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Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
- Published in:
- Journal of Hematology & Oncology, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13045-024-01547-4
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- Publication type:
- Article
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
- Published in:
- British Journal of Haematology, 2023, v. 203, n. 5, p. 820, doi. 10.1111/bjh.18945
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- Publication type:
- Article
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.
- Published in:
- 2022
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- Publication type:
- Case Study
The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.
- Published in:
- Journal of Hand Surgery (17531934), 2022, v. 47, n. 7, p. 711, doi. 10.1177/17531934221087521
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- Publication type:
- Article
Fanconi anaemia: A syndrome with distinct subgroups.
- Published in:
- British Journal of Haematology, 2022, v. 197, n. 4, p. 467, doi. 10.1111/bjh.18091
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- Publication type:
- Article
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006015
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- Publication type:
- Article
Gynaecological and reproductive health of women with telomere biology disorders.
- Published in:
- British Journal of Haematology, 2021, v. 193, n. 6, p. 1238, doi. 10.1111/bjh.17545
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- Publication type:
- Article
Re‐equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
- Published in:
- EMBO Journal, 2020, v. 39, n. 21, p. 1, doi. 10.15252/embj.2019103420
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- Publication type:
- Article
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1918, doi. 10.1002/humu.24092
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- Publication type:
- Article
Serum alpha fetoprotein levels in Fanconi anaemia.
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
Constraining the Emission of Particulate Matter From Indonesian Peatland Burning Using Continuous Observation Data.
- Published in:
- Journal of Geophysical Research. Atmospheres, 2018, v. 123, n. 17, p. 9828, doi. 10.1029/2018JD028564
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- Publication type:
- Article
Cover Image, Volume 176A, Number 6, June 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. i, doi. 10.1002/ajmg.a.38848
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- Publication type:
- Article
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1432, doi. 10.1002/ajmg.a.38706
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- Publication type:
- Article
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
- Published in:
- 2018
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- Publication type:
- journal article
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1765, doi. 10.3390/ijms18081765
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- Publication type:
- Article
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
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- American Journal of Hematology, 2016, v. 91, n. 12, p. 1215, doi. 10.1002/ajh.24545
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- Publication type:
- Article
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
- Published in:
- 2016
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- Publication type:
- journal article
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 475, doi. 10.1002/mgg3.220
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- Publication type:
- Article
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1520, doi. 10.1002/ajmg.a.37637
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- Publication type:
- Article
Novel FANCI mutations in Fanconi anemia with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 386, doi. 10.1002/ajmg.a.37461
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- Publication type:
- Article
Pituitary abnormalities in patients with Fanconi anaemia.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 2, p. 307, doi. 10.1111/cen.12883
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- Publication type:
- Article
Immune status of patients with inherited bone marrow failure syndromes.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 8, p. 702, doi. 10.1002/ajh.24046
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- Publication type:
- Article
Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.
- Published in:
- 2015
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- Publication type:
- journal article
Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.
- Published in:
- 2015
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- Publication type:
- journal article
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 1, p. 103, doi. 10.1002/pbc.25251
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- Publication type:
- Article
Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes.
- Published in:
- Cytogenetic & Genome Research, 2014, v. 144, n. 1, p. 15, doi. 10.1159/000366251
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- Publication type:
- Article
Response to androgen therapy in patients with dyskeratosis congenita.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 3, p. 349, doi. 10.1111/bjh.12748
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- Publication type:
- Article
Anti-Müllerian hormone deficiency in females with Fanconi anemia.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.
- Published in:
- British Journal of Haematology, 2013, v. 163, n. 1, p. 81, doi. 10.1111/bjh.12475
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- Publication type:
- Article
Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus.
- Published in:
- International Journal of Cancer, 2013, v. 133, n. 6, p. 1513, doi. 10.1002/ijc.28157
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- Publication type:
- Article
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
- Published in:
- British Journal of Haematology, 2013, v. 162, n. 4, p. 542, doi. 10.1111/bjh.12399
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- Publication type:
- Article
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, <i>RTEL1</i>, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003695
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- Publication type:
- Article
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
- Published in:
- Human Genetics, 2013, v. 132, n. 4, p. 473, doi. 10.1007/s00439-013-1265-8
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- Publication type:
- Article
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
- Published in:
- British Journal of Haematology, 2013, v. 160, n. 4, p. 547, doi. 10.1111/bjh.12167
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- Publication type:
- Article
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 721, doi. 10.1093/hmg/ddr504
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- Publication type:
- Article
The relationship between DNA methylation and telomere length in dyskeratosis congenita.
- Published in:
- Aging Cell, 2012, v. 11, n. 1, p. 24, doi. 10.1111/j.1474-9726.2011.00755.x
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- Publication type:
- Article
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
- Published in:
- Nature, 2011, v. 474, n. 7351, p. 399, doi. 10.1038/nature10084
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- Publication type:
- Article
Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.
- Published in:
- 2011
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- Publication type:
- Case Study
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
- Published in:
- British Journal of Haematology, 2010, v. 150, n. 2, p. 179, doi. 10.1111/j.1365-2141.2010.08212.x
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- Publication type:
- Article
Dyskeratosis congenita: The first NIH clinical research workshop.
- Published in:
- Pediatric Blood & Cancer, 2009, v. 53, n. 3, p. 520, doi. 10.1002/pbc.22061
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- Publication type:
- Article
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Endocrine Abnormalities in Patients with Fanconi Anemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 7, p. 2624, doi. 10.1210/jc.2007-0135
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- Publication type:
- Article
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita.
- Published in:
- 2006
- By:
- Publication type:
- commentary
Comparative Efficacy and Distribution of Lipid Formulations of Amphotericin...
- Published in:
- Journal of Infectious Diseases, 2000, v. 182, n. 1, p. 274, doi. 10.1086/315643
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- Publication type:
- Article
A prospective, randomized double-blind trial comparing metoclopramide alone with metoclopramide plus dexamethasone in preventing emesis induced by high-dose cisplatin.
- Published in:
- 1988
- By:
- Publication type:
- journal article