Cited by 262Blood disorders and treatmentsTelomeres, Telomerase, and SenescenceImmunodeficiency and Autoimmune Disorders

The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.

Dyskeratosis Congenita

Open access

Savage, Sharon A., Alter, Blanche P.·2009·Hematology/Oncology Clinics of North America

DOI 10.1016/j.hoc.2009.01.003PMC PMC2702847

Open this paper in CoChat — free account

Abstract

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1016/j.hoc.2009.01.003

Cites

67 of 67 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066157 · Cited by 1,357
Telomeres and Aging
Aubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
A telomerase component is defective in the human disease dyskeratosis congenita
Mitchell, J. R., Wood, E., & Collins, K. (1999) · Nature · doi:10.1038/990141 · Cited by 1,168
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., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics · doi:10.1038/ng0598-32 · Cited by 976
Adult-onset pulmonary fibrosis caused by mutations in telomerase
Tsakiri, K. D., Cronkhite, J. T., Kuan, P. J., Xing, C., Raghu, G., Weissler, J. C., Rosenblatt, R. L., Shay, J. W., & Garcia, C. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701009104 · Cited by 894 · cited 3×
“found in patients who had AD and AR DC, in patients who had aplastic anemia and no other signs of DC, and in patients who had pulmonary fibrosis.(18,28,29,30,31,32) The variability in clinical features in patients who had TERC or TERT mutations suggests the”
Background
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
Alder, J. K., Chen, J. J.-L., Lancaster, L., Danoff, S., Su, S.-C., Cogan, J. D., Vulto, I., Xie, M., Qi, X., Tuder, R. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804280105 · Cited by 805
Genetic determination of telomere size in humans: a twin study of three age groups.
Slagboom, P. E., Droog, S., & Boomsma, D. I. (1994) · PubMed Central · Cited by 734
Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Yamaguchi, H., Calado, R. T., Ly, H., Kajigaya, S., Baerlocher, G. M., Chanock, S. J., Lansdorp, P. M., & Young, N. S. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa042980 · Cited by 723
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., Brümmendorf, T. H., Kolvraa, S., Bischoff, C., Christensen, K., Wadsworth, L., Schulzer, M., & Lansdorp, P. M. (1999) · The Journal of Experimental Medicine · doi:10.1084/jem.190.2.157 · Cited by 709
The rate of telomere sequence loss in human leukocytes varies with age
Frenck, R. W., Blackburn, E. H., & Shannon, K. M. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.10.5607 · Cited by 675
Dyskeratosis congenita in all its forms
Dokal, I. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.02109.x · Cited by 575
Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry
Rufer, N., Dragowska, W. H., Thornbury, G., Roosnek, E. E., & Lansdorp, P. M. (1998) · Nature Biotechnology · doi:10.1038/nbt0898-743 · Cited by 551
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics · doi:10.1038/ng1346 · Cited by 461
Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
Armanios, M., Chen, J.-L., Chang, Y.-P. C., Brodsky, R. A., Hawkins, A., Griffin, C. A., Eshleman, J. R., Cohen, A. R., Chakravarti, A., Hamosh, A., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508124102 · Cited by 452
TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., & Alter, B. P. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.004 · Cited by 414
Self-citation
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
Alter, B. P., Baerlocher, G. M., Savage, S. A., Chanock, S. J., Weksler, B. B., Willner, J. P., Peters, J. A., Giri, N., & Lansdorp, P. M. (2007) · Blood · doi:10.1182/blood-2007-02-075598 · Cited by 356
Self-citation
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
Vulliamy, T., Marrone, A., Knight, S. W., Walne, A. J., Mason, P. J., & Dokal, I. S. (2005) · Blood · doi:10.1182/blood-2005-07-2622 · Cited by 347
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., & Dokal, I. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800042105 · Cited by 334
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., Kirwan, M., & Dokal, I. (2008) · Blood · doi:10.1182/blood-2008-05-153445 · Cited by 317
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., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.-H., Aljurf, M., & Dokal, I. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm111 · Cited by 316
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S. (2003) · Blood · doi:10.1182/blood-2003-01-0335 · Cited by 301
Progressive Telomere Shortening in Aplastic Anemia
Ball, S. E., Gibson, F. M., Rizzo, S., Tooze, J. A., Marsh, J. C. W., & Gordon‐Smith, E. C. (1998) · Blood · doi:10.1182/blood.v91.10.3582 · Cited by 288
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
Fogarty, P. F., Yamaguchi, H., Wiestner, A., Baerlocher, G. M., Sloand, E., Zeng, W. S., Read, E. J., Lansdorp, P. M., & Young, N. S. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14797-6 · Cited by 277
Aplastic Anemia: Acquired and Inherited
Alter, B. P., & Young, N. S. (1994) · Medical Entomology and Zoology · Cited by 259
Self-citation
Androgens and liver tumors: Fanconi's anemia and non‐Fanconi's conditions
Velazquez, I., & Alter, B. P. (2004) · American Journal of Hematology · doi:10.1002/ajh.20183 · Cited by 234
Self-citation
Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes
Alter, B. P. (2007) · Hematology · doi:10.1182/asheducation-2007.1.29 · Cited by 230
Self-citation
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
Vulliamy, T., Walne, A. J., Baskaradas, A., Mason, P. J., Marrone, A., & Dokal, I. S. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2004.12.008 · Cited by 212
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenitaPreprint
Wong, J. M. Y., & Collins, K. (2006) · Genes & Development · doi:10.1101/gad.1476206 · Cited by 208
Rapid Telomere Shortening in Children
Zeichner, S. L., Palumbo, P. E., Feng, Y., Xiao, X., Gee, D., Sleasman, J. W., Goodenow, M. M., Biggar, R. J., & Dimitrov, D. S. (1999) · Blood · doi:10.1182/blood.v93.9.2824.409k18_2824_2830 · Cited by 195
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
Marrone, A., Walne, A. J., Tamary, H., Masunari, Y., Kirwan, M., Beswick, R. W., Vulliamy, T., & Dokal, I. S. (2007) · Blood · doi:10.1182/blood-2006-12-062851 · Cited by 181
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., An, P., Maziarz, R. T., Reiss, U. M., Chirnomas, D., Shimamura, A., Vlachos, A., Lipton, J. M., et al. (2009) · Blood · doi:10.1182/blood-2008-07-166421 · Cited by 158
DYSKERATOSIS CONGENITA WITH PIGMENTATION, DYSTROPHIA UNGUIS AND LEUKOKERATOSIS ORIS
COLE, H. N. (1930) · Archives of Dermatology · doi:10.1001/archderm.1930.01440070079008 · Cited by 150
CONGENITAL HYPOPLASTIC THROMBOCYTOPENIA AND CEREBRAL MALFORMATIONS IN TWO BROTHERS
Høyeraal, H. M., Lamvik, J. O., & Moe, P. J. (1970) · Acta Paediatrica · doi:10.1111/j.1651-2227.1970.tb08986.x · Cited by 150
A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure
Hreiðarsson, S., Kristjánsson, K., JOHANNESSON, G., & Jóhannsson, J. H. (1988) · Acta Paediatrica · doi:10.1111/j.1651-2227.1988.tb10751.x · Cited by 125
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
Révész, T., Fletcher, S., Al-Gazali, L. I., & DeBuse, P. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.9.673 · Cited by 123
Dyskeratosis Congenita
Vulliamy, T., & Dokal, I. S. (2006) · Seminars in Hematology · doi:10.1053/j.seminhematol.2006.04.001 · Cited by 122
Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation
De La Fuente, J., & Dokal, I. (2007) · Pediatric Transplantation · doi:10.1111/j.1399-3046.2007.00721.x · Cited by 119
Telomere length measurements in leukocyte subsets by automated multicolor flow‐FISH
Baerlocher, G. M., & Lansdorp, P. M. (2003) · Cytometry Part A · doi:10.1002/cyto.a.10064 · Cited by 112
Dyskeratosis Congenita
Drachtman, R. A., & Alter, B. P. (1992) · Journal of Pediatric Hematology/Oncology · doi:10.1097/00043426-199211000-00004 · Cited by 100
Self-citation
A unique case of reticular pigmentation of the skin with atrophy
Engman (1926) · Archives of Dermatology · Cited by 100
New developments in telomere length analysis
Baird, D. M. (2005) · Experimental Gerontology · doi:10.1016/j.exger.2005.02.008 · Cited by 99
The telomere length dynamic and methods of its assessment
Lin, K.-W., & Yan, J. (2005) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2005.tb00395.x · Cited by 88
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
Sznajer, Y., Baumann, C., David, A., Journel, H., Lacombe, D., Pérel, Y., Blouin, P., Segura, J., Cézard, J., Peuchmaur, M. M., et al. (2003) · European Journal of Pediatrics · doi:10.1007/s00431-003-1317-5 · Cited by 85
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation
Yabe, M., Yabe, H., HATTORI, K., Morimoto, T., HINOHARA, T., Takakura, I., Shimizu, T., Shimamura, K., Tang, X., & Kato, S. (1997) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1700674 · Cited by 85
Dyskeratosis Congenita: A historical perspective
Walne, A. J., & Dokal, I. S. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2007.10.006 · Cited by 81
The role of telomere biology in bone marrow failure and other disorders
Savage, S. A., & Alter, B. P. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2007.11.002 · Cited by 75
Self-citation
Dyskeratosis congenita: The first NIH clinical research workshop
Savage, S. A., Dokal, I. S., Armanios, M. Y., Aubert, G., Cowen, E. W., Domingo, D. L., Giri, N., Greene, M. H., Orchard, P. J., Tolar, J., et al. (2009) · Pediatric Blood & Cancer · doi:10.1002/pbc.22061 · Cited by 69
Self-citation
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
Marrone, A., Sokhal, P., Walne, A. J., Beswick, R. W., Kirwan, M., Killick, S. B., Williams, M., Marsh, J. C. W., Vulliamy, T., & Dokal, I. S. (2007) · Haematologica · doi:10.3324/haematol.11407 · Cited by 69
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 Berg, H., Barth, P. G., & Hennekam, R. C. M. (1995) · European Journal of Pediatrics · doi:10.1007/bf01957367 · Cited by 66
Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
Kajtár, P., & Méhes, K. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320490404 · Cited by 63
Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita
Dror, Y., Freedman, M. H., Leaker, M., Verbeek, J., Armstrong, C. A., Saunders, F., & Doyle, J. (2003) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1703931 · Cited by 63
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony‐stimulating factor
Giri, N., Pitel, P. A., Green, D., & Alter, B. P. (2007) · British Journal of Haematology · doi:10.1111/j.1365-2141.2007.06718.x · Cited by 45
Self-citation
Dyskeratosis Congenita
Milgrom, H. (1964) · Archives of Dermatology · doi:10.1001/archderm.1964.01590270031007 · Cited by 42
Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen
Brazzola, P., Duval, M., Fournet, J., Gauvin, F., Dalle, J., Champagne, J., & Champagne, M. A. (2005) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1705171 · Cited by 39
Telomere Length Measurements Using Fluorescence In Situ Hybridization and Flow Cytometry
Baerlocher, G. M., & Lansdorp, P. M. (2004) · Methods in cell biology · doi:10.1016/s0091-679x(04)75031-1 · Cited by 38
Case Reports LATE VASCULAR COMPLICATIONS AFTER BONE MARROW TRANSPLANTATION FOR DYSKERATOSIS CONGENITA
Berthou, C., Devergié, A., D'Agay, M. F., Sonsino, E., Scrobohaci, M. L., Loirat, C., & Gluckman, É. (1991) · British Journal of Haematology · doi:10.1111/j.1365-2141.1991.tb04543.x · Cited by 38
Dyskeratosis Congenita with Pigmentation, Dystrophia Unguium, and Leucokeratosis Oris
COLE, H. N. (1955) · A M A Archives of Dermatology · doi:10.1001/archderm.1955.01540280027005 · Cited by 33
Intensive Immunosuppression Therapy for Aplastic Anemia Associated with Dyskeratosis Congenita
Al‐Rahawan, M. M., Giri, N., & Alter, B. P. (2006) · International Journal of Hematology · doi:10.1532/ijh97.06030 · Cited by 32
Self-citation
Ataxia and pancytopenia caused by a mutation in TINF2
Tsangaris, E., Adams, S., Yoon, G., Chitayat, D. A., Lansdorp, P. M., Dokal, I. S., & Dror, Y. (2008) · Human Genetics · doi:10.1007/s00439-008-0576-7 · Cited by 32
Treatment of dyskeratosis congenita with Granulocyte Colony‐Stimulating Factor and Erythropoietin
Alter, B. P., Gardner, F. H., & Hall, R. E. (1997) · British Journal of Haematology · doi:10.1046/j.1365-2141.1997.622717.x · Cited by 31
Self-citation
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
Savage, S. A., Stewart, B., Weksler, B. B., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., & Alter, B. P. (2006) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2006.07.001 · Cited by 29
Self-citation
Fludarabine, Cyclophosphamide, and Antithymocyte Globulin for a Patient with Dyskeratosis Congenita and Severe Bone Marrow Failure
Ostronoff, F., Ostronoff, M., Calixto, R., Florêncio, R., Domingues, M. C., Maior, A. P. S., Sucupira, A., & Tagliari, C. (2007) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2006.11.015 · Cited by 21
PROLIFERATIVE RETINOPATHY AS A COMPLICATION OF DYSKERATOSIS CONGENITA
Mason, J. O., Yunker, J. J., Nixon, P. A., Vail, R. S., Tsilou, E., Giri, N., & Alter, B. P. (2009) · Retinal Cases & Brief Reports · doi:10.1097/01.icb.0000315662.87050.bf · Cited by 17
Self-citation
A case of dyskeratosis congenita associated with schizophrenia and two malignancies
Mahiques, L., Febrer, I., Vilata, J., & Fortea, J. M. (2006) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/j.1468-3083.2006.01660.x · Cited by 14
All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative
Denny, C. C., Wilfond, B. S., Peters, J. A., Giri, N., & Alter, B. P. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32362 · Cited by 9
Self-citation
Dyskeratosis Congenita: Low Regimen-Related Toxicity Following Hematopoietic Cell Transplantation (HCT) Using a Reduced Intensity Conditioning Regimen.
Tolar, J., Orchard, P. J., Miller, J. S., MacMillan, M. L., Wagner, J. E., Alter, B. P., & Baker, K. S. (2007) · Blood · doi:10.1182/blood.v110.11.2005.2005 · Cited by 4
Self-citation
Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report
Rosenberg, P. S., Giri, N., Savage, S. A., & Alter, B. P. (2008) · Blood · doi:10.1182/blood.v112.11.40.40 · Cited by 3
Self-citation

Flagged first, then by citations

Research works printed but not linked: 1

Zinsser, 1910, Atrophia Cutis Reticularis cum Pigmentations, Dystrophia Unguium et Leukoplakis oris (Poikioodermia atrophicans vascularis Jacobi), Ikonographia Dermatologica, 5, 219

Sorted by citations

The telomere syndromes
Armanios, M., & Blackburn, E. H. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3246 · Cited by 982
Telomeres and telomerase in cancer
Artandi, S. E., & DePinho, R. A. (2010) · Carcinogenesis · doi:10.1093/carcin/bgp268 · Cited by 823
Ribosomopathies: human disorders of ribosome dysfunction
Narla, A., & Ebert, B. L. (2010) · Blood · doi:10.1182/blood-2009-10-178129 · Cited by 841
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33
Petersen, G. M., Amundadottir, L. T., Fuchs, C. S., Kraft, P. L., Stolzenberg‐Solomon, R. Z., Jacobs, K. B., Arslan, A. A., Bueno-de-Mesquita, H. B., Gallinger, S., Gross, M. D., et al. (2010) · Nature Genetics · doi:10.1038/ng.522 · Cited by 598
Pathophysiology and management of inherited bone marrow failure syndromes
Shimamura, A., & Alter, B. P. (2010) · Blood Reviews · doi:10.1016/j.blre.2010.03.002 · Cited by 570
Self-citation

See all 262

Authors: Savage, S. A., & Alter, B. P.
Affiliations: National Institutes of Health (US)
Corresponding author: Savage, Sharon A.
ORCID: Savage, Sharon A.
Alter, Blanche P.
Venue: Hematology/Oncology Clinics of North America
Publisher: Elsevier BV
Published: 2009-04
Volume: 23
Issue: 2
Pages: 215-231
ISSN: 0889-8588 (ISSN-L)
DOI: 10.1016/j.hoc.2009.01.003
PMC: PMC2702847
OpenAlex: W4237540272
Cited by: 262
References: 67
Citations by year: 2026: 10 · 2025: 18 · 2024: 16 · 2023: 14 · 2022: 19 · 2021: 23 · 2020: 17 · 2019: 8 · 2018: 16 · 2017: 10 · 2016: 14 · 2015: 15 · 2014: 8 · 2013: 19 · 2012: 19
FWCI: 10.72
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Hematology/Oncology Clinics of North America (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Cancer Institute (Z01CP010144)
Topics: Health Sciences › Medicine › Hematology › Blood disorders and treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Keywords: dyskeratosis congenita, bone marrow failure, telomere dysfunction, telomere maintenance genes, nail dystrophy, oral leukoplakia, aplastic anemia, myelodysplastic syndrome, leukemia, solid tumors, hematopoietic stem cell transplantation, immunosuppressive therapy
MeSH terms: Bone Marrow Diseases, Humans, Immunosuppression Therapy, Telomere, Hematopoietic Stem Cell Transplantation, Dyskeratosis Congenita

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Dyskeratosis Congenita

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks