.579
, Issue.4
, pp. 859-862
-
-
Blackburn, E.H.1
-
13
-
-
34147095342
-
Protein composition of catalytically active human telomerase from immortal cells
-
S.B. Cohen, M.E. Graham, G.O. Lovrecz, N. Bache, P.J. Robinson, and R.R. Reddel Protein composition of catalytically active human telomerase from immortal cells Science 315 5820 2007 1850 1853
-
(2007)
Science
, vol.315
, Issue.5820
, pp. 1850-1853
-
-
Cohen, S.B.1
Graham, M.E.2
Lovrecz, G.O.3
Bache, N.4
Robinson, P.J.5
Reddel, R.R.6
-
14
-
-
74049154427
-
The box H/ACA ribonucleoprotein complex: Interplay of RNA and protein structures in post-transcriptional RNA modification
-
T. Hamma, and A.R. Ferre-D'Amare The box H/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification J Biol Chem 285 2 2010 805 809
-
(2010)
J Biol Chem
, vol.285
, Issue.2
, pp. 805-809
-
-
Hamma, T.1
Ferre-D'Amare, A.R.2
-
15
-
-
77950525937
-
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs
-
C. Trahan, C. Martel, and F. Dragon Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs Hum Mol Genet 19 5 2010 825 836
-
(2010)
Hum Mol Genet
, vol.19
, Issue.5
, pp. 825-836
-
-
Trahan, C.1
Martel, C.2
Dragon, F.3
-
16
-
-
84856364779
-
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita
-
X.L. Zeng, N.R. Thumati, and H.B. Fleisig et al. The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita Hum Mol Genet 21 4 2012 721 729
-
(2012)
Hum Mol Genet
, vol.21
, Issue.4
, pp. 721-729
-
-
Zeng, X.L.1
Thumati, N.R.2
Fleisig, H.B.3
-
17
-
-
84878596830
-
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation
-
C. Bellodi, M. McMahon, and A. Contreras et al. H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation Cell Rep 3 5 2013 1493 1502
-
(2013)
Cell Rep
, vol.3
, Issue.5
, pp. 1493-1502
-
-
Bellodi, C.1
McMahon, M.2
Contreras, A.3
-
18
-
-
0032961170
-
A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end
-
J.R. Mitchell, J. Cheng, and K. Collins A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end Mol Cell Biol 19 1 1999 567 576
-
(1999)
Mol Cell Biol
, vol.19
, Issue.1
, pp. 567-576
-
-
Mitchell, J.R.1
Cheng, J.2
Collins, K.3
-
19
-
-
34547559807
-
The box H/ACA RNP assembly factor Naf1p contains a domain homologous to Gar1p mediating its interaction with Cbf5p
-
N. Leulliot, K.S. Godin, and C. Hoareau-Aveilla et al. The box H/ACA RNP assembly factor Naf1p contains a domain homologous to Gar1p mediating its interaction with Cbf5p J Mol Biol 371 5 2007 1338 1353
-
(2007)
J Mol Biol
, vol.371
, Issue.5
, pp. 1338-1353
-
-
Leulliot, N.1
Godin, K.S.2
Hoareau-Aveilla, C.3
-
20
-
-
65949117219
-
TCAB1: Driving telomerase to Cajal bodies
-
A.S. Venteicher, and S.E. Artandi TCAB1: driving telomerase to Cajal bodies Cell Cycle 8 9 2009 1329 1331
-
(2009)
Cell Cycle
, vol.8
, Issue.9
, pp. 1329-1331
-
-
Venteicher, A.S.1
Artandi, S.E.2
-
21
-
-
0032530136
-
Telomerase activity in human development is regulated by human telomerase reverse transcriptase (hTERT) transcription and by alternate splicing of hTERT transcripts
-
G.A. Ulaner, J.F. Hu, T.H. Vu, L.C. Giudice, and A.R. Hoffman Telomerase activity in human development is regulated by human telomerase reverse transcriptase (hTERT) transcription and by alternate splicing of hTERT transcripts Cancer Res 58 18 1998 4168 4172
-
(1998)
Cancer Res
, vol.58
, Issue.18
, pp. 4168-4172
-
-
Ulaner, G.A.1
Hu, J.F.2
Vu, T.H.3
Giudice, L.C.4
Hoffman, A.R.5
-
22
-
-
0029901910
-
Telomerase activity in the regenerative basal layer of the epidermis inhuman skin and in immortal and carcinoma-derived skin keratinocytes
-
C. Harle-Bachor, and P. Boukamp Telomerase activity in the regenerative basal layer of the epidermis inhuman skin and in immortal and carcinoma-derived skin keratinocytes Proc Natl Acad Sci USA 93 13 1996 6476 6481
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, Issue.13
, pp. 6476-6481
-
-
Harle-Bachor, C.1
Boukamp, P.2
-
23
-
-
0029091386
-
Activation of telomerase in human lymphocytes and hematopoietic progenitor cells
-
K. Hiyama, Y. Hirai, and S. Kyoizumi et al. Activation of telomerase in human lymphocytes and hematopoietic progenitor cells J Immunol 155 8 1995 3711 3715
-
(1995)
J Immunol
, vol.155
, Issue.8
, pp. 3711-3715
-
-
Hiyama, K.1
Hirai, Y.2
Kyoizumi, S.3
-
24
-
-
0029940570
-
Differential expression of telomerase activity in hematopoietic progenitors from adult human bone marrow
-
C.P. Chiu, W. Dragowska, and N.W. Kim et al. Differential expression of telomerase activity in hematopoietic progenitors from adult human bone marrow Stem Cells 14 2 1996 239 248
-
(1996)
Stem Cells
, vol.14
, Issue.2
, pp. 239-248
-
-
Chiu, C.P.1
Dragowska, W.2
Kim, N.W.3
-
25
-
-
0029991014
-
Telomerase activity in human cancer
-
J.W. Shay, and W.E. Wright Telomerase activity in human cancer Curr Opin Oncol 8 1 1996 66 71
-
(1996)
Curr Opin Oncol
, vol.8
, Issue.1
, pp. 66-71
-
-
Shay, J.W.1
Wright, W.E.2
-
26
-
-
84880725971
-
Alternative lengthening of telomeres: Remodeling the telomere architecture
-
D. Conomos, H.A. Pickett, and R.R. Reddel Alternative lengthening of telomeres: remodeling the telomere architecture Front Oncol 3 2013 27
-
(2013)
Front Oncol
, vol.3
, pp. 27
-
-
Conomos, D.1
Pickett, H.A.2
Reddel, R.R.3
-
27
-
-
0033672470
-
Telomere maintenance by recombination in human cells
-
M.A. Dunham, A.A. Neumann, C.L. Fasching, and R.R. Reddel Telomere maintenance by recombination in human cells Nat Genet 26 4 2000 447 450
-
(2000)
Nat Genet
, vol.26
, Issue.4
, pp. 447-450
-
-
Dunham, M.A.1
Neumann, A.A.2
Fasching, C.L.3
Reddel, R.R.4
-
28
-
-
84855491182
-
Telomere length measurement-caveats and a critical assessment of the available technologies and tools
-
G. Aubert, M. Hills, and P.M. Lansdorp Telomere length measurement-caveats and a critical assessment of the available technologies and tools Mutat Res 730 1-2 2012 59 67
-
(2012)
Mutat Res
, vol.730
, Issue.12
, pp. 59-67
-
-
Aubert, G.1
Hills, M.2
Lansdorp, P.M.3
-
29
-
-
20144363986
-
New developments in telomere length analysis
-
D.M. Baird New developments in telomere length analysis Exp Gerontol 40 5 2005 363 368
-
(2005)
Exp Gerontol
, vol.40
, Issue.5
, pp. 363-368
-
-
Baird, D.M.1
-
30
-
-
0037313185
-
Extensive allelic variation and ultrashort telomeres in senescent human cells
-
D.M. Baird, J. Rowson, D. Wynford-Thomas, and D. Kipling Extensive allelic variation and ultrashort telomeres in senescent human cells Nat Genet 33 2 2003 203 207
-
(2003)
Nat Genet
, vol.33
, Issue.2
, pp. 203-207
-
-
Baird, D.M.1
Rowson, J.2
Wynford-Thomas, D.3
Kipling, D.4
-
31
-
-
77956663122
-
The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells
-
L. Bendix, P.B. Horn, U.B. Jensen, I. Rubelj, and S. Kolvraa The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells Aging Cell 9 3 2010 383 397
-
(2010)
Aging Cell
, vol.9
, Issue.3
, pp. 383-397
-
-
Bendix, L.1
Horn, P.B.2
Jensen, U.B.3
Rubelj, I.4
Kolvraa, S.5
-
32
-
-
2342419515
-
Telomere measurement by quantitative PCR
-
R.M. Cawthon Telomere measurement by quantitative PCR Nucleic Acids Res 30 10 2002 e47
-
(2002)
Nucleic Acids Res
, vol.30
, Issue.10
, pp. 47
-
-
Cawthon, R.M.1
-
33
-
-
63349111567
-
Telomere length measurement by a novel monochrome multiplex quantitative PCR method
-
R.M. Cawthon Telomere length measurement by a novel monochrome multiplex quantitative PCR method Nucleic Acids Res 37 3 2009 e21
-
(2009)
Nucleic Acids Res
, vol.37
, Issue.3
, pp. 21
-
-
Cawthon, R.M.1
-
34
-
-
84899086811
-
Comparison between southern blots and qPCR analysis of leukocyte telomere length in the health ABC study
-
C.C. Elbers, M.E. Garcia, and M. Kimura et al. Comparison between southern blots and qPCR analysis of leukocyte telomere length in the health ABC study J Gerontol A Biol Sci Med Sci 69 2014 527 531
-
(2014)
J Gerontol A Biol Sci Med Sci
, vol.69
, pp. 527-531
-
-
Elbers, C.C.1
Garcia, M.E.2
Kimura, M.3
-
35
-
-
80455168252
-
Impartial comparative analysis of measurement of leukocyte telomere length/DNA content by Southern blots and qPCR
-
A. Aviv, S.C. Hunt, J. Lin, X. Cao, M. Kimura, and E. Blackburn Impartial comparative analysis of measurement of leukocyte telomere length/DNA content by Southern blots and qPCR Nucleic Acids Res 39 20 2011 e134
-
(2011)
Nucleic Acids Res
, vol.39
, Issue.20
, pp. 134
-
-
Aviv, A.1
Hunt, S.C.2
Lin, J.3
Cao, X.4
Kimura, M.5
Blackburn, E.6
-
36
-
-
34548852722
-
Flow cytometry and FISH to measure the average length of telomeres (flow FISH)
-
G.M. Baerlocher, I. Vulto, G. de Jong, and P.M. Lansdorp Flow cytometry and FISH to measure the average length of telomeres (flow FISH) Nat Protoc 1 5 2006 2365 2376
-
(2006)
Nat Protoc
, vol.1
, Issue.5
, pp. 2365-2376
-
-
Baerlocher, G.M.1
Vulto, I.2
De Jong, G.3
Lansdorp, P.M.4
-
37
-
-
84857769403
-
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
-
