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Tom J Vulliamy Selected Research

Bone Marrow Failure Disorders

10/2019Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.
1/2011Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
4/2006Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
5/2005Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

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Tom J Vulliamy Research Topics

Disease

4Bone Marrow Failure Disorders
10/2019 - 05/2005
3Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
10/2019 - 05/2005
2Aplastic Anemia (Anemia, Hypoplastic)
01/2011 - 05/2005
1Neoplasms (Cancer)
01/2011
1Congenital Bone Marrow Failure Syndromes
05/2005
1Malaria
08/2003
1Hemolytic Anemia
05/2003
1Hemolysis
05/2003
1Hoyeraal Hreidarsson syndrome
12/2002
1Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
12/2002
1Glucosephosphate Dehydrogenase Deficiency
06/2002

Drug/Important Bio-Agent (IBA)

3Telomerase (Telomerase Reverse Transcriptase)IBA
01/2011 - 05/2005
2telomerase RNA (bTR)IBA
01/2011 - 05/2005
2RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA
01/2011 - 05/2005
2RNA (Ribonucleic Acid)IBA
01/2011 - 08/2003
1Small Nucleolar RNA (snoRNA)IBA
10/2019
1Ribosomal RNAIBA
10/2019
1AntioxidantsIBA
08/2003
1Glucose-6-Phosphate Isomerase (Phosphoglucose Isomerase)IBA
05/2003
1EnzymesIBA
05/2003
1Glucose (Dextrose)FDA LinkGeneric
06/2002
1Oxidoreductases (Dehydrogenase)IBA
06/2002

Therapy/Procedure

1Bone Marrow Transplantation (Transplantation, Bone Marrow)
12/2002