-
1
-
-
0000605996
-
Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris
-
F. Zinsser Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris Ikonogr Dermatol (Hyoto) 5 1906 219 223
-
(1906)
Ikonogr Dermatol (Hyoto)
, vol.5
, pp. 219-223
-
-
Zinsser, F.1
-
2
-
-
0000757535
-
A unique case of reticular pigmentation of the skin with atrophy
-
M.F. Engman A unique case of reticular pigmentation of the skin with atrophy Arch Dermatol Syphiligr 13 1926 685 687
-
(1926)
Arch Dermatol Syphiligr
, vol.13
, pp. 685-687
-
-
Engman, M.F.1
-
3
-
-
0002924576
-
Dyskeratosis congenital with pigmentation, dystrophia unguis and leukokeratosis oris
-
H.N. Cole, J.C. Rauschkollo, and J. Toomey Dyskeratosis congenital with pigmentation, dystrophia unguis and leukokeratosis oris Arch Dermatol Syphiligr 21 1930 71 95
-
(1930)
Arch Dermatol Syphiligr
, vol.21
, pp. 71-95
-
-
Cole, H.N.1
Rauschkollo, J.C.2
Toomey, J.3
-
4
-
-
0023879015
-
Dyskeratosis congenita. Report of a case and review of the literature
-
G.R. Ogden, E. Connor, and D.M. Chisholm Dyskeratosis congenita. Report of a case and review of the literature Oral Surg Oral Med Oral Pathol 65 1988 586 591
-
(1988)
Oral Surg Oral Med Oral Pathol
, vol.65
, pp. 586-591
-
-
Ogden, G.R.1
Connor, E.2
Chisholm, D.M.3
-
5
-
-
0033754823
-
Dyskeratosis congenital in all its forms
-
I. Dokal Dyskeratosis congenital in all its forms Br J Haematol 110 2000 768 779
-
(2000)
Br J Haematol
, vol.110
, pp. 768-779
-
-
Dokal, I.1
-
6
-
-
0016727683
-
Dyskeratosis congenita: Clinical features and genetic aspects: Report of a family and review of the literature
-
C. Sirinavin, and A.A. Trowbridge Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature J Med Genet 12 1975 339 354
-
(1975)
J Med Genet
, vol.12
, pp. 339-354
-
-
Sirinavin, C.1
Trowbridge, A.A.2
-
8
-
-
0030097639
-
Dyskeratosis congenita: An inherited bone marrow failure syndrome
-
I. Dokal Dyskeratosis congenita: an inherited bone marrow failure syndrome Br J Haematol 92 1996 775 779
-
(1996)
Br J Haematol
, vol.92
, pp. 775-779
-
-
Dokal, I.1
-
9
-
-
0015090724
-
Dyskeratosis congenita
-
H. Cannell Dyskeratosis congenita Br J Oral Surg 9 1971 8 10
-
(1971)
Br J Oral Surg
, vol.9
, pp. 8-10
-
-
Cannell, H.1
-
10
-
-
0344818372
-
Dyskeratosis congenita. a case with new features
-
H. Milgrom, H.L. Stoll, and J.T. Crissey Dyskeratosis congenita. A case with new features Arch Dermatol 89 1964 345 349
-
(1964)
Arch Dermatol
, vol.89
, pp. 345-349
-
-
Milgrom, H.1
Stoll, H.L.2
Crissey, J.T.3
-
11
-
-
0015667466
-
Dyskeratosis congenita with pancytopenia. Another constitutional anaemia
-
S. Inoue, G. Mekarrik, M. Mahallat, and W.W. Zuelzer Dyskeratosis congenita with pancytopenia. Another constitutional anaemia Am J Dis Child 126 1973 384 389
-
(1973)
Am J Dis Child
, vol.126
, pp. 384-389
-
-
Inoue, S.1
Mekarrik, G.2
Mahallat, M.3
Zuelzer, W.W.4
-
14
-
-
13044307844
-
Dyskeratosis congenita. First report of its occurrence in a female and a review of the literature
-
J.M. Sorrow, and J.M. Hitch Dyskeratosis congenita. First report of its occurrence in a female and a review of the literature Arch Dermatol 86 1963 114 115
-
(1963)
Arch Dermatol
, vol.86
, pp. 114-115
-
-
Sorrow, J.M.1
Hitch, J.M.2
-
15
-
-
84943723686
-
Dyskeratosis in a girl simulating chronic graft vs host disease
-
N.S. Ling, N.A. Fenske, R.L. Julius, C.G. Espinoza, and L.A. Drake Dyskeratosis in a girl simulating chronic graft vs host disease Arch Dermatol 121 1985 1424 1428
-
(1985)
Arch Dermatol
, vol.121
, pp. 1424-1428
-
-
Ling, N.S.1
Fenske, N.A.2
Julius, R.L.3
Espinoza, C.G.4
Drake, L.A.5
-
17
-
-
0025804124
-
Lingual hyperkeratosis in dyskeratosis congenita: Preliminary ultrastructural report
-
G.S. McKay, G.R. Ogden, and D.M. Chisholm Lingual hyperkeratosis in dyskeratosis congenita: preliminary ultrastructural report J Oral Path Med 20 1991 196 199
-
(1991)
J Oral Path Med
, vol.20
, pp. 196-199
-
-
McKay, G.S.1
Ogden, G.R.2
Chisholm, D.M.3
-
18
-
-
0027530976
-
P53 expression in dyskeratosis congenita: A marker for oral premalignancy?
-
G.R. Ogden, D.P. Lane, and D.M. Chisholm p53 expression in dyskeratosis congenita: a marker for oral premalignancy? J Clin Pathol 46 1993 169 170
-
(1993)
J Clin Pathol
, vol.46
, pp. 169-170
-
-
Ogden, G.R.1
Lane, D.P.2
Chisholm, D.M.3
-
19
-
-
0026639761
-
Cytokeratin profiles in dyskeratosis congenita: An immunocytochemical investigation of lingual hyperkeratosis
-
G.R. Ogden, D.M. Chisholm, I.M. Leigh, and E.B. Lane Cytokeratin profiles in dyskeratosis congenita: an immunocytochemical investigation of lingual hyperkeratosis J Oral Pathol Med 21 1992 353 357
-
(1992)
J Oral Pathol Med
, vol.21
, pp. 353-357
-
-
Ogden, G.R.1
Chisholm, D.M.2
Leigh, I.M.3
Lane, E.B.4
-
20
-
-
0019806769
-
Dyskeratosis congenita. Report of a large kindred
-
J.M. Connor, and R.H. Teague Dyskeratosis congenita. Report of a large kindred Br J Dermatol 105 1981 321 325
-
(1981)
Br J Dermatol
, vol.105
, pp. 321-325
-
-
Connor, J.M.1
Teague, R.H.2
-
21
-
-
0032424906
-
Dyskeratosis congenita (DC) registry: Identification of new features of DC
-
S. Knight, T. Vulliamy, A. Copplestone, E. Gluckman, P. Mason, and I. Dokal Dyskeratosis congenita (DC) registry: identification of new features of DC Br J Haematol 103 1998 990 996
-
(1998)
Br J Haematol
, vol.103
, pp. 990-996
-
-
Knight, S.1
Vulliamy, T.2
Copplestone, A.3
Gluckman, E.4
Mason, P.5
Dokal, I.6
-
22
-
-
0019369222
-
Thrombocytopenia: First symptom in a patient with dyskeratosis congenita
-
K. De Boeck, H. Degreef, R. Verwilghen, L. Corbeel, and M. Casteels-Van Daele Thrombocytopenia: first symptom in a patient with dyskeratosis congenita Pediatrics 67 1981 898 903
-
(1981)
Pediatrics
, vol.67
, pp. 898-903
-
-
De Boeck, K.1
Degreef, H.2
Verwilghen, R.3
Corbeel, L.4
Casteels-Van Daele, M.5
-
24
-
-
0026785789
-
Dyskeratosis congenita: Delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation
-
R.J. Philips, M. Judge, and D. Webb Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation Br J Dermatol 127 1992 278 280
-
(1992)
Br J Dermatol
, vol.127
, pp. 278-280
-
-
Philips, R.J.1
Judge, M.2
Webb, D.3
-
25
-
-
0020430467
-
Occular findings in dyskeratosis congenita
-
J.K. Chambers, and C.F. Salinas Occular findings in dyskeratosis congenita Birth Defects 18 1982 167 174
-
(1982)
Birth Defects
, vol.18
, pp. 167-174
-
-
Chambers, J.K.1
Salinas, C.F.2
-
26
-
-
0020052851
-
Dyskeratosis congenita: Radiological features
-
T.E. Kelly, and C.B. Stelling Dyskeratosis congenita: radiological features Paediatr Radiol 12 1982 31 36
-
(1982)
Paediatr Radiol
, vol.12
, pp. 31-36
-
-
Kelly, T.E.1
Stelling, C.B.2
-
27
-
-
0022609946
-
Avascular necrosis of bone in dyskeratosis congenita
-
R.E. Kalb, M.E. Grossman, and C. Hutt Avascular necrosis of bone in dyskeratosis congenita Am J Med 80 1986 511 513
-
(1986)
Am J Med
, vol.80
, pp. 511-513
-
-
Kalb, R.E.1
Grossman, M.E.2
Hutt, C.3
-
28
-
-
0016238775
-
Dyskeratosis congenita with associated periodontal disease
-
C. Wald, and H. Diner Dyskeratosis congenita with associated periodontal disease Oral Surg Oral Med Oral Pathol 37 1974 736 744
-
(1974)
Oral Surg Oral Med Oral Pathol
, vol.37
, pp. 736-744
-
-
Wald, C.1
Diner, H.2
-
29
-
-
0021264309
-
Dyskeratosis congenita, haematologic, cytogenic and dermatologic studies
-
P. Jacobs, N. Saye, W. Gordon, and M. Nelson Dyskeratosis congenita, haematologic, cytogenic and dermatologic studies Scand J Haematol 32 1984 461 468
-
(1984)
Scand J Haematol
, vol.32
, pp. 461-468
-
-
Jacobs, P.1
Saye, N.2
Gordon, W.3
Nelson, M.4
-
30
-
-
0020056235
-
The conditions manifesting taurodontism
-
R.J. Jorgenson The conditions manifesting taurodontism Am J Med Genet 11 1982 435 442
-
(1982)
Am J Med Genet
, vol.11
, pp. 435-442
-
-
Jorgenson, R.J.1
-
31
-
-
33645072584
-
Dyskeratosis congenita with pigmentation, dystrophia unguius and leukokeratosis oris
-
I.L. Schamberg Dyskeratosis congenita with pigmentation, dystrophia unguius and leukokeratosis oris Arch Dermatol 81 1960 266
-
(1960)
Arch Dermatol
, vol.81
, pp. 266
-
-
Schamberg, I.L.1
-
32
-
-
17144380033
-
Peripheral neuropathy-a novel finding in dyskeratosis congenita
-
P. Ip, R. Knight, I. Dokal, A.Y. Manzur, and F. Muntoni Peripheral neuropathy-a novel finding in dyskeratosis congenita Eur J Paediatr Neurol 9 2005 85 89
-
(2005)
Eur J Paediatr Neurol
, vol.9
, pp. 85-89
-
-
Ip, P.1
Knight, R.2
Dokal, I.3
Manzur, A.Y.4
Muntoni, F.5
-
33
-
-
12944293006
-
Dyskeratosis congenita in a adolescent girl with associated choanal atresia
-
E.V. Lener, W.L. Tom, and B.B. Cunningham Dyskeratosis congenita in a adolescent girl with associated choanal atresia Pediatr Dermatol 22 2005 31 35
-
(2005)
Pediatr Dermatol
, vol.22
, pp. 31-35
-
-
Lener, E.V.1
Tom, W.L.2
Cunningham, B.B.3
-
34
-
-
0242354776
-
Dyskeratosis congenita: Its link to telomerase and aplastic anaemia
-
I. Dokal, and T. Vulliamy Dyskeratosis congenita: its link to telomerase and aplastic anaemia Blood Rev 17 2003 217 225
-
(2003)
Blood Rev
, vol.17
, pp. 217-225
-
-
Dokal, I.1
Vulliamy, T.2
-
35
-
-
0022477628
-
Assignment of the gene for DC to Xq28
-
J.M. Connor, D. Gatherer, F.C. Gray, L.A. Pirrit, and N.A. Affara Assignment of the gene for DC to Xq28 Hum Genet 72 1986 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
-
36
-
-
0027216789
-
Dyskeratosis congenita: Three additional families show linkage to a locus in Xq28
-
R. Arngrimsson, I. Dokal, L. Luzzatto, and J.M. Connor Dyskeratosis congenita: three additional families show linkage to a locus in Xq28 J Med Genet 30 1993 618 619
-
(1993)
J Med Genet
, vol.30
, pp. 618-619
-
-
Arngrimsson, R.1
Dokal, I.2
Luzzatto, L.3
Connor, J.M.4
-
38
-
-
17344364484
-
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis
-
S.W. Knight, T.J. Vulliamy, and N.S. Heiss 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis J Med Genet 53 1998 993 996
-
(1998)
J Med Genet
, vol.53
, pp. 993-996
-
-
Knight, S.W.1
Vulliamy, T.J.2
Heiss, N.S.3
-
39
-
-
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 X linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet 19 1998 32 38
-
(1998)
Nat Genet
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
-
40
-
-
0032962316
-
Mapping and characterisation of X linked dyskeratosis congenita gene
-
S. Hassock, D. Vertrie, and F. Giannelli Mapping and characterisation of X linked dyskeratosis congenita gene Genomics 55 1999 21 27
-
(1999)
Genomics
, vol.55
, pp. 21-27
-
-
Hassock, S.1
Vertrie, D.2
Giannelli, F.3
-
41
-
-
0027182790
-
An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules
-
W. Jiang, K. Middleton, H.J. Yoon, C. Fouquet, and J. Carbon An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules Mol Cell Biol 13 8 1993 4884 4893
-
(1993)
Mol Cell Biol
, vol.13
, Issue.8
, pp. 4884-4893
-
-
Jiang, W.1
Middleton, K.2
Yoon, H.J.3
Fouquet, C.4
Carbon, J.5
-
42
-
-
0033362103
-
X linked dyskeratosis congenital is predominantly caused by missense mutations in the DKC1 gene
-
S.W. Knight, N.S. Heiss, and T.J. Vulliamy X linked dyskeratosis congenital is predominantly caused by missense mutations in the DKC1 gene Am J Hum Genet 65 1999 50 58
-
(1999)
Am J Hum Genet
, vol.65
, pp. 50-58
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
43
-
-
0033566881
-
Dyskeratosis congenita caused by a 3′ deletion: Germline and somatic mosaicism in a female carrier
-
T.J. Vulliamy, S.W. Knight, and N.S. Heiss Dyskeratosis congenita caused by a 3′ deletion: germline and somatic mosaicism in a female carrier Blood 94 1999 1254 1260
-
(1999)
Blood
, vol.94
, pp. 1254-1260
-
-
Vulliamy, T.J.1
Knight, S.W.2
Heiss, N.S.3
-
44
-
-
0035002944
-
Identification of novel DKC1 mutations in patients with dyskeratosis congenital: Implications for pathophysiology and diagnosis
-