B.P. Alter, P.S. Rosenberg, N. Giri, G.M. Baerlocher, P.M. Lansdorp, and S.A. Savage Telomere length is associated with disease severity and declines with age in dyskeratosis congenita Haematologica 97 3 2012 353 359
-
(2012)
Haematologica
, vol.97
, Issue.3
, pp. 353-359
-
-
Alter, B.P.1
Rosenberg, P.S.2
Giri, N.3
Baerlocher, G.M.4
Lansdorp, P.M.5
Savage, S.A.6
-
38
-
-
34548828783
-
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
-
B.P. Alter, G.M. Baerlocher, and S.A. Savage et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita Blood 110 5 2007 1439 1447
-
(2007)
Blood
, vol.110
, Issue.5
, pp. 1439-1447
-
-
Alter, B.P.1
Baerlocher, G.M.2
Savage, S.A.3
-
39
-
-
58849153303
-
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
-
H.Y. Du, E. Pumbo, and J. Ivanovich et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements Blood 113 2 2009 309 316
-
(2009)
Blood
, vol.113
, Issue.2
, pp. 309-316
-
-
Du, H.Y.1
Pumbo, E.2
Ivanovich, J.3
-
40
-
-
80052725505
-
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
-
T.J. Vulliamy, M.J. Kirwan, and R. Beswick et al. Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations PLoS One 6 9 2011 e24383
-
(2011)
PLoS One
, vol.6
, Issue.9
, pp. 24383
-
-
Vulliamy, T.J.1
Kirwan, M.J.2
Beswick, R.3
-
41
-
-
0033362103
-
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
-
S.W. Knight, N.S. Heiss, and T.J. Vulliamy et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene Am J Hum Genet 65 1 1999 50 58
-
(1999)
Am J Hum Genet
, vol.65
, Issue.1
, pp. 50-58
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
42
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
N.S. Heiss, S.W. Knight, and T.J. Vulliamy et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet 19 1 1998 32 38
-
(1998)
Nat Genet
, vol.19
, Issue.1
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
-
43
-
-
0041592752
-
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
-
H. Yamaguchi, G.M. Baerlocher, and P.M. Lansdorp et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome Blood 102 3 2003 916 918
-
(2003)
Blood
, vol.102
, Issue.3
, pp. 916-918
-
-
Yamaguchi, H.1
Baerlocher, G.M.2
Lansdorp, P.M.3
-
44
-
-
15944422499
-
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
-
H. Yamaguchi, R.T. Calado, and H. Ly et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia N Engl J Med 352 14 2005 1413 1424
-
(2005)
N Engl J Med
, vol.352
, Issue.14
, pp. 1413-1424
-
-
Yamaguchi, H.1
Calado, R.T.2
Ly, H.3
-
45
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
K.D. Tsakiri, J.T. Cronkhite, and P.J. Kuan et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase Proc Natl Acad Sci USA 104 18 2007 7552 7557
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.18
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
-
46
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
M.Y. Armanios, J.J. Chen, and J.D. Cogan et al. Telomerase mutations in families with idiopathic pulmonary fibrosis N Engl J Med 356 13 2007 1317 1326
-
(2007)
N Engl J Med
, vol.356
, Issue.13
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
-
47
-
-
70949087815
-
A spectrum of severe familial liver disorders associate with telomerase mutations
-
R.T. Calado, J.A. Regal, and D.E. Kleiner et al. A spectrum of severe familial liver disorders associate with telomerase mutations PLoS One 4 11 2009 e7926
-
(2009)
PLoS One
, vol.4
, Issue.11
, pp. 7926
-
-
Calado, R.T.1
Regal, J.A.2
Kleiner, D.E.3
-
48
-
-
84863393024
-
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
-
B.H. Anderson, P.R. Kasher, and J. Mayer et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Nat Genet 44 3 2012 338 342
-
(2012)
Nat Genet
, vol.44
, Issue.3
, pp. 338-342
-
-
Anderson, B.H.1
Kasher, P.R.2
Mayer, J.3
-
49
-
-
84858076515
-
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts
-
A. Polvi, T. Linnankivi, and T. Kivela et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts Am J Hum Genet 90 3 2012 540 549
-
(2012)
Am J Hum Genet
, vol.90
, Issue.3
, pp. 540-549
-
-
Polvi, A.1
Linnankivi, T.2
Kivela, T.3
-
50
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
I. Dokal Dyskeratosis congenita in all its forms Br J Haematol 110 4 2000 768 779
-
(2000)
Br J Haematol
, vol.110
, Issue.4
, pp. 768-779
-
-
Dokal, I.1
-
51
-
-
0016779247
-
Letter: Dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype
-
T.M. Schroeder, and M. Hofbauer Letter: dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype Dermatologica 151 5 1975 316 318
