Zobrazeno 1 - 10 of 17 pro vyhledávání: '"A. T. J. M. Helderman-van den Enden"'
1
An emerging role for DPP6: reciprocal regulation of INa-Ito and implications for arrhythmogenesis
Autor: A Rossetti, R L H Spatjens, S Kammerer, J Stoks, R Firneburg, S R Seyen, A T J M Helderman-Van Den Enden, A A M Wilde, B L Loeys, J Saenen, J Heijman, P G A Volders
Publikováno v: European Heart Journal. 43
Background Since the association of a chromosomal risk haplotype harboring dipeptidyl peptidase-like protein-6 (DPP6) to familial idiopathic ventricular fibrillation (iVF), a growing number of DPP6 missense variants has been reported in patients with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::be54b254242f67cc3ceb190dd5233756
https://doi.org/10.1093/eurheartj/ehac544.2886
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2
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Autor: Arthur van den Wijngaard, Carlo Marcelis, Ingrid P.C. Krapels, Yvonne M. Hoedemaekers, Apollonia T. J. M. Helderman-van den Enden, Debby M.E.I. Hellebrekers, Job A J Verdonschot, Esther Brusse, Godelieve R.F. Claes, Hanne M Boen, Imke Christiaans, Janneke G. J. Hoeijmakers, Marlies Kempers, Pieter Koopman, Bart Loeys, Han G. Brunner, Stephane Heymans, Els K. Vanhoutte, Amber de Haan, Jaap I. van Waning, Ronald H. Lekanne Deprez, Annette F. Baas, Dennis Dooijes, Emeline M. Van Craenenbroeck, Daniela Q.C.M. Barge-Schaapveld, Folkert W. Asselbergs
Publikováno v: Human mutation
Human Mutation, 41(6), 1091-1111. Wiley
Human Mutation
Human mutation, 41(6), 1091-1111. Wiley-Liss Inc.
Human Mutation, 41, 6, pp. 1091-1111
Human Mutation: Variation, Informatics and Disease, 41(6), 1091-1111. WILEY
Human Mutation, 41, 1091-1111
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28396717dc8ea773ff9ba4327b2e6ff1
http://hdl.handle.net/1942/34568
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3
Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death
Autor: Aaron Isaacs, Arthur van den Wijngaard, Alfons S.M. Patelski, Jan D. H. Jongbloed, Monika Stoll, Marije B. Hoos, Jan C.A. Hoorntje, Paul G.A. Volders, Apollonia T. J. M. Helderman-van den Enden, Andrei Barysenka, Rachel M.A. ter Bekke
Publikováno v: Heart Rhythm, 14(12), 1873-1881. Elsevier Science
Heart Rhythm, 14(12), 1873-1881. ELSEVIER SCIENCE INC
BACKGROUND: Heritable cardiac-sodium channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, sugges
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba7c15651e3cf6f953bd56d7f6dca51
https://hdl.handle.net/11370/275aa934-5e9f-40b3-8a0a-7b4289ca3a97
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4
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy
Autor: Gajja S. Salomons, Arthur van den Wijngaard, Jan F. C. Glatz, Ingrid P.C. Krapels, Jörgen Bierau, Appolonia T J M Helderman-van den Enden, Mark R. Hazebroek, Liesbeth van der Ploeg, Sacha Ferdinandusse, Stephane Heymans, Moniek Riemersma, Han G. Brunner, Martijn C. G. J. Brouwers
Publikováno v: European journal of human genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25, 11, pp. 1195-1201
Riemersma, M, Hazebroek, M R, Helderman-Van Den Enden, A T J M, Salomons, G S, Ferdinandusse, S, Brouwers, M C G J, Van Der Ploeg, L, Heymans, S, Glatz, J F C, Van Den Wijngaard, A, Krapels, I P C, Bierau, J & Brunner, H G 2017, ' Propionic acidemia as a cause of adult-onset dilated cardiomyopathy ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1195-1201 . https://doi.org/10.1038/ejhg.2017.127
European Journal of Human Genetics, 25, 1195-1201
Contains fulltext : 182645.pdf (Publisher’s version ) (Open Access) Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d54db90e4fe24bd64d8b28227f928d
https://doi.org/10.1038/ejhg.2017.127
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5
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Autor: Elizabeth C, Page, Elizabeth K, Bancroft, Mark N, Brook, Melissa, Assel, Mona, Hassan Al Battat, Sarah, Thomas, Natalie, Taylor, Anthony, Chamberlain, Jennifer, Pope, Holly Ni, Raghallaigh, D Gareth, Evans, Jeanette, Rothwell, Lovise, Maehle, Eli Marie, Grindedal, Paul, James, Lyon, Mascarenhas, Joanne, McKinley, Lucy, Side, Tessy, Thomas, Christi, van Asperen, Hans, Vasen, Lambertus A, Kiemeney, Janneke, Ringelberg, Thomas Dyrsø, Jensen, Palle J S, Osther, Brian T, Helfand, Elena, Genova, Rogier A, Oldenburg, Cezary, Cybulski, Dominika, Wokolorczyk, Kai-Ren, Ong, Camilla, Huber, Jimmy, Lam, Louise, Taylor, Monica, Salinas, Lidia, Feliubadaló, Jan C, Oosterwijk, Wendy, van Zelst-Stams, Jackie, Cook, Derek J, Rosario, Susan, Domchek, Jacquelyn, Powers, Saundra, Buys, Karen, O'Toole, Margreet G E M, Ausems, Rita K, Schmutzler, Kerstin, Rhiem, Louise, Izatt, Vishakha, Tripathi, Manuel R, Teixeira, Marta, Cardoso, William D, Foulkes, Armen, Aprikian, Heleen, van Randeraