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Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome.
- Published in:
- British Journal of Haematology, 1999, v. 107, n. 1, p. 49, doi. 10.1046/j.1365-2141.1999.01668.x
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- Publication type:
- Article
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
- Published in:
- American Journal of Hematology, 2016, v. 91, n. 12, p. 1215, doi. 10.1002/ajh.24545
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- Publication type:
- Article
Immune status of patients with inherited bone marrow failure syndromes.
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- American Journal of Hematology, 2015, v. 90, n. 8, p. 702, doi. 10.1002/ajh.24046
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- Publication type:
- Article
Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia.
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- Science Translational Medicine, 2020, v. 12, n. 566, p. 1, doi. 10.1126/scitranslmed.abb5831
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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
The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada.
- Published in:
- Health Expectations, 2015, v. 18, n. 5, p. 929, doi. 10.1111/hex.12066
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- Publication type:
- Article
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
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- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0607-5
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- Publication type:
- Article
A New Syndrome of Familial Aplastic Anemia and Chronic Liver Disease.
- Published in:
- Acta Haematologica, 1997, v. 97, n. 3, p. 164, doi. 10.1159/000203674
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- Publication type:
- Article
Experiences of siblings of patients with Fanconi anemia.
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- Pediatric Blood & Cancer, 2007, v. 48, n. 1, p. 72, doi. 10.1002/pbc.20913
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- Publication type:
- Article
Growth hormone and the risk of malignancy.
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- Pediatric Blood & Cancer, 2004, v. 43, n. 5, p. 534, doi. 10.1002/pbc.20110
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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
Androgens and liver tumors: Fanconi's anemia and non‐Fanconi's conditionsThis article is a U.S. Government work and, as such, is in the public domain in the United States of America.
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- American Journal of Hematology, 2004, v. 77, n. 3, p. 257, doi. 10.1002/ajh.20183
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- Publication type:
- Article
Dyskeratosis congenita: Nails and hands.
- Published in:
- American Journal of Hematology, 1998, v. 58, n. 4, p. 298, doi. 10.1002/(SICI)1096-8652(199808)58:4<298::AID-AJH8>3.0.CO;2-L
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- Publication type:
- Article
Modulation of macrocytosis in aplastic anemia.
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- American Journal of Hematology, 1998, v. 57, n. 1, p. 92, doi. 10.1002/(SICI)1096-8652(199801)57:1<92::AID-AJH22>3.0.CO;2-A
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- Publication type:
- Article
Fanconi's anemia and malignancies.
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- American Journal of Hematology, 1996, v. 53, n. 2, p. 99, doi. 10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z
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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
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
Anti-Müllerian hormone deficiency in females with Fanconi anemia.
- Published in:
- 2014
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- Publication type:
- journal article
Endocrine Abnormalities in Patients with Fanconi Anemia.
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- 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
The relationship between DNA methylation and telomere length in dyskeratosis congenita.
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- 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
Cancer Survivorship—Genetic Susceptibility and Second Primary Cancers: Research Strategies and Recommendations.
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- JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 1, p. 15, doi. 10.1093/jnci/djj001
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- Publication type:
- Article
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693
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- Publication type:
- Article
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 475, doi. 10.1002/mgg3.220
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- Publication type:
- Article
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.
- Published in:
- Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/865170
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- Publication type:
- Article
Prenatal Diagnosis of Hematologic Diseases, 1986 Update.
- Published in:
- Acta Haematologica, 1987, v. 78, n. 2/3, p. 137, doi. 10.1159/000205863
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- Publication type:
- Article
Cancer in Fanconi anemia, 1927-2001.
- Published in:
- Cancer (0008543X), 2003, v. 97, n. 2, p. 425, doi. 10.1002/cncr.11046
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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
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
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
Gynaecological and reproductive health of women with telomere biology disorders.
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- British Journal of Haematology, 2021, v. 193, n. 6, p. 1238, doi. 10.1111/bjh.17545
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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
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
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.
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- British Journal of Haematology, 2013, v. 163, n. 1, p. 81, doi. 10.1111/bjh.12475
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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
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
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.
- Published in:
- British Journal of Haematology, 2010, v. 150, n. 2, p. 196, doi. 10.1111/j.1365-2141.2010.08216.x
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- Publication type:
- Article
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
Antenatal Diagnosis Summary of Results<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 237, doi. 10.1111/j.1749-6632.1990.tb24311.x
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- Publication type:
- Article
Antenatal Diagnosis of Thalassemia: A Review<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 445, n. 1, p. 393, doi. 10.1111/j.1749-6632.1985.tb17209.x
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES: THE NEW ENGLAND APPROACH*.
- Published in:
- Annals of the New York Academy of Sciences, 1980, v. 344, n. 1, p. 151, doi. 10.1111/j.1749-6632.1980.tb33658.x
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- Publication type:
- Article
F-CELL REGULATION.
- Published in:
- Annals of the New York Academy of Sciences, 1980, v. 344, n. 1, p. 219, doi. 10.1111/j.1749-6632.1980.tb33663.x
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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
Fanconi's Anemia, transplantation, and cancer.
- Published in:
- Pediatric Transplantation, 2005, v. 9, p. 81, doi. 10.1111/j.1399-3046.2005.00440.x
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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
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098686
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- Publication type:
- Article
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita.
- Published in:
- 2006
- By:
- Publication type:
- commentary
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Heritable cancer: Rounding up the not so usual suspects.
- Published in:
- 2017
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- Publication type:
- journal article
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
- Published in:
- 2016
- By:
- Publication type:
- journal article