-
(1975)
Dermatologica
, vol.151
, Issue.5
, pp. 316-318
-
-
Schroeder, T.M.1
Hofbauer, M.2
-
53
-
-
84879357878
-
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
-
B.J. Ballew, and S.A. Savage Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders Expert Rev Hematol 6 3 2013 327 337
-
(2013)
Expert Rev Hematol
, vol.6
, Issue.3
, pp. 327-337
-
-
Ballew, B.J.1
Savage, S.A.2
-
54
-
-
63149186313
-
Advances in the understanding of dyskeratosis congenita
-
A.J. Walne, and I. Dokal Advances in the understanding of dyskeratosis congenita Br J Haematol 145 2 2009 164 172
-
(2009)
Br J Haematol
, vol.145
, Issue.2
, pp. 164-172
-
-
Walne, A.J.1
Dokal, I.2
-
55
-
-
78650639126
-
The genetics and clinical manifestations of telomere biology disorders
-
S.A. Savage, and A.A. Bertuch The genetics and clinical manifestations of telomere biology disorders Genet Med 12 12 2010 753 764
-
(2010)
Genet Med
, vol.12
, Issue.12
, pp. 753-764
-
-
Savage, S.A.1
Bertuch, A.A.2
-
56
-
-
80054808620
-
Clinical utility gene card for: Dyskeratosis congenita
-
10.1038/ejhg.2011.90
-
I. Dokal, T. Vulliamy, P. Mason, and M. Bessler Clinical utility gene card for: dyskeratosis congenita Eur J Hum Genet 19 2011 10.1038/ejhg.2011.90
-
(2011)
Eur J Hum Genet
, vol.19
-
-
Dokal, I.1
Vulliamy, T.2
Mason, P.3
Bessler, M.4
-
57
-
-
79953325915
-
Dyskeratosis congenita: A combined immunodeficiency with broad clinical spectrum - A single-center pediatric experience
-
S. Jyonouchi, L. Forbes, E. Ruchelli, and K.E. Sullivan Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience Pediatr Allergy Immunol 22 3 2011 313 319
-
(2011)
Pediatr Allergy Immunol
, vol.22
, Issue.3
, pp. 313-319
-
-
Jyonouchi, S.1
Forbes, L.2
Ruchelli, E.3
Sullivan, K.E.4
-
58
-
-
45249084528
-
Oral and dental phenotype of dyskeratosis congenita
-
J.C. Atkinson, K.E. Harvey, and D.L. Domingo et al. Oral and dental phenotype of dyskeratosis congenita Oral Dis 14 5 2008 419 427
-
(2008)
Oral Dis
, vol.14
, Issue.5
, pp. 419-427
-
-
Atkinson, J.C.1
Harvey, K.E.2
Domingo, D.L.3
-
59
-
-
77049088459
-
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita
-
E.T. Tsilou, N. Giri, S. Weinstein, C. Mueller, S.A. Savage, and B.P. Alter Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita Ophthalmology 117 3 2010 615 622
-
(2010)
Ophthalmology
, vol.117
, Issue.3
, pp. 615-622
-
-
Tsilou, E.T.1
Giri, N.2
Weinstein, S.3
Mueller, C.4
Savage, S.A.5
Alter, B.P.6
-
60
-
-
85027951867
-
Neuropsychiatric conditions among patients with dyskeratosis congenita: A link with telomere biology?
-
S. Rackley, M. Pao, and G.F. Seratti et al. Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? Psychosomatics 53 3 2012 230 235
-
(2012)
Psychosomatics
, vol.53
, Issue.3
, pp. 230-235
-
-
Rackley, S.1
Pao, M.2
Seratti, G.F.3
-
61
-
-
67650273697
-
Cancer in dyskeratosis congenita
-
B.P. Alter, N. Giri, S.A. Savage, and P.S. Rosenberg Cancer in dyskeratosis congenita Blood 113 26 2009 6549 6557
-
(2009)
Blood
, vol.113
, Issue.26
, pp. 6549-6557
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
Rosenberg, P.S.4
-
62
-
-
0014755402
-
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
-
H.M. Hoyeraal, J. Lamvik, and P.J. Moe Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers Acta Paediatr Scand 59 2 1970 185 191
-
(1970)
Acta Paediatr Scand
, vol.59
, Issue.2
, pp. 185-191
-
-
Hoyeraal, H.M.1
Lamvik, J.2
Moe, P.J.3
-
63
-
-
0023731072
-
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
-
S. Hreidarsson, K. Kristjansson, G. Johannesson, and J.H. Johannsson A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure Acta Paediatr Scand 77 5 1988 773 775
-
(1988)
Acta Paediatr Scand
, vol.77
, Issue.5
, pp. 773-775
-
-
Hreidarsson, S.1
Kristjansson, K.2
Johannesson, G.3
Johannsson, J.H.4
-
64
-
-
0028316507
-
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia
-
F. Berthet, R. Caduff, and U.B. Schaad et al. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia Eur J Pediatr 153 5 1994 333 338
-
(1994)
Eur J Pediatr
, vol.153
, Issue.5
, pp. 333-338
-
-
Berthet, F.1
Caduff, R.2
Schaad, U.B.3
-
65
-
-
38349144367
-
Dyskeratosis congenita: A genetic disorder of many faces
-
M. Kirwan, and I. Dokal Dyskeratosis congenita: a genetic disorder of many faces Clin Genet 73 2 2008 103 112
-
(2008)
Clin Genet
, vol.73
, Issue.2
, pp. 103-112
-
-
Kirwan, M.1
Dokal, I.2
-
