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Dyskeratosis congenita in all its forms
被引:378
作者
:
Dokal, I
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Sch Med, Dept Haematol, London W2 0NN, England
Univ London Imperial Coll Sci Technol & Med, Sch Med, Dept Haematol, London W2 0NN, England
Dokal, I
[
1
]
机构
:
[1]
Univ London Imperial Coll Sci Technol & Med, Sch Med, Dept Haematol, London W2 0NN, England
来源
:
BRITISH JOURNAL OF HAEMATOLOGY
|
2000年
/ 110卷
/ 04期
关键词
:
aplastic anaemia;
bone marrow failure;
chromosomal instability;
dyskeratosis congenita;
Hoyeraal-Hreidarsson syndrome;
D O I
:
10.1046/j.1365-2141.2000.02109.x
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
[No abstract available]
引用
收藏
页码:768 / 779
页数:12
相关论文
共 95 条
[1]
AALFS CM, 1995, EUR J PEDIATR, V154, P304, DOI 10.1007/BF01957367
[2]
ALTER BP, 1992, BLOOD, V80, P3000
[3]
Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin
Alter, BP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Alter, BP
Gardner, RH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Gardner, RH
Hall, RE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Hall, RE
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1997,
97
(02)
: 309
-
311
[4]
Novel predicted RNA-binding domains associated with the translation machinery
Aravind, L
论文数:
0
引用数:
0
h-index:
0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
Aravind, L
Koonin, EV
论文数:
0
引用数:
0
h-index:
0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
Koonin, EV
[J].
JOURNAL OF MOLECULAR EVOLUTION,
1999,
48
(03)
: 291
-
302
[5]
DYSKERATOSIS-CONGENITA - 3 ADDITIONAL FAMILIES SHOW LINKAGE TO A LOCUS IN XQ28
ARNGRIMSSON, R
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
ARNGRIMSSON, R
DOKAL, I
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
DOKAL, I
LUZZATTO, L
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
LUZZATTO, L
CONNOR, JM
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
CONNOR, JM
[J].
JOURNAL OF MEDICAL GENETICS,
1993,
30
(07)
: 618
-
619
[6]
AUERBACH AD, 1998, GENETIC BASIS HUMAN, P317
[7]
The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of Psi(55) in both mitochondrial and cytoplasmic tRNAs
Becker, HF
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Becker, HF
Motorin, Y
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Motorin, Y
Planta, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Planta, RJ
Grosjean, H
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Grosjean, H
[J].
NUCLEIC ACIDS RESEARCH,
1997,
25
(22)
: 4493
-
4499
[8]
BERTHET F, 1994, EUR J PEDIATR, V153, P333
[9]
LATE VASCULAR COMPLICATIONS AFTER BONE-MARROW TRANSPLANTATION FOR DYSKERATOSIS-CONGENITA
BERTHOU, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
BERTHOU, C
DEVERGIE, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
DEVERGIE, A
DAGAY, MF
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
DAGAY, MF
SONSINO, E
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
SONSINO, E
SCROBOHACI, ML
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
SCROBOHACI, ML
LOIRAT, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
LOIRAT, C
GLUCKMAN, E
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
GLUCKMAN, E
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1991,
79
(02)
: 335
-
344
[10]
The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3
Cadwell, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Cadwell, C
Yoon, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Yoon, HJ
Zebarjadian, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Zebarjadian, Y
Carbon, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Carbon, J
[J].
MOLECULAR AND CELLULAR BIOLOGY,
1997,
17
(10)
: 6175
-
6183
←
1
2
3
4
5
6
7
8
9
10
→
共 95 条
[1]
AALFS CM, 1995, EUR J PEDIATR, V154, P304, DOI 10.1007/BF01957367
[2]
ALTER BP, 1992, BLOOD, V80, P3000
[3]
Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin
Alter, BP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Alter, BP
Gardner, RH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Gardner, RH
Hall, RE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,MED BRANCH,DIV PEDIAT HEMATOL ONCOL,DEPT PEDIAT,GALVESTON,TX 77555
Hall, RE
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1997,
97
(02)
: 309
-
311
[4]
Novel predicted RNA-binding domains associated with the translation machinery
Aravind, L
论文数:
0
引用数:
0
h-index:
0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
Aravind, L
Koonin, EV
论文数:
0
引用数:
0
h-index:
0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
Koonin, EV
[J].
JOURNAL OF MOLECULAR EVOLUTION,
1999,
48
(03)
: 291
-
302
[5]
DYSKERATOSIS-CONGENITA - 3 ADDITIONAL FAMILIES SHOW LINKAGE TO A LOCUS IN XQ28
ARNGRIMSSON, R
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
ARNGRIMSSON, R
DOKAL, I
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
DOKAL, I
LUZZATTO, L
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
LUZZATTO, L
CONNOR, JM
论文数:
0
引用数:
0
h-index:
0
机构:
DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND
CONNOR, JM
[J].
JOURNAL OF MEDICAL GENETICS,
1993,
30
(07)
: 618
-
619
[6]
AUERBACH AD, 1998, GENETIC BASIS HUMAN, P317
[7]
The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of Psi(55) in both mitochondrial and cytoplasmic tRNAs
Becker, HF
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Becker, HF
Motorin, Y
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Motorin, Y
Planta, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Planta, RJ
Grosjean, H
论文数:
0
引用数:
0
h-index:
0
机构:
CNRS, LAB ENZYMOL & BIOCHIM STRUCT, F-91198 GIF SUR YVETTE, FRANCE
Grosjean, H
[J].
NUCLEIC ACIDS RESEARCH,
1997,
25
(22)
: 4493
-
4499
[8]
BERTHET F, 1994, EUR J PEDIATR, V153, P333
[9]
LATE VASCULAR COMPLICATIONS AFTER BONE-MARROW TRANSPLANTATION FOR DYSKERATOSIS-CONGENITA
BERTHOU, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
BERTHOU, C
DEVERGIE, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
DEVERGIE, A
DAGAY, MF
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
DAGAY, MF
SONSINO, E
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
SONSINO, E
SCROBOHACI, ML
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
SCROBOHACI, ML
LOIRAT, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
LOIRAT, C
GLUCKMAN, E
论文数:
0
引用数:
0
h-index:
0
机构:
HOP ST LOUIS,BONE MARROW TRANSPLANT UNIT,F-75475 PARIS,FRANCE
GLUCKMAN, E
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1991,
79
(02)
: 335
-
344
[10]
The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3
Cadwell, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Cadwell, C
Yoon, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Yoon, HJ
Zebarjadian, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Zebarjadian, Y
Carbon, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
UNIV CALIF SANTA BARBARA,DEPT MOL CELLULAR & DEV BIOL,SANTA BARBARA,CA 93106
Carbon, J
[J].
MOLECULAR AND CELLULAR BIOLOGY,
1997,
17
(10)
: 6175
-
6183
←
1
2
3
4
5
6
7
8
9
10
→