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Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
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- Human Genetics, 2001, v. 108, n. 4, p. 299, doi. 10.1007/s004390100494
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- Article
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
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- Oncogene, 2002, v. 21, n. 50, p. 7740, doi. 10.1038/sj.onc.1205969
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- Article
Molecular Characterization of G6PD Deficiency in Oman.
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- Human Heredity, 1996, v. 46, n. 3, p. 172, doi. 10.1159/000154348
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- Article
Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split.
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- Journal of Human Genetics, 2005, v. 50, n. 11, p. 547, doi. 10.1007/s10038-005-0292-2
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- Article
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome.
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- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4453, doi. 10.1093/hmg/ddq371
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- Article
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
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- Human Molecular Genetics, 2007, v. 16, n. 13, p. 1619, doi. 10.1093/hmg/ddm111
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- Article
Clinical utility gene card for: Dyskeratosis congenita - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.170
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- Article
New WHO classification of genetic variants causing G6PD deficiency.
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- Bulletin of the World Health Organization, 2024, v. 102, n. 8, p. 615, doi. 10.2471/BLT.23.291224
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- Article
Clinical utility gene card for: Dyskeratosis congenita.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.90
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- Article
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
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- Nature Genetics, 2004, v. 36, n. 5, p. 447, doi. 10.1038/ng1346
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- Article
Cell-surface antigen distinguishes sensory and autonomic peripheral neurones from central neurones.
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- Nature, 1981, v. 291, n. 5814, p. 418, doi. 10.1038/291418a0
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- Article
Non-lymphoid blast crisis of CML with rearrangement of immunoglobulin and T-cell receptor delta genes.
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- European Journal of Haematology, 1991, v. 47, n. 1, p. 36, doi. 10.1111/j.1600-0609.1991.tb00558.x
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- Article
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.
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- British Journal of Haematology, 2012, v. 159, n. 5, p. 498, doi. 10.1111/bjh.12088
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- Article
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
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- British Journal of Haematology, 2012, v. 158, n. 2, p. 242, doi. 10.1111/j.1365-2141.2012.09136.x
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- Article
Dyskeratosis congenita and the DNA damage response.
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- British Journal of Haematology, 2011, v. 153, n. 5, p. 634, doi. 10.1111/j.1365-2141.2011.08679.x
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- Article
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
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- British Journal of Haematology, 2009, v. 144, n. 5, p. 771, doi. 10.1111/j.1365-2141.2008.07516.x
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- Article
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita.
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- 2008
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- Letter
Expression of Plasmodium falciparum G6PD-6PGL in laboratory parasites and in patient isolates in G6PD-deficient and normal Nigerian children.
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- British Journal of Haematology, 2003, v. 122, n. 4, p. 662, doi. 10.1046/j.1365-2141.2003.04397.x
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- Article
A novel DKC1 mutation, severe combined immunodeficiency (T<sup>+</sup> B<sup>–</sup> NK<sup>–</sup> SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome.
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- British Journal of Haematology, 2002, v. 119, n. 3, p. 765, doi. 10.1046/j.1365-2141.2002.03822.x
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- Article
Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran.
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- British Journal of Haematology, 2002, v. 117, n. 3, p. 763, doi. 10.1046/j.1365-2141.2002.03483.x
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- Article
Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051292
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- Article
Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024383
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- Publication type:
- Article
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
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- British Journal of Haematology, 2022, v. 199, n. 5, p. 754, doi. 10.1111/bjh.18466
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- Article
Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline.
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- British Journal of Haematology, 2020, v. 189, n. 1, p. 24, doi. 10.1111/bjh.16366
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- Article
Leucocyte telomere length in patients with sickle cell disease.
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- British Journal of Haematology, 2014, v. 165, n. 5, p. 725, doi. 10.1111/bjh.12776
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- Article
Haematological recovery in dyskeratosis congenita patients treated with danazol.
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- British Journal of Haematology, 2013, v. 162, n. 6, p. 854, doi. 10.1111/bjh.12432
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- Article
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
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- Human Genetics, 2021, v. 140, n. 6, p. 945, doi. 10.1007/s00439-021-02257-4
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- Article
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
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- Nature, 2001, v. 413, n. 6854, p. 432, doi. 10.1038/35096585
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- Article
Genomic instability in Hoyeraal-Hreidarsson syndrome.
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- Pediatric Blood & Cancer, 2010, v. 54, n. 5, p. 779, doi. 10.1002/pbc.22446
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- Article
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria.
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- BMC Blood Disorders, 2004, v. 4, p. 1
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- Article
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.
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- 2012
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- Publication type:
- Report
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
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- Human Mutation, 2009, v. 30, n. 11, p. 1567, doi. 10.1002/humu.21115
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- Article
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.
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- Human Mutation, 1996, v. 8, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1996)8:4<311::AID-HUMU3>3.0.CO;2-A
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- Article
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.
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- Human Mutation, 1993, v. 2, n. 3, p. 159, doi. 10.1002/humu.1380020302
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- Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
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- Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
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- Article
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14829-5
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- Article
Dyskeratosis Congenita (DC) Registry: identification of new features of DC.
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- British Journal of Haematology, 1998, v. 103, n. 4, p. 990, doi. 10.1046/j.1365-2141.1998.01103.x
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- Article
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.
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- British Journal of Haematology, 1998, v. 101, n. 4, p. 670, doi. 10.1046/j.1365-2141.1998.00763.x
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- Article