66
-
-
84884656362
-
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
-
B.J. Ballew, V. Joseph, and S. De et al. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome PLoS Genet 9 8 2013 e1003695
-
(2013)
PLoS Genet
, vol.9
, Issue.8
, pp. 1003695
-
-
Ballew, B.J.1
Joseph, V.2
De, S.3
-
67
-
-
84876503523
-
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita
-
B.J. Ballew, M. Yeager, and K. Jacobs et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita Hum Genet 132 4 2013 473 480
-
(2013)
Hum Genet
, vol.132
, Issue.4
, pp. 473-480
-
-
Ballew, B.J.1
Yeager, M.2
Jacobs, K.3
-
68
-
-
40749085700
-
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
-
S.A. Savage, N. Giri, G.M. Baerlocher, N. Orr, P.M. Lansdorp, and B.P. Alter TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita Am J Hum Genet 82 2 2008 501 509
-
(2008)
Am J Hum Genet
, vol.82
, Issue.2
, pp. 501-509
-
-
Savage, S.A.1
Giri, N.2
Baerlocher, G.M.3
Orr, N.4
Lansdorp, P.M.5
Alter, B.P.6
-
69
-
-
55749094159
-
TINF2 mutations result in very short telomeres: Analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
-
A.J. Walne, T. Vulliamy, R. Beswick, M. Kirwan, and I. Dokal TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes Blood 112 9 2008 3594 3600
-
(2008)
Blood
, vol.112
, Issue.9
, pp. 3594-3600
-
-
Walne, A.J.1
Vulliamy, T.2
Beswick, R.3
Kirwan, M.4
Dokal, I.5
-
70
-
-
34447307404
-
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
-
A.J. Walne, T. Vulliamy, and A. Marrone et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 Hum Mol Genet 16 13 2007 1619 1629
-
(2007)
Hum Mol Genet
, vol.16
, Issue.13
, pp. 1619-1629
-
-
Walne, A.J.1
Vulliamy, T.2
Marrone, A.3
-
71
-
-
45849131292
-
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
-
T. Vulliamy, R. Beswick, and M. Kirwan et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita Proc Natl Acad Sci USA 105 23 2008 8073 8078
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, Issue.23
, pp. 8073-8078
-
-
Vulliamy, T.1
Beswick, R.2
Kirwan, M.3
-
72
-
-
0026803181
-
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome?
-
T. Revesz, S. Fletcher, L.I. al-Gazali, and P. DeBuse Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 29 9 1992 673 675
-
(1992)
J Med Genet
, vol.29
, Issue.9
, pp. 673-675
-
-
Revesz, T.1
Fletcher, S.2
Al-Gazali, L.I.3
Debuse, P.4
-
73
-
-
84857524662
-
Connecting complex disorders through biology
-
S.A. Savage Connecting complex disorders through biology Nat Genet 44 3 2012 238 240
-
(2012)
Nat Genet
, vol.44
, Issue.3
, pp. 238-240
-
-
Savage, S.A.1
-
74
-
-
77956925473
-
Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia
-
P. Scheinberg, J.N. Cooper, E.M. Sloand, C.O. Wu, R.T. Calado, and N.S. Young Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia JAMA 304 12 2010 1358 1364
-
(2010)
JAMA
, vol.304
, Issue.12
, pp. 1358-1364
-
-
Scheinberg, P.1
Cooper, J.N.2
Sloand, E.M.3
Wu, C.O.4
Calado, R.T.5
Young, N.S.6
-
75
-
-
52749083873
-
Telomere shortening in familial and sporadic pulmonary fibrosis
-
J.T. Cronkhite, C. Xing, and G. Raghu et al. Telomere shortening in familial and sporadic pulmonary fibrosis Am J Respir Crit Care Med 178 7 2008 729 737
-
(2008)
Am J Respir Crit Care Med
, vol.178
, Issue.7
, pp. 729-737
-
-
Cronkhite, J.T.1
Xing, C.2
Raghu, G.3
-
76
-
-
66249147255
-
Prevalence of telomere shortening in familial and sporadic pulmonary fibrosis is increased in men
-
R. Borie, B. Crestani, and H. Bichat Prevalence of telomere shortening in familial and sporadic pulmonary fibrosis is increased in men Am J Respir Crit Care Med 179 11 2009 1073
-
(2009)
Am J Respir Crit Care Med
, vol.179
, Issue.11
, pp. 1073
-
-
Borie, R.1
Crestani, B.2
Bichat, H.3
-
77
-
-
79955119666
-
Constitutional telomerase mutations are genetic risk factors for cirrhosis
-
R.T. Calado, J. Brudno, and P. Mehta et al. Constitutional telomerase mutations are genetic risk factors for cirrhosis Hepatology 53 5 2011 1600 1607
-
(2011)
Hepatology
, vol.53
, Issue.5
, pp. 1600-1607
-
-
Calado, R.T.1
Brudno, J.2
Mehta, P.3
-
78
-
-
28044471165
-
The effect of TERC haploinsufficiency on the inheritance of telomere length
-
F. Goldman, R. Bouarich, and S. Kulkarni et al. The effect of TERC haploinsufficiency on the inheritance of telomere length Proc Natl Acad Sci USA 102 47 2005 17119 17124
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.47
, pp. 17119-17124
-
-
Goldman, F.1
