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index medicus (575) 575
humans (537) 537
dyskeratosis-congenita (307) 307
male (234) 234
telomerase (229) 229
animals (182) 182
mutation (181) 181
female (172) 172
dyskeratosis congenita - genetics (165) 165
dyskeratosis congenita (163) 163
telomerase - genetics (138) 138
mutations (134) 134
telomeres (132) 132
cancer (129) 129
cell biology (124) 124
dyskeratosis congenita - pathology (124) 124
hematology (124) 124
adult (121) 121
telomerase - metabolism (118) 118
telomere - genetics (107) 107
aplastic-anemia (102) 102
mice (100) 100
telomere - metabolism (94) 94
child (91) 91
genetic aspects (90) 90
genetics & heredity (90) 90
oncology (90) 90
telomere (88) 88
research (84) 84
article (83) 83
reverse-transcriptase (81) 81
adolescent (76) 76
nuclear proteins - genetics (74) 74
stem cells (73) 73
biochemistry & molecular biology (72) 72
aging (71) 71
bone marrow (69) 69
gene (69) 69
bone-marrow failure (68) 68
cell cycle proteins - genetics (68) 68
middle aged (68) 68
child, preschool (67) 67
chromosomes (65) 65
disease (65) 65
proteins (64) 64
genetics (63) 63
rna (63) 63
abridged index medicus (60) 60
neoplasms - genetics (60) 60
length (57) 57
dyskeratosis congenita - complications (55) 55
rna - genetics (53) 53
dna damage (52) 52
linked dyskeratosis-congenita (50) 50
pathology (49) 49
aged (48) 48
cellular senescence (48) 48
deoxyribonucleic acid--dna (48) 48
dyskeratosis congenita - diagnosis (47) 47
telomere - pathology (47) 47
phenotype (46) 46
cells (45) 45
cell proliferation (44) 44
dyskeratosis (44) 44
medicine (44) 44
risk factors (44) 44
senescence (44) 44
dna (43) 43
research article (43) 43
apoptosis (42) 42
health aspects (42) 42
infant (42) 42
physiological aspects (42) 42
pulmonary fibrosis (42) 42
analysis (41) 41
gene mutations (41) 41
multidisciplinary sciences (41) 41
telomere-binding proteins - genetics (41) 41
anemia (40) 40
component (40) 40
dna-damage (40) 40
dominant dyskeratosis-congenita (40) 40
gene expression (40) 40
pedigree (40) 40
stem-cells (40) 40
dyskeratosis congenita - metabolism (39) 39
biology (38) 38
idiopathic pulmonary-fibrosis (38) 38
nuclear proteins - metabolism (38) 38
syndrome (38) 38
bone marrow failure (36) 36
genes (36) 36
hoyeraal-hreidarsson-syndrome (36) 36
mutation - genetics (36) 36
neoplasms - pathology (36) 36
review (36) 36
aplastic anemia (35) 35
diagnosis (35) 35
telomere length (35) 35
young adult (35) 35
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Journal Article
FEBS Letters, ISSN 0014-5793, 09/2010, Volume 584, Issue 17, pp. 3831 - 3838
Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure (BMF) syndrome associated with distinct mucocutaneous features.... 
Dyskeratosis congenita | Anticipation | Pulmonary fibrosis | Telomerase | Telomere | Aplastic anemia | AML | bone marrow failure | telomeric repeat binding factor 1 | telomeric repeat binding factor 2 | osteoporosis | protection of telomeres 1 | TRF2 | TRF1 | dyskeratosis congenita | HHS | acute myeloid leukemia | pulmonary fibrosis | POT1 | TRF1-interacting nuclear factor | BMF | Hoyeraal Hreidarrson syndrome | myelodysplastic syndrome | MDS | TIN2 | RNA | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | FUNCTIONAL-CHARACTERIZATION | TERMINAL TRANSFERASE | CELL BIOLOGY | BIOPHYSICS | CLINICAL PRESENTATION | HUMAN FIBROBLASTS | MUTATIONS | TELOMERASE REVERSE-TRANSCRIPTASE | APLASTIC-ANEMIA | PULMONARY-FIBROSIS | Cell Division - genetics | Telomere - ultrastructure | Humans | Middle Aged | Genetic Diseases, Inborn - genetics | Dyskeratosis Congenita - genetics | Telomere-Binding Proteins - genetics | Telomerase - genetics | Aging - physiology | Neoplasms - genetics | Bone Marrow - pathology | Genetic Diseases, Inborn - enzymology | Dyskeratosis Congenita - pathology | Adult | Telomerase - metabolism | Aged | Mutation | Infant, Newborn | Neoplasms - epidemiology | Telomere - genetics | Osteoporosis | Respiratory tract diseases | Anemia | Leukemia | Index Medicus | aplastic anemia | telomerase | anticipation | telomere
Journal Article
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 09/2013, Volume 110, Issue 36, pp. E3408 - E3416
Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by... 
Aging | Dyskeratosis congenita | Genomic instability | Telomeropathies | CELLS | COMPLEX | SEVERE DYSKERATOSIS-CONGENITA | MULTIDISCIPLINARY SCIENCES | LENGTH | MOUSE | telomeropathies | dyskeratosis congenita | GENOME INSTABILITY | AMPLIFICATION | GENE | aging | genomic instability | PROTEINS | BONE-MARROW FAILURE | Cell Proliferation | Microcephaly - genetics | Humans | Telomeric Repeat Binding Protein 1 - genetics | Telomeric Repeat Binding Protein 1 - metabolism | Family Health | Fetal Growth Retardation - genetics | Male | Dyskeratosis Congenita - genetics | Telomere Shortening - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Base Sequence | Microcephaly - pathology | Female | Dyskeratosis Congenita - metabolism | DNA Helicases - genetics | Genomic Instability - genetics | Telomere - genetics | Gene Expression | Cells, Cultured | Intellectual Disability - pathology | Microcephaly - metabolism | In Situ Hybridization, Fluorescence | Fetal Growth Retardation - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Fetal Growth Retardation - pathology | DNA Helicases - metabolism | Animals | Pedigree | Dyskeratosis Congenita - pathology | Mice | HeLa Cells | Mutation | Enzymes | DNA damage | Genomics | Cell division | Gene expression | Binding sites | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2013, Volume 9, Issue 8, pp. e1003695 - e1003695
Journal Article
Journal Article
Genes and Development, ISSN 0890-9369, 10/2014, Volume 28, Issue 19, pp. 2090 - 2102
Journal Article