274 results on '"Vulliamy, Tom"'
Search Results
2. New WHO classification of genetic variants causing G6PD deficiency
3. The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
4. Inherited bone marrow failure in the pediatric patient
5. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
6. Acquired somatic variants in inherited myeloid malignancies
7. Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
8. A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
9. High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
10. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
11. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
12. Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
13. GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
14. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
15. Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study
16. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
17. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
18. Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial
19. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
20. Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
21. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
22. Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita
23. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
24. Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
25. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
26. Molecular Characterization of G6PD Deficiency in Oman
27. Inherited aplastic anaemias/bone marrow failure syndromes
28. Leucocyte telomere length in patients with sickle cell disease
29. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
30. Haematological recovery in dyskeratosis congenita patients treated with danazol
31. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
32. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
33. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
34. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
35. Dyskeratosis Congenita
36. Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation
37. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
38. Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
39. Dyskeratosis congenita and the DNA damage response
40. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
41. Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
42. Genomic instability in Hoyeraal–Hreidarsson syndrome
43. Defining the Pathogenic Role of Telomerase Mutations in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Research Article
44. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
45. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
46. Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
47. Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split
48. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
49. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
50. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
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