Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Amanda Walne"'
Autor:
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.
Externí odkaz:
https://doaj.org/article/a25bb12eaf454851a551304c03cbab09
Autor:
Amanda Walne, Hemanth Tummala, Alicia Ellison, Shirleny Cardoso, Jasmin Sidhu, Gabriela Sciuccati, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 103, Iss 7 (2018)
Externí odkaz:
https://doaj.org/article/8fabf9e0aca5427184f5de1f3c12830c
Autor:
Tom J Vulliamy, Michael J Kirwan, Richard Beswick, Upal Hossain, Charlotte Baqai, Anna Ratcliffe, Judith Marsh, Amanda Walne, Inderjeet Dokal
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24383 (2011)
The bone marrow failure syndrome dyskeratosis congenita (DC) has been considered to be a disorder of telomere maintenance in which disease features arise due to accelerated shortening of telomeres. By screening core components of the telomerase and s
Externí odkaz:
https://doaj.org/article/e7a8b673d5de4d5b8f4daf453c2867d0
Autor:
Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 92, Iss 8 (2007)
Background and Objectives Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that te
Externí odkaz:
https://doaj.org/article/d3e5e18940114d99b61e1ebf24ac6cf1
Publikováno v:
Expert Review of Hematology. 15:685-696
Dyskeratosis congenita (DC) is a multisystem syndrome characterized by mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies over the last 25 years have led to the identification of 18 disease genes. These have a pri
Autor:
Hannah Armes, Ana Rio-Machin, Szilvia Krizsán, Csaba Bödör, Fadimana Kaya, Findlay Bewicke-Copley, Jenna Alnajar, Amanda Walne, Borbála Péterffy, Hemanth Tummala, Kevin Rouault-Pierre, Inderjeet Dokal, Tom Vulliamy, Jude Fitzgibbon
Publikováno v:
Leukemia
Autor:
Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M. Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
American journal of human genetics. 109(8)
Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic v
Autor:
Hemanth, Tummala, Arran D, Dokal, Amanda, Walne, Alicia, Ellison, Shirleny, Cardoso, Saranha, Amirthasigamanipillai, Michael, Kirwan, Isobel, Browne, Jasmin K, Sidhu, Vinothini, Rajeeve, Ana, Rio-Machin, Ahad Al, Seraihi, Andrew S, Duncombe, Matthew, Jenner, Owen P, Smith, Helen, Enright, Alice, Norton, Tekin, Aksu, Namık Yaşar, Özbek, Nikolas, Pontikos, Pedro, Cutillas, Inderjeet, Dokal, Tom, Vulliamy
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Bone marrow failure (BMF) is an inherited life-threatening condition characterized by defective hematopoiesis, developmental abnormalities, and predisposition to cancer. BMF caused by ERCC6L2 mutations is considered to be a genome instab