Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
Weitering, T. J., Willemsen, M. A. A. P., Taylor, A. M. R., Weemaes, C. M. R., van der Burg, M., Berghuis, Dagmar
Published in Journal of clinical immunology (01.11.2023)
Published in Journal of clinical immunology (01.11.2023)
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Journal Article
Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
Staples, E.R, McDermott, E.M, Reiman, A, Byrd, P.J, Ritchie, S, Taylor, A.M.R, Davies, E.G
Published in Clinical and experimental immunology (01.08.2008)
Published in Clinical and experimental immunology (01.08.2008)
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Journal Article
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
van Os, N.J.H., Roeleveld, N., Weemaes, C.M.R., Jongmans, M.C.J., Janssens, G.O., Taylor, A.M.R., Hoogerbrugge, N., Willemsen, M.A.A.P.
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Journal Article
Caudal regression syndrome in a fetus of a glucokinase‐maturity‐onset diabetes of the young pregnancy
Taylor, R. A. M., Mackie, A., Mogra, R., Pinner, J., Rajendran, S., Ross, G. P.
Published in Diabetic medicine (01.02.2019)
Published in Diabetic medicine (01.02.2019)
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Journal Article
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
Hiel, J A P, van Engelen, B G M, Weemaes, C M R, Broeks, A, Verrips, A, ter Laak, H, Vingerhoets, H M, van den Heuvel, L P W, Lammens, M, Gabreëls, F J M, Last, J I, Taylor, A M R
Published in Neurology (25.07.2006)
Published in Neurology (25.07.2006)
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Down-regulation of ATM protein in HRS cells of nodular sclerosis Hodgkin's lymphoma in children occurs in the absence of ATM gene inactivation
Bose, S, Starczynski, J, Chukwuma, M, Baumforth, K, Wei, W, Morgan, S, Byrd, P, Ying, J, Grundy, R, Mann, JR, Tao, Q, Taylor, AMR, Murray, PG, Stankovic, T
Published in The Journal of pathology (01.11.2007)
Published in The Journal of pathology (01.11.2007)
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Journal Article
Clinical spectrum of ataxia-telangiectasia in adulthood
Verhagen, M M M, Abdo, W F, Willemsen, M A A P, Hogervorst, F B L, Smeets, D F C M, Hiel, J A P, Brunt, E R, van Rijn, M A, Majoor Krakauer, D, Oldenburg, R A, Broeks, A, Last, J I, van't Veer, L J, Tijssen, M A J, Dubois, A M I, Kremer, H P H, Weemaes, C M R, Taylor, A M R, van Deuren, M
Published in Neurology (11.08.2009)
Published in Neurology (11.08.2009)
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Journal Article
Mutations Revealed by Sequencing the 5′ Half of the Gene for Ataxia Telangiectasia
Byrd, P. J., McConville, C. M., Cooper, P., Parkhill, J., Stankovic, T., McGuire, G. M., Thick, J. A., Taylor, A. M. R.
Published in Human molecular genetics (01.01.1996)
Published in Human molecular genetics (01.01.1996)
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Journal Article
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
Schoenaker, M.H.D., Van Os, N.J.H., Van der Flier, M., Van Deuren, M., Seyger, M.M., Taylor, A.M.R., Weemaes, C.M.R., Willemsen, M.A.A.P.
Published in European journal of medical genetics (01.05.2018)
Published in European journal of medical genetics (01.05.2018)
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Journal Article
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study
Verhagen, Mijke M. M., Last, James I., Hogervorst, Frans B. L., Smeets, Dominique F. C. M., Roeleveld, Nel, Verheijen, Frans, Catsman-Berrevoets, Coriene E., Wulffraat, Nico M., Cobben, Jan M., Hiel, Johan, Brunt, Ewout R., Peeters, Els A. J., Gómez Garcia, Encarna B., van der Knaap, Marjo S., Lincke, Carsten R., Laan, Laura A. E. M., Tijssen, Marina A. J., van Rijn, Monique A., Majoor-Krakauer, Danielle, Visser, Marjan, van 't Veer, Laura J., Kleijer, Wim J., van de Warrenburg, Bart P. C., Warris, Adilia, de Groot, Imelda J. M., de Groot, Ronald, Broeks, Annegien, Preijers, Frank, Kremer, Berry H. P. H., Weemaes, Corry M. R., Taylor, Malcolm A. M. R., van Deuren, Marcel, Willemsen, Michèl A. A. P.
Published in Human mutation (01.03.2012)
Published in Human mutation (01.03.2012)
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Journal Article
Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia
INSKIP, H. M, KINLEN, L. J, TAYLOR, A. M. R, WOODS, C. G, ARLETT, C. F
Published in British journal of cancer (01.03.1999)
Published in British journal of cancer (01.03.1999)
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Journal Article
What has the cloning of the ATM gene told us about ataxia telangiectasia?
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Conference Proceeding
Ataxia-telangiectasia-like disorder (ATLD)—its clinical presentation and molecular basis
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Book Review
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