Bouarich, R.2
Kulkarni, S.3
-
79
-
-
27644574342
-
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
-
M. Armanios, J.L. Chen, and Y.P. Chang et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita Proc Natl Acad Sci USA 102 44 2005 15960 15964
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.44
, pp. 15960-15964
-
-
Armanios, M.1
Chen, J.L.2
Chang, Y.P.3
-
80
-
-
2442617343
-
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
-
T. Vulliamy, A. Marrone, R. Szydlo, A. Walne, P.J. Mason, and I. Dokal Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC Nat Genet 36 5 2004 447 449
-
(2004)
Nat Genet
, vol.36
, Issue.5
, pp. 447-449
-
-
Vulliamy, T.1
Marrone, A.2
Szydlo, R.3
Walne, A.4
Mason, P.J.5
Dokal, I.6
-
81
-
-
84887524732
-
Dyskeratosis congenita
-
R.A. Pagon, M.P. Adam, H.H. Ardinger, University of Washington, Seattle Seattle, WA
-
S.A. Savage Dyskeratosis congenita R.A. Pagon, M.P. Adam, H.H. Ardinger, GeneReviews 1993 University of Washington, Seattle Seattle, WA
-
(1993)
GeneReviews
-
-
Savage, S.A.1
-
82
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
T. Vulliamy, A. Marrone, and F. Goldman et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature 413 6854 2001 432 435
-
(2001)
Nature
, vol.413
, Issue.6854
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
-
83
-
-
18844421369
-
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
-
T.J. Vulliamy, A. Walne, A. Baskaradas, P.J. Mason, A. Marrone, and I. Dokal Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure Blood Cells Mol Dis 34 3 2005 257 263
-
(2005)
Blood Cells Mol Dis
, vol.34
, Issue.3
, pp. 257-263
-
-
Vulliamy, T.J.1
Walne, A.2
Baskaradas, A.3
Mason, P.J.4
Marrone, A.5
Dokal, I.6
-
84
-
-
78650900215
-
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita
-
F. Zhong, S.A. Savage, and M. Shkreli et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita Genes Dev 25 1 2011 11 16
-
(2011)
Genes Dev
, vol.25
, Issue.1
, pp. 11-16
-
-
Zhong, F.1
Savage, S.A.2
Shkreli, M.3
-
85
-
-
84862266191
-
CTC1 mutations in a patient with dyskeratosis congenita
-
R.B. Keller, K.E. Gagne, and G.N. Usmani et al. CTC1 mutations in a patient with dyskeratosis congenita Pediatr Blood Cancer 59 2 2012 311 314
-
(2012)
Pediatr Blood Cancer
, vol.59
, Issue.2
, pp. 311-314
-
-
Keller, R.B.1
Gagne, K.E.2
Usmani, G.N.3
-
86
-
-
84876410662
-
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
-
A.J. Walne, T. Vulliamy, M. Kirwan, V. Plagnol, and I. Dokal Constitutional mutations in RTEL1 cause severe dyskeratosis congenita Am J Hum Genet 92 3 2013 448 453
-
(2013)
Am J Hum Genet
, vol.92
, Issue.3
, pp. 448-453
-
-
Walne, A.J.1
Vulliamy, T.2
Kirwan, M.3
Plagnol, V.4
Dokal, I.5
-
87
-
-
84881146125
-
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability
-
T. Le Guen, L. Jullien, and F. Touzot et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability Hum Mol Genet 22 2013 3239 3249
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3239-3249
-
-
Le Guen, T.1
Jullien, L.2
Touzot, F.3
-
88
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
S.W. Knight, N.S. Heiss, and T.J. Vulliamy et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 Br J Haematol 107 2 1999 335 339
-
(1999)
Br J Haematol
, vol.107
, Issue.2
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
89
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
J.R. Mitchell, E. Wood, and K. Collins A telomerase component is defective in the human disease dyskeratosis congenita Nature 402 6761 1999 551 555
-
(1999)
Nature
, vol.402
, Issue.6761
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
90
-
-
77956289135
-
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations
-
A. Diaz de Leon, J.T. Cronkhite, and A.L. Katzenstein et al. Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations PLoS One 5 5 2010 e10680
-
(2010)
PLoS One
, vol.5
, Issue.5
, pp. 10680
-
-
Diaz De Leon, A.1
Cronkhite, J.T.2
Katzenstein, A.L.3
-
91
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
M.Y. Armanios, J.J. Chen, and J.D. Cogan et al. Telomerase mutations in families with idiopathic pulmonary fibrosis N Eng J Med 356 13 2007 1317 1326
-
(2007)
N Eng J Med
, vol.356
, Issue.13
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
-
92
-
-
63649117819
-
TINF2 mutations in children with severe aplastic anemia
-
H.Y. Du, P.J. Mason, M. Bessler, and D.B. Wilson TINF2 mutations in children with severe aplastic anemia Pediatr Blood Cancer 52 5 2009 687
-
(2009)
Pediatr Blood Cancer
, vol.52
, Issue.5
, pp. 687
-
-
Du, H.Y.1
Mason, P.J.2
Bessler, M.3
Wilson, D.B.4
-
93
-
-
84874508994
-
Mutations in the telomere capping complex in bone marrow failure and related syndromes
-
A.J. Walne, T. Bhagat, and M. Kirwan et al. Mutations in the telomere capping complex in bone marrow failure and related syndromes Haematologica 98 3 2013 334 338
-
(2013)
Haematologica
, vol.98
, Issue.3
, pp. 334-338
-
-
Walne, A.J.1
Bhagat, T.2
Kirwan, M.3
-
94
-
-
77953395030
-
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
-
F. Touzot, I. Callebaut, and J. Soulier et al. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome Proc Natl Acad Sci USA 107 22 2010 10097 10102
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.22
, pp. 10097-10102
-
-
Touzot, F.1
Callebaut, I.2
Soulier, J.3
-
95
-
-
77958461251
-
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
-
A.J. Walne, T. Vulliamy, R. Beswick, M. Kirwan, and I. Dokal Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome Hum Mol Genet 19 22 2010 4453 4461
-
(2010)
Hum Mol Genet
, vol.19
, Issue.22
, pp. 4453-4461
-
-
Walne, A.J.1
Vulliamy, T.2
Beswick, R.3
Kirwan, M.4
Dokal, I.5
-
96
-
-
33645508898
-
Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
-
T.J. Vulliamy, A. Marrone, S.W. Knight, A. Walne, P.J. Mason, and I. Dokal Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation Blood 107 7 2006 2680 2685
-
(2006)
Blood
, vol.107
, Issue.7
, pp. 2680-2685
-
-
Vulliamy, T.J.1
Marrone, A.2
Knight, S.W.3
Walne, A.4
Mason, P.J.5
Dokal, I.6
-
97
-
-
79952733859
-
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
-
S.M. Gadalla, R. Cawthon, N. Giri, B.P. Alter, and S.A. Savage Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes Aging (Albany, NY) 2 11 2010 867 874
-
(2010)
Aging (Albany, NY)
, vol.2
, Issue.11
, pp. 867-874
-
-
Gadalla, S.M.1
Cawthon, R.2
Giri, N.3
Alter, B.P.4
Savage, S.A.5
-
99
-
-
67651230888
-
Dyskeratosis congenita: The first NIH clinical research workshop
-
S.A. Savage, I. Dokal, and M. Armanios et al. Dyskeratosis congenita: the first NIH clinical research workshop Pediatr Blood Cancer 53 3 2009 520 523
-
(2009)
Pediatr Blood Cancer
, vol.53
, Issue.3
, pp. 520-523
-
-
Savage, S.A.1
Dokal, I.2
Armanios, M.3
-
100
-
-
80052636218
-
-
3rd ed. Fanconi Anemia Research Fund, Inc. Eugene, OR
-
M.E. Eiler, L. Frohnmayer, K. Larsen, and J. Owen Fanconi Anemia: Guidelines for Diagnosis and Management 3rd ed. 2008 Fanconi Anemia Research Fund, Inc. Eugene, OR
-
(2008)
Fanconi Anemia: Guidelines for Diagnosis and Management
-
-
Eiler, M.E.1
Frohnmayer, L.2
Larsen, K.3
Owen, J.4
-
101
-
-
77952674566
-
Pathophysiology and management of inherited bone marrow failure syndromes
-
A. Shimamura, and B.P. Alter Pathophysiology and management of inherited bone marrow failure syndromes Blood Rev 24 3 2010 101 122
-
(2010)
Blood Rev
, vol.24
, Issue.3
, pp. 101-122
-
-
Shimamura, A.1
Alter, B.P.2
-
102
-
-
33745939777
-
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
-
M.M. Al-Rahawan, N. Giri, and B.P. Alter Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita Int J Hematol 83 3 2006 275 276
-
(2006)
Int J Hematol
, vol.83
, Issue.3
, pp. 275-276
-
-
Al-Rahawan, M.M.1
Giri, N.2
Alter, B.P.3
-
103
-
-
0026095226
-
Late vascular complications after bone marrow transplantation for dyskeratosis congenita
-
C. Berthou, A. Devergie, and M.F. D'Agay et al. Late vascular complications after bone marrow transplantation for dyskeratosis congenita Br J Haematol 79 2 1991 335 336
-
(1991)
Br J Haematol
, vol.79
, Issue.2
, pp. 335-336
-
-
Berthou, C.1
Devergie, A.2
D'Agay, M.F.3
-
104
-
-
34547410832
-
Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation
-
J. de la Fuente, and I. Dokal Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation Pediatr Transplant 11 6 2007 584 594
-
(2007)
Pediatr Transplant
, vol.11
, Issue.6
, pp. 584-594
-
-
De La Fuente, J.1
Dokal, I.2
-
105
-
-
0031045320
-
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation
-
M. Yabe, H. Yabe, and K. Hattori et al. Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation Bone Marrow Transplant 19 4 1997 389 392
-
(1997)
Bone Marrow Transplant
, vol.19
, Issue.4
, pp. 389-392
-
-
Yabe, M.1
Yabe, H.2
Hattori, K.3
-
106
-
-
0038621756
-
Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita
-