S.W. Knight, T.J. Vulliamy, and B. Morgan Identification of novel DKC1 mutations in patients with dyskeratosis congenital: implications for pathophysiology and diagnosis Hum Genet 108 2001 299 303
-
(2001)
Hum Genet
, vol.108
, pp. 299-303
-
-
Knight, S.W.1
Vulliamy, T.J.2
Morgan, B.3
-
45
-
-
0034958530
-
One novel and 2 recurrent misuse DKC1 mutations in patients with dyskeratosis congenital
-
N.S. Heiss, A. Megarbane, and S.M. Klauk One novel and 2 recurrent misuse DKC1 mutations in patients with dyskeratosis congenital Genet Counsel 12 2001 129 136
-
(2001)
Genet Counsel
, vol.12
, pp. 129-136
-
-
Heiss, N.S.1
Megarbane, A.2
Klauk, S.M.3
-
46
-
-
0036707985
-
A novel missense mutation in the DKC1 gene in a Japanese family with X linked dyskeratosis congenital
-
H. Hiramatsu, T. Fujii, and T. Kitoh A novel missense mutation in the DKC1 gene in a Japanese family with X linked dyskeratosis congenital Paediatr Hematol Oncol 19 2002 413 419
-
(2002)
Paediatr Hematol Oncol
, vol.19
, pp. 413-419
-
-
Hiramatsu, H.1
Fujii, T.2
Kitoh, T.3
-
47
-
-
0030963268
-
Function and synthesis of small nucleolar RNA's
-
D. Tollervey, and T. Kiss Function and synthesis of small nucleolar RNA's Curr Opin Cell Biol 9 1997 337 342
-
(1997)
Curr Opin Cell Biol
, vol.9
, pp. 337-342
-
-
Tollervey, D.1
Kiss, T.2
-
48
-
-
0036629250
-
RRNA modifications and ribosome function
-
W.A. Decatur, and M.J. Fournier rRNA modifications and ribosome function Trends Biochem Sci 27 7 2002 344 351
-
(2002)
Trends Biochem Sci
, vol.27
, Issue.7
, pp. 344-351
-
-
Decatur, W.A.1
Fournier, M.J.2
-
49
-
-
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 1999 567 576
-
(1999)
Mol Cell Biol
, vol.19
, pp. 567-576
-
-
Mitchell, J.R.1
Cheng, J.2
Collins, K.3
-
50
-
-
0036100182
-
Telomerase inhibition and the future management of head-and-neck cancer
-
J.A. McCaul, K.E. Gordon, L.J. Clark, and E.K. Parkinson Telomerase inhibition and the future management of head-and-neck cancer Lancet Oncol 3 5 2002 280 288
-
(2002)
Lancet Oncol
, vol.3
, Issue.5
, pp. 280-288
-
-
McCaul, J.A.1
Gordon, K.E.2
Clark, L.J.3
Parkinson, E.K.4
-
51
-
-
0030931491
-
Telomere shortening and tumor formation by mouse cells lacking telomerase RNA
-
M.A. Blasco, H.W. Lee, M.P. Hande, E. Samper, P.M. Lansdorp, and R.A. DePinho Telomere shortening and tumor formation by mouse cells lacking telomerase RNA Cell 91 1 1997 25 34
-
(1997)
Cell
, vol.91
, Issue.1
, pp. 25-34
-
-
Blasco, M.A.1
Lee, H.W.2
Hande, M.P.3
Samper, E.4
Lansdorp, P.M.5
Depinho, R.A.6
-
52
-
-
0033518188
-
A Telomerase component is defective in the human disease dyskeratosis congenital
-
J.R. Mitchell, E. Wood, and K. Collins A Telomerase component is defective in the human disease dyskeratosis congenital Nature 402 1999 551 555
-
(1999)
Nature
, vol.402
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
53
-
-
85077947951
-
Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation
-
in press.
-
Cerone MA, Ward RJ, Londono-Vallejo JA, Autexier C. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle in press.
-
Cell Cycle
-
-
Cerone, M.A.1
Ward, R.J.2
Londono-Vallejo, J.A.3
Autexier, C.4
-
54
-
-
5044251217
-
Telomerase RNA deficiency in peripheral blood mononuclear cells in X linked dyskeratosis congenital
-
J.M.Y. Wong, M.J. Kyana, L. Hutchins, and K. Collins Telomerase RNA deficiency in peripheral blood mononuclear cells in X linked dyskeratosis congenital Hum Genet 115 2004 448 455
-
(2004)
Hum Genet
, vol.115
, pp. 448-455
-
-
Wong, J.M.Y.1
Kyana, M.J.2
Hutchins, L.3
Collins, K.4
-
55
-
-
0034966374
-
Very short telomeres in the peripheral blood of patients with X linked and autosomal dominant dyskeratosis congenital
-
T.J. Vulliamy, S.W. Knight, and P.J. Mason Very short telomeres in the peripheral blood of patients with X linked and autosomal dominant dyskeratosis congenital Blood Cell Mol Dis 27 2001 353 357
-
(2001)
Blood Cell Mol Dis
, vol.27
, pp. 353-357
-
-
Vulliamy, T.J.1
Knight, S.W.2
Mason, P.J.3
-
56
-
-
0037428129
-
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification
-
D. Ruggero, S. Grisendi, F. Piazza, E. Rego, F. Mari, and P.H. Rao Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification Science 299 5604 2003 259 262
-
(2003)
Science
, vol.299
, Issue.5604
, pp. 259-262
-
-
Ruggero, D.1
Grisendi, S.2
Piazza, F.3
Rego, E.4
Mari, F.5
Rao, P.H.6
-
57
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital
-
T.J. Vulliamy, A. Marrone, and F. Goldman The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital Nature 413 2001 432 435
-
(2001)
Nature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.J.1
Marrone, A.2
Goldman, F.3
-
58
-
-
0034632717
-
Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice
-
S.E. Artundi, S. Chang, and S.L. Lee Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice Nature 406 2000 641 645
-
(2000)
Nature
, vol.406
, pp. 641-645
-
-
Artundi, S.E.1
Chang, S.2
Lee, S.L.3
-
59
-
-
0037309155
-
Telomeres and cancer: A tale with many endings
-
M.A. Blasco Telomeres and cancer: a tale with many endings Curr Opin Genet Dev 13 2003 70 76
-
(2003)
Curr Opin Genet Dev
, vol.13
, pp. 70-76
-
-
Blasco, M.A.1
-
60
-
-
0344874270
-
YNMG tetraloop formation by a DC mutation in human telomerase RNA
-
C.A. Theimer, L.D. Finger, and J. Feigon YNMG tetraloop formation by a DC mutation in human telomerase RNA RNA 9 2003 1446 1455
-
(2003)
RNA
, vol.9
, pp. 1446-1455
-
-
Theimer, C.A.1
Finger, L.D.2
Feigon, J.3
-
61
-
-
0038392866
-
Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNA's
-
D. Fu, and K. Collins Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNA's Mol Cell 11 2003 1361 1372
-
(2003)
Mol Cell
, vol.11
, pp. 1361-1372
-
-
Fu, D.1
Collins, K.2
-
62
-
-
0141557781
-
Comprehensive structure-function analysis of the core domain of human telomerase RNA
-
H. Ly, E.H. Blackburn, and T.G. Parslow Comprehensive structure-function analysis of the core domain of human telomerase RNA Mol Cell Biol 23 2003 6849 6856
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6849-6856
-
-
Ly, H.1
Blackburn, E.H.2
Parslow, T.G.3
-
63
-
-
0345531140
-
Identification of a new RNA. RNA interaction site for human telomerase RNA (hTR): Structural implications for hTR accumulation and a dyskeratosis congenital point mutation
-
X. Ren, G. Gavory, H. Li, L. Ying, D. Klenerman, and S. Balasubramanian Identification of a new RNA. RNA interaction site for human telomerase RNA (hTR): structural implications for hTR accumulation and a dyskeratosis congenital point mutation Nucleic Acid Res 31 2003 6509 6515
-
(2003)
Nucleic Acid Res
, vol.31
, pp. 6509-6515
-
-
Ren, X.1
Gavory, G.2
Li, H.3
Ying, L.4
Klenerman, D.5
Balasubramanian, S.6
-
64
-
-
10244222239
-
Heterozygous telomerase RNA mutations found in dyskeratosis congenital and aplastic anaemia reduce telomerase activity via haploinsufficiency
-
A. Marrone, D. Stevens, T.J. Vulliamy, I. Dokal, and P.J. Mason Heterozygous telomerase RNA mutations found in dyskeratosis congenital and aplastic anaemia reduce telomerase activity via haploinsufficiency Blood 104 2004 3936 3942
-
(2004)
Blood
, vol.104
, pp. 3936-3942
-
-
Marrone, A.1
Stevens, D.2
Vulliamy, T.J.3
Dokal, I.4
Mason, P.J.5
-
65
-
-
0035959968
-
Testing telomerase
-
R. Marciniak, and L. Guarente Testing telomerase Nature 413 2001 370 373
-
(2001)
Nature
, vol.413
, pp. 370-373
-
-
Marciniak, R.1
Guarente, L.2
-
66
-
-
0036674425
-
Telomerase beyond telomeres
-
M.A. Blasco Telomerase beyond telomeres Nat Rev Cancer 2 8 2002 627 633
-
(2002)
Nat Rev Cancer
, vol.2
, Issue.8
, pp. 627-633
-
-
Blasco, M.A.1
-
67
-
-
0023731072
-
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
-
S. Hreidarsson, K. Kristjansson, G. Johannesson, and J.H. Jahannsson A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure Acta Paediatr Scand 77 1988 773 775
-
(1988)
Acta Paediatr Scand
, vol.77
, pp. 773-775
-
-
Hreidarsson, S.1
Kristjansson, K.2
Johannesson, G.3
Jahannsson, J.H.4
-
68
-
-
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 1970 185 191
-
(1970)
Acta Paediatr Scand
, vol.59
, pp. 185-191
-
-
Hoyeraal, H.M.1
Lamvik, J.2
Moe, P.J.3
-
69
-
-
0033929321
-
Overlap of dyskeratosis congenital with the Hoyeraal-Hreidarsson syndrome
-
R. Yaghmai, A. Kimyai-Asadi, K. Rostamiani, N.S. Heiss, A. Poustaka, and W. Eyaid Overlap of dyskeratosis congenital with the Hoyeraal-Hreidarsson syndrome J Pediatr 136 2000 390 393
-
(2000)
J Pediatr
, vol.136
, pp. 390-393
-
-
Yaghmai, R.1
Kimyai-Asadi, A.2
Rostamiani, K.3
Heiss, N.S.4
Poustaka, A.5
Eyaid, W.6
-
70
-
-
0036435057
-
A novel DKC1 mutation, severe combined immunodeficiency (T + B - NK - SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
-
F. Cossu, T.J. Vulliamy, A. Marrone, M. Badiali, A. Cao, and I. Dokal 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 119 2002 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
-
71
-
-
10744229510
-
Further delineation of the congenital form of X linked dyskeratosis congenital (Hoyeraal-Hreidarsson syndrome)
-
Y. Sznajer, C. Baumann, A. David, H. Journel, D. Lacombe, and Y. Perel Further delineation of the congenital form of X linked dyskeratosis congenital (Hoyeraal-Hreidarsson syndrome) Eur J Pediatr 162 2003 863 867
-
(2003)
Eur J Pediatr
, vol.162
, pp. 863-867
-
-
Sznajer, Y.1
Baumann, C.2
David, A.3
Journel, H.4
Lacombe, D.5
Perel, Y.6
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