Zobrazeno 1 - 5
of 5
pro vyhledávání: '"James I. Last"'
Autor:
Philip J Byrd, Grant S Stewart, Anna Smith, Charlotte Eaton, Alexander J Taylor, Chloe Guy, Ieva Eringyte, Peggy Fooks, James I Last, Robert Horsley, Antony W Oliver, Dragana Janic, Lidija Dokmanovic, Tatjana Stankovic, A Malcolm R Taylor
Publikováno v:
PLoS Genetics, Vol 12, Iss 3, p e1005945 (2016)
Patients with biallelic truncating mutations in PALB2 have a severe form of Fanconi anaemia (FA-N), with a predisposition for developing embryonal-type tumours in infancy. Here we describe two unusual patients from a single family, carrying biallelic
Externí odkaz:
https://doaj.org/article/4ca4cfd430634bbbb739e182954dea88
Autor:
Paul F. Worth, Venkataramanan Srinivasan, Anna Smith, James I. Last, Laura L. Wootton, Paul M. Biggs, Nicholas P. Davies, Ellen F. Carney, Philip J. Byrd, A. Malcolm R. Taylor
Publikováno v:
Movement Disorders. 28:524-528
Background The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM prot
Autor:
Tatjana Stankovic, Philip J Byrd, Grant S Stewart, Alexander J Taylor, Anna Smith, Peggy Fooks, Robert Horsley, James I Last, Dragana Janic, Lidija Dokmanovic, Antony W Oliver, A.Malcolm R Taylor
Publikováno v:
Blood. 128:5113-5113
PALB2 is DNA damage response protein that acts in Homologous recombination Repair (HRR) pathway and promotes recruitment of principal HRR components such as BRCA1, BRCA2 and Rad51. Biallelic PALB2 inactivation is associated with the severe form of Fa
Autor:
Ceri Oldreive, Tatjana Stankovic, Philip J Byrd, Grant S Stewart, Anna Smith, Alexander J Taylor, Peggy Fooks, Robert Horsley, James I Last, Dragana Janic, Lidija Dokmanovic, A. Malcolm R Taylor
Publikováno v:
Blood. 128:2726-2726
PALB2 protein is one of the principal components of Homologous Recombination Repair (HRR) that facilitates recruitment of other HRR proteins such as BRCA1, BRCA2 and Rad51. Biallelic PALB2 inactivation is associated with a severe form of Fanconi Anem
Autor:
Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren, Michèl A. A. P. Willemsen
Publikováno v:
Human mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clin