Y. Dror, M.H. Freedman, and M. Leaker et al. Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita Bone Marrow Transplant 31 10 2003 847 850
-
(2003)
Bone Marrow Transplant
, vol.31
, Issue.10
, pp. 847-850
-
-
Dror, Y.1
Freedman, M.H.2
Leaker, M.3
-
107
-
-
30544453376
-
Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen
-
author reply 1105
-
P. Brazzola, M. Duval, and J.C. Fournet et al. Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen Bone Marrow Transplant 36 12 2005 1103 1105 author reply 1105
-
(2005)
Bone Marrow Transplant
, vol.36
, Issue.12
, pp. 1103-1105
-
-
Brazzola, P.1
Duval, M.2
Fournet, J.C.3
-
108
-
-
33847054310
-
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure
-
F. Ostronoff, M. Ostronoff, and R. Calixto et al. Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure Biol Blood Marrow Transplant 13 3 2007 366 368
-
(2007)
Biol Blood Marrow Transplant
, vol.13
, Issue.3
, pp. 366-368
-
-
Ostronoff, F.1
Ostronoff, M.2
Calixto, R.3
-
109
-
-
77958533701
-
Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita
-
L.G. Vuong, P.G. Hemmati, and S. Neuburger et al. Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita Acta Haematol 124 4 2010 200 203
-
(2010)
Acta Haematol
, vol.124
, Issue.4
, pp. 200-203
-
-
Vuong, L.G.1
Hemmati, P.G.2
Neuburger, S.3
-
110
-
-
78651373073
-
Disease-specific hematopoietic cell transplantation: Nonmyeloablative conditioning regimen for dyskeratosis congenita
-
A.C. Dietz, P.J. Orchard, and K.S. Baker et al. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita Bone Marrow Transplant 46 1 2011 98 104
-
(2011)
Bone Marrow Transplant
, vol.46
, Issue.1
, pp. 98-104
-
-
Dietz, A.C.1
Orchard, P.J.2
Baker, K.S.3
-
111
-
-
79951633240
-
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita
-
N. Nishio, Y. Takahashi, and H. Ohashi et al. Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita Pediatr Transplant 15 2 2011 161 166
-
(2011)
Pediatr Transplant
, vol.15
, Issue.2
, pp. 161-166
-
-
Nishio, N.1
Takahashi, Y.2
Ohashi, H.3
-
112
-
-
0344851536
-
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
-
P.F. Fogarty, H. Yamaguchi, and A. Wiestner et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA Lancet 362 9396 2003 1628 1630
-
(2003)
Lancet
, vol.362
, Issue.9396
, pp. 1628-1630
-
-
Fogarty, P.F.1
Yamaguchi, H.2
Wiestner, A.3
-
113
-
-
55849144405
-
All in the family: Disclosure of "unwanted" information to an adolescent to benefit a relative
-
C.C. Denny, B.S. Wilfond, J.A. Peters, N. Giri, and B.P. Alter All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative Am J Med Genet A 146A 21 2008 2719 2724
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.21
, pp. 2719-2724
-
-
Denny, C.C.1
Wilfond, B.S.2
Peters, J.A.3
Giri, N.4
Alter, B.P.5
-
114
-
-
0014113649
-
Treatment of aplastic anemia in children
-
L.K. Diamond, and N.T. Shahidi Treatment of aplastic anemia in children Semin Hematol 4 3 1967 278 288
-
(1967)
Semin Hematol
, vol.4
, Issue.3
, pp. 278-288
-
-
Diamond, L.K.1
Shahidi, N.T.2
-
115
-
-
0034811303
-
A review of the chemistry, biological action, and clinical applications of anabolic-androgenic steroids
-
N.T. Shahidi A review of the chemistry, biological action, and clinical applications of anabolic-androgenic steroids Clin Ther 23 9 2001 1355 1390
-
(2001)
Clin Ther
, vol.23
, Issue.9
, pp. 1355-1390
-
-
Shahidi, N.T.1
-
116
-
-
84898458091
-
Response to androgen therapy and side effects in patients with dyskeratosis congenita
-
P. Khincha, I. Wentzensen, N. Giri, B.P. Alter, and S.A. Savage Response to androgen therapy and side effects in patients with dyskeratosis congenita Br J Haematol 165 2014 349 357
-
(2014)
Br J Haematol
, vol.165
, pp. 349-357
-
-
Khincha, P.1
Wentzensen, I.2
Giri, N.3
Alter, B.P.4
Savage, S.A.5
-
117
-
-
34548153469
-
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor
-
N. Giri, P.A. Pitel, D. Green, and B.P. Alter Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor Br J Haematol 138 6 2007 815 817
-
(2007)
Br J Haematol
, vol.138
, Issue.6
, pp. 815-817
-
-
Giri, N.1
Pitel, P.A.2
Green, D.3
Alter, B.P.4
-
118
-
-
79958769846
-
Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review
-
N. Giri, R. Lee, and A. Faro et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: case Report and systematic literature review BMC Blood Disord 11 2011 3
-
(2011)
BMC Blood Disord
, vol.11
, pp. 3
-
-
Giri, N.1
Lee, R.2
Faro, A.3
|