Publications by authors named "Anna Marrone"

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Long-Lasting Efficacy of Radio Electric Asymmetric Conveyer Neuromodulation Treatment on Functional Dysmetria, an Adaptive Motor Behavior.
Vania Fontani, Arianna Rinaldi, Chiara Rinaldi, Laura Araldi, Alida Azzarà, Anna Marrone

Cureus· June 2022

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Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Michael Kirwan, Tom Vulliamy, Anna Marrone, Amanda J Walne, Richard Beswick

Hum Mutat· November 2009

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed

Proc Natl Acad Sci U S A· June 2008

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Progress and prospects in rat genetics: a community view.
Timothy J Aitman, John K Critser, Edwin Cuppen, Anna Dominiczak, Xose M Fernandez-Suarez, Anna Marrone

Nat Genet· May 2008

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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan

Blood· December 2007

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Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan

Haematologica· August 2007

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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Amanda J Walne, Tom Vulliamy, Anna Marrone, Richard Beswick, Michael Kirwan

Hum Mol Genet· July 2007

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Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Tom J Vulliamy, Anna Marrone, Stuart W Knight, Amanda Walne, Philip J Mason

Blood· April 2006

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Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Tom J Vulliamy, Amanda Walne, Aroon Baskaradas, Philip J Mason, Anna Marrone

Blood Cells Mol Dis· October 2005

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Dyskeratosis congenita: a disorder of defective telomere maintenance?
Amanda J Walne, Anna Marrone, Inderjeet Dokal

Int J Hematol· October 2005

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Dyskeratosis congenita: telomerase, telomeres and anticipation.
Anna Marrone, Amanda Walne, Inderjeet Dokal

Curr Opin Genet Dev· June 2005

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Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.
Anna Marrone, David Stevens, Tom Vulliamy, Inderjeet Dokal, Philip J Mason

Blood· December 2004

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Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Anna Marrone, Inderjeet Dokal

Expert Rev Mol Med· December 2004

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A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria.
W Nicol Keith, Tom Vulliamy, Jiangqin Zhao, Cem Ar, Can Erzik, Anna Marrone

BMC Blood Disord· June 2004

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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason

Nat Genet· May 2004

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A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
Fausto Cossu, Tom J Vulliamy, Anna Marrone, Manuela Badiali, Antonio Cao

Br J Haematol· December 2002

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Association between aplastic anaemia and mutations in telomerase RNA.
Tom Vulliamy, Anna Marrone, Inderjeet Dokal, Philip J Mason

Lancet· June 2002

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