-
1
-
-
0026733377
-
Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature
-
Drachtman R.A., and Alter B.P. Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol 14 4 (1992) 297-304
-
(1992)
Am J Pediatr Hematol Oncol
, vol.14
, Issue.4
, pp. 297-304
-
-
Drachtman, R.A.1
Alter, B.P.2
-
2
-
-
38849204872
-
Dyskeratosis congenita: a historical perspective
-
Walne A.J., and Dokal I. Dyskeratosis congenita: a historical perspective. Mech Ageing Dev 129 1-2 (2008) 48-59
-
(2008)
Mech Ageing Dev
, vol.129
, Issue.1-2
, pp. 48-59
-
-
Walne, A.J.1
Dokal, I.2
-
3
-
-
34548828783
-
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
-
Alter B.P., Baerlocher G.M., Savage S.A., 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
-
4
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
Mitchell J.R., Wood E., and Collins K. 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
-
5
-
-
39049092675
-
The role of telomere biology in bone marrow failure and other disorders
-
Savage S.A., and Alter B.P. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 129 1-2 (2008) 35-47
-
(2008)
Mech Ageing Dev
, vol.129
, Issue.1-2
, pp. 35-47
-
-
Savage, S.A.1
Alter, B.P.2
-
6
-
-
0000605996
-
Atrophia Cutis Reticularis cum Pigmentations, Dystrophia Unguium et Leukoplakis oris (Poikioodermia atrophicans vascularis Jacobi)
-
[in German]
-
Zinsser F. Atrophia Cutis Reticularis cum Pigmentations, Dystrophia Unguium et Leukoplakis oris (Poikioodermia atrophicans vascularis Jacobi). Ikonographia Dermatologica 5 (1910) 219-223 [in German]
-
(1910)
Ikonographia Dermatologica
, vol.5
, pp. 219-223
-
-
Zinsser, F.1
-
7
-
-
0000757535
-
A unique case of reticular pigmentation of the skin with atrophy
-
Engman M.F.S. A unique case of reticular pigmentation of the skin with atrophy. Arch Belg Dermatol Syphiligr 13 (1926) 685-687
-
(1926)
Arch Belg Dermatol Syphiligr
, vol.13
, pp. 685-687
-
-
Engman, M.F.S.1
-
8
-
-
0002924576
-
Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris
-
Cole H.N., Rauschkolb J., and Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Archives of Dermatology and Syphilology 21 (1930) 71-95
-
(1930)
Archives of Dermatology and Syphilology
, vol.21
, pp. 71-95
-
-
Cole, H.N.1
Rauschkolb, J.2
Toomey, J.3
-
9
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
Dokal I. 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
-
11
-
-
33645508898
-
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
-
Vulliamy T.J., Marrone A., Knight S.W., et al. 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
-
12
-
-
40749085700
-
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
-
Savage S.A., Giri N., Baerlocher G.M., et al. 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
-
13
-
-
0014755402
-
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
-
Hoyeraal H.M., Lamvik J., and Moe P.J. 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
-
14
-
-
0023731072
-
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
-
Hreidarsson S., Kristjansson K., Johannesson G., et al. 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
-
15
-
-
0028916022
-
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
-
Aalfs C.M., van den B.H., Barth P.G., and Hennekam R.C. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr 154 4 (1995) 304-308
-
(1995)
Eur J Pediatr
, vol.154
, Issue.4
, pp. 304-308
-
-
Aalfs, C.M.1
van den, B.H.2
Barth, P.G.3
Hennekam, R.C.4
-
16
-
-
10744229510
-
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
-
Sznajer Y., Baumann C., David A., et al. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 162 12 (2003) 863-867
-
(2003)
Eur J Pediatr
, vol.162
, Issue.12
, pp. 863-867
-
-
Sznajer, Y.1
Baumann, C.2
David, A.3
-
17
-
-
55749094159
-
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
-
Walne A.J., Vulliamy T., Beswick R., et al. 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
-
18
-
-
38849168568
-
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
-
Marrone A., Walne A., Tamary H., et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 110 13 (2007) 4198-4205
-
(2007)
Blood
, vol.110
, Issue.13
, pp. 4198-4205
-
-
Marrone, A.1
Walne, A.2
Tamary, H.3
-
19
-
-
0026803181
-
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
-
Revesz T., Fletcher S., Gazali L.I., et al. 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
Gazali, L.I.3
-
20
-
-
0028011777
-
Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
-
Kajtar P., and Mehes K. Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet 49 4 (1994) 374-377
-
(1994)
Am J Med Genet
, vol.49
, Issue.4
, pp. 374-377
-
-
Kajtar, P.1
Mehes, K.2
-
21
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss N.S., Knight S.W., Vulliamy T.J., 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
-
22
-
-
45849131292
-
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
-
Vulliamy T., Beswick R., Kirwan M., et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A 105 23 (2008) 8073-8078
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.23
, pp. 8073-8078
-
-
Vulliamy, T.1
Beswick, R.2
Kirwan, M.3
-
23
-
-
34447307404
-
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
-
Walne A.J., Vulliamy T., Marrone A., 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
-
24
-
-
42149185640
-
Telomeres and aging
-
Aubert G., and Lansdorp P.M. Telomeres and aging. Physiol Rev 88 2 (2008) 557-579
-
(2008)
Physiol Rev
, vol.88
, Issue.2
, pp. 557-579
-
-
Aubert, G.1
Lansdorp, P.M.2
-
25
-
-
33751072682
-
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita
-
Wong J.M., and Collins K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev 20 20 (2006) 2848-2858
-
(2006)
Genes Dev
, vol.20
, Issue.20
, pp. 2848-2858
-
-
Wong, J.M.1
Collins, K.2
-
26
-
-
2442617343
-
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
-
Vulliamy T., Marrone A., Szydlo R., et al. 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
-
27
-
-
0041592752
-
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
-
Yamaguchi H., Baerlocher G.M., Lansdorp P.M., 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
-
28
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
Armanios M.Y., Chen J.J., Cogan J.D., 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
-
29
-
-
15944422499
-
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
-
Yamaguchi H., Calado R.T., Ly H., 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
-
30
-
-
33748776816
-
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
-
Savage S.A., Stewart B.J., Weksler B.B., et al. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 37 2 (2006) 134-136
-
(2006)
Blood Cells Mol Dis
, vol.37
, Issue.2
, pp. 134-136
-
-
Savage, S.A.1
Stewart, B.J.2
Weksler, B.B.3
-
31
-
-
18844421369
-
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
-
Vulliamy T.J., Walne A., Baskaradas A., et al. 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
-
32
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
Tsakiri K.D., Cronkhite J.T., Kuan P.J., et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A 104 18 (2007) 7552-7557
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, Issue.18
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
-
33
-
-
27644574342
-
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
-
Armanios M., Chen J.L., Chang Y.P., et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 102 44 (2005) 15960-15964
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, Issue.44
, pp. 15960-15964
-
-
Armanios, M.1
Chen, J.L.2
Chang, Y.P.3
-
34
-
-
20144363986
-
New developments in telomere length analysis
-
Baird D.M. 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
-
35
-
-
30944443562
-
The telomere length dynamic and methods of its assessment
-
Lin K.W., and Yan J. The telomere length dynamic and methods of its assessment. J Cell Mol Med 9 4 (2005) 977-989
-
(2005)
J Cell Mol Med
, vol.9
, Issue.4
, pp. 977-989
-
-
Lin, K.W.1
Yan, J.2
-
36
-
-
0142205623
-
Telomere length measurements in leukocyte subsets by automated multicolor flow-FISH
-
Baerlocher G.M., and Lansdorp P.M. Telomere length measurements in leukocyte subsets by automated multicolor flow-FISH. Cytometry A 55 1 (2003) 1-6
-
(2003)
Cytometry A
, vol.55
, Issue.1
, pp. 1-6
-
-
Baerlocher, G.M.1
Lansdorp, P.M.2
-
37
-
-
0032525092
-
Progressive telomere shortening in aplastic anemia
-
Ball S.E., Gibson F.M., Rizzo S., et al. Progressive telomere shortening in aplastic anemia. Blood 91 10 (1998) 3582-3592
-
(1998)
Blood
, vol.91
, Issue.10
, pp. 3582-3592
-
-
Ball, S.E.1
Gibson, F.M.2
Rizzo, S.3
-
38
-
-
62649107792
-
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
-
Du H.Y., Pumbo E., Ivanovich J., et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood (2008)
-
(2008)
Blood
-
-
Du, H.Y.1
