Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mijke M M, Verhagen"'
Autor:
Mijke M M, Verhagen, Jean-Jacques, Martin, Marcel, van Deuren, Chantal, Ceuterick-de Groote, Corry M R, Weemaes, Berry H P H, Kremer, Malcolm A R, Taylor, Michèl A A P, Willemsen, Martin, Lammens
Publikováno v:
Neuropathology : official journal of the Japanese Society of Neuropathology. 32(3)
Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated α-fetoprotein levels. Some patients, classified as variant A-T, exhibit a milder clinical course.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f355dcb2cb89660a07cec6a24267681
https://pubmed.ncbi.nlm.nih.gov/22017321
https://pubmed.ncbi.nlm.nih.gov/22017321
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abeba07fac21609ce343b6b0ed845f1e
https://pubmed.ncbi.nlm.nih.gov/22213089
https://pubmed.ncbi.nlm.nih.gov/22213089