-
1
-
-
0000605996
-
Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris
-
Zinsser F.: Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris. Ikonogr Dermatol Kyoto 1906, 5, 219-223.
-
(1906)
Ikonogr Dermatol Kyoto
, vol.5
, pp. 219-223
-
-
Zinsser, F.1
-
2
-
-
0031668537
-
Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes
-
Coulthard S., Chase A., Pickard J., Goldman J., Dokal I.: Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br J Haematol 1998, 102, 1162-1164.
-
(1998)
Br J Haematol
, vol.102
, pp. 1162-1164
-
-
Coulthard, S.1
Chase, A.2
Pickard, J.3
Goldman, J.4
Dokal, I.5
-
3
-
-
38349144367
-
Dyskeratosis congenita: A genetic disorder of many faces
-
Kirvan M., Dokal I.: Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet 2008, 73, 103-112.
-
(2008)
Clin Genet
, vol.73
, pp. 103-112
-
-
Kirvan, M.1
Dokal, I.2
-
4
-
-
0032424906
-
Dyskeratosis Congenita (DC) Registry: Identification of new features of DC
-
Knight S., Vulliamy T., Copplestone A., Gluckman E., Mason P., Dokal I.: Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol 1998, 103, 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
-
5
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
Dokal I.: Dyskeratosis congenita in all its forms. Br J Haematol 2000, 110, 768-769.
-
(2000)
Br J Haematol
, vol.110
, pp. 768-769
-
-
Dokal, I.1
-
6
-
-
36749012920
-
Dyskeratosis congenita: The diverse clinical presentation of mutations of the telomere complex
-
Vuliamy T., Dokal I.: Dyskeratosis congenita: the diverse clinical presentation of mutations of the telomere complex. Biochimie 2008, 90, 122-130.
-
(2008)
Biochimie
, vol.90
, pp. 122-130
-
-
Vuliamy, T.1
Dokal, I.2
-
7
-
-
25444519237
-
Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation
-
Cerone M., Ward R., Londono-Vallejo J., Autexier C.: Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle 2005, 4, 585-589.
-
(2005)
Cell Cycle
, vol.4
, pp. 585-589
-
-
Cerone, M.1
Ward, R.2
Londono-Vallejo, J.3
Autexier, C.4
-
8
-
-
34547410832
-
Advances in the understanding of the telomerase defect and the role of stem cell transplantation
-
De la Fuente J., Dokal I.: Advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplantation 2007, 11, 584-594.
-
(2007)
Pediatr Transplantation
, vol.11
, pp. 584-594
-
-
De la Fuente, J.1
Dokal, I.2
-
9
-
-
0037359206
-
Dyskeratosis congenita associated with three malignancies
-
Baycal C., Kavak A., Gulcan P., Buyukbabani N.: Dyskeratosis congenita associated with three malignancies. JEADV 2003, 17, 216-218.
-
(2003)
JEADV
, vol.17
, pp. 216-218
-
-
Baycal, C.1
Kavak, A.2
Gulcan, P.3
Buyukbabani, N.4
-
10
-
-
45249084528
-
Oral and dental phenotype of dyskeratosis congenita
-
Atkinson J., Harvey K., Domingo D., Trujillo M., Guadagnini J., Collins S. i inni: Oral and dental phenotype of dyskeratosis congenita. Oral Dis 2008, 14, 419-427.
-
(2008)
Oral Dis
, vol.14
, pp. 419-427
-
-
Atkinson, J.1
Harvey, K.2
Domingo, D.3
Trujillo, M.4
Guadagnini, J.5
Collins, S.6
-
11
-
-
45249109165
-
Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in 37-year-old-man
-
Reimann C., Kloeckener-Gruissem B., Niemeyer C., Vanscheidt W.: Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in 37-year-old-man. JEADV 2008, 22, 897-898.
-
(2008)
JEADV
, vol.22
, pp. 897-898
-
-
Reimann, C.1
Kloeckener-Gruissem, B.2
Niemeyer, C.3
Vanscheidt, W.4
-
12
-
-
34347343718
-
Mutations of telomerase complex genes linked to bone marrow failures
-
Yamaguchi H.: Mutations of telomerase complex genes linked to bone marrow failures. J Nippon Med Sch 2007, 74, 201-210.
-
(2007)
J Nippon Med Sch
, vol.74
, pp. 201-210
-
-
Yamaguchi, H.1
-
13
-
-
33748891280
-
Dyskeratosis congenita associated with schizophrenia and two malignancies
-
Mahiques L., Febrer I., Vilata J., Fortea J.: Dyskeratosis congenita associated with schizophrenia and two malignancies. JEADV 2006, 20, 1159-1161.
-
(2006)
JEADV
, vol.20
, pp. 1159-1161
-
-
Mahiques, L.1
Febrer, I.2
Vilata, J.3
Fortea, J.4
-
14
-
-
0026555482
-
Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita
-
Kehrer H., Krone W., Schindler D., Kaufmann R., Schrezenmeier H.: Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 1992, 41, 129-134.
-
(1992)
Clin Genet
, vol.41
, pp. 129-134
-
-
Kehrer, H.1
Krone, W.2
Schindler, D.3
Kaufmann, R.4
Schrezenmeier, H.5
|