Pumbo, E.2
Ivanovich, J.3
-
39
-
-
0031879115
-
Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry
-
Rufer N., Dragowska W., Thornbury G., et al. Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry. Nat Biotechnol 16 8 (1998) 743-747
-
(1998)
Nat Biotechnol
, vol.16
, Issue.8
, pp. 743-747
-
-
Rufer, N.1
Dragowska, W.2
Thornbury, G.3
-
40
-
-
16644388429
-
Telomere length measurements using fluorescence in situ hybridization and flow cytometry
-
Baerlocher G.M., and Lansdorp P.M. Telomere length measurements using fluorescence in situ hybridization and flow cytometry. Methods Cell Biol 75 (2004) 719-750
-
(2004)
Methods Cell Biol
, vol.75
, pp. 719-750
-
-
Baerlocher, G.M.1
Lansdorp, P.M.2
-
41
-
-
13144305133
-
The rate of telomere sequence loss in human leukocytes varies with age
-
Frenck Jr. R.W., Blackburn E.H., and Shannon K.M. The rate of telomere sequence loss in human leukocytes varies with age. Proc Natl Acad Sci U S A 95 10 (1998) 5607-5610
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, Issue.10
, pp. 5607-5610
-
-
Frenck Jr., R.W.1
Blackburn, E.H.2
Shannon, K.M.3
-
42
-
-
0345643319
-
Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood
-
Rufer N., Brummendorf T.H., Kolvraa S., et al. Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood. J Exp Med 190 2 (1999) 157-167
-
(1999)
J Exp Med
, vol.190
, Issue.2
, pp. 157-167
-
-
Rufer, N.1
Brummendorf, T.H.2
Kolvraa, S.3
-
43
-
-
0027993344
-
Genetic determination of telomere size in humans: a twin study of three age groups
-
Slagboom P.E., Droog S., and Boomsma D.I. Genetic determination of telomere size in humans: a twin study of three age groups. Am J Hum Genet 55 5 (1994) 876-882
-
(1994)
Am J Hum Genet
, vol.55
, Issue.5
, pp. 876-882
-
-
Slagboom, P.E.1
Droog, S.2
Boomsma, D.I.3
-
44
-
-
0033135266
-
Rapid telomere shortening in children
-
Zeichner S.L., Palumbo P., Feng Y., et al. Rapid telomere shortening in children. Blood 93 9 (1999) 2824-2830
-
(1999)
Blood
, vol.93
, Issue.9
, pp. 2824-2830
-
-
Zeichner, S.L.1
Palumbo, P.2
Feng, Y.3
-
45
-
-
33745939777
-
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
-
Al Rahawan M.M., Giri N., and Alter B.P. 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
-
46
-
-
0031045320
-
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation
-
Yabe M., Yabe H., Hattori K., 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
-
47
-
-
33847054310
-
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure
-
Ostronoff F., Ostronoff M., Calixto R., 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
-
48
-
-
30544453376
-
Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen
-
Brazzola P., Duval M., Fournet J.C., 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
-
(2005)
Bone Marrow Transplant
, vol.36
, Issue.12
, pp. 1103-1105
-
-
Brazzola, P.1
Duval, M.2
Fournet, J.C.3
-
49
-
-
34547410832
-
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation
-
de la Fuente J., and Dokal I. 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
-
50
-
-
0038621756
-
Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita
-
Dror Y., Freedman M.H., Leaker M., 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
-
51
-
-
55849144405
-
All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative
-
Denny C.C., Wilfond B.S., Peters J.A., et al. 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
-
52
-
-
35648999925
-
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
-
Marrone A., Sokhal P., Walne A., et al. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica 92 8 (2007) 1013-1020
-
(2007)
Haematologica
, vol.92
, Issue.8
, pp. 1013-1020
-
-
Marrone, A.1
Sokhal, P.2
Walne, A.3
-
54
-
-
62649143173
-
Cancer epidemiology in the National Cancer Institute inherited bone marrow failure syndromes cohort: First report
-
San Francisco, CA, December 6-9
-
Rosenberg P, Giri N, Savage SA, et al. Cancer epidemiology in the National Cancer Institute inherited bone marrow failure syndromes cohort: first report. ASH Annual Meeting, San Francisco, CA, December 6-9, 2008.
-
(2008)
ASH Annual Meeting
-
-
Rosenberg, P.1
Giri, N.2
Savage, S.A.3
et al4
-
55
-
-
67651230888
-
Dyskeratosis congenita: The first NIH clinical research workshop
-
manuscript under review
-
Savage SA, Dokal I, Armanios M, et al. Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer, manuscript under review.
-
Pediatr Blood Cancer
-
-
Savage, S.A.1
Dokal, I.2
Armanios, M.3
et al4
-
56
-
-
33745516977
-
Dyskeratosis congenita
-
Vulliamy T., and Dokal I. Dyskeratosis congenita. Semin Hematol 43 3 (2006) 157-166
-
(2006)
Semin Hematol
, vol.43
, Issue.3
, pp. 157-166
-
-
Vulliamy, T.1
Dokal, I.2
-
57
-
-
40549106508
-
Diagnosis, genetics, and management of inherited bone marrow failure syndromes
-
Alter B.P. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007 (2007) 29-39
-
(2007)
Hematology Am Soc Hematol Educ Program
, vol.2007
, pp. 29-39
-
-
Alter, B.P.1
-
58
-
-
51349113450
-
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
-
Alder J.K., Chen J.J., Lancaster L., et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A 105 35 (2008) 13051-13056
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.35
, pp. 13051-13056
-
-
Alder, J.K.1
Chen, J.J.2
Lancaster, L.3
-
59
-
-
57049092156
-
Ataxia and pancytopenia caused by a mutation in TINF2
-
Tsangaris E., Adams S.L., Yoon G., et al. Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet 124 5 (2008) 507-513
-
(2008)
Hum Genet
, vol.124
, Issue.5
, pp. 507-513
-
-
Tsangaris, E.1
Adams, S.L.2
Yoon, G.3
-
60
-
-
33748891280
-
A case of dyskeratosis congenita associated with schizophrenia and two malignancies
-
Mahiques L., Febrer I., Vilata J.J., et al. A case of dyskeratosis congenita associated with schizophrenia and two malignancies. J Eur Acad Dermatol Venereol 20 9 (2006) 1159-1161
-
(2006)
J Eur Acad Dermatol Venereol
, vol.20
, Issue.9
, pp. 1159-1161
-
-
Mahiques, L.1
Febrer, I.2
Vilata, J.J.3
-
61
-
-
0344818372
-
Dyskeratosis congenita. A case with new features
-
Milgrom H., Sroll Jr. H.L., and Crissey J.T. Dyskeratosis congenita. A case with new features. Arch Dermatol 89 (1964) 345-349
-
(1964)
Arch Dermatol
, vol.89
, pp. 345-349
-
-
Milgrom, H.1
Sroll Jr., H.L.2
Crissey, J.T.3
-
62
-
-
62649134203
-
Proliferative retinopathy as a complication of dyskeratosis congenita. Retinal Cases and Brief Reports
-
in press
-
Mason III JO, Yunker JJ, Nixon PA, et al. Proliferative retinopathy as a complication of dyskeratosis congenita. Retinal Cases and Brief Reports. in press.
-
-
-
Mason III, J.O.1
Yunker, J.J.2
Nixon, P.A.3
et al4
-
63
-
-
0013380609
-
-
Owen J., Frohnmayer L., and Eiler M.E. (Eds), Fanconi Anemia Research Fund, Inc, Eugene (OR) p. 184
-
In: Owen J., Frohnmayer L., and Eiler M.E. (Eds). Fanconi anemia: standards for clinical care (2003), Fanconi Anemia Research Fund, Inc, Eugene (OR) p. 184
-
(2003)
Fanconi anemia: standards for clinical care
-
-
-
64
-
-
7244234131
-
Androgens and liver tumors: Fanconi 's anemia and non-Fanconi 's conditions
-
Velazquez I., and Alter B.P. Androgens and liver tumors: Fanconi 's anemia and non-Fanconi 's conditions. Am J Hematol 77 3 (2004) 257-267
-
(2004)
Am J Hematol
, vol.77
, Issue.3
, pp. 257-267
-
-
Velazquez, I.1
Alter, B.P.2
-
65
-
-
34548153469
-
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor
-
Giri N., Pitel P.A., Green D., et al. 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
-
66
-
-
0031010068
-
Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin
-
Alter B.P., Gardner F.H., and Hall R.E. Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin. Br J Haematol 97 2 (1997) 309-311
-
(1997)
Br J Haematol
, vol.97
, Issue.2
, pp. 309-311
-
-
Alter, B.P.1
Gardner, F.H.2
Hall, R.E.3
-
67
-
-
0026095226
-
Late vascular complications after bone marrow transplantation for dyskeratosis congenita
-
Berthou C., Devergie A., D'Agay M.F., 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
-
68
-
-
62649109771
-
Dyskeratosis congenita: Low regimen-related toxicity following hematopoietic cell transplantation (HCT) using a reduced intensity conditioning regimen
-
Atlanta, GA, December 8-11
-
Tolar J, Orchard PJ, Miller JS, et al. Dyskeratosis congenita: low regimen-related toxicity following hematopoietic cell transplantation (HCT) using a reduced intensity conditioning regimen. ASH Annual Meeting, Atlanta, GA, December 8-11, 2007.
-
(2007)
ASH Annual Meeting
-
-
Tolar, J.1
Orchard, P.J.2
Miller, J.S.3
et al4
-
69
-
-
0344851536
-
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
-
Fogarty P.F., Yamaguchi H., Wiestner A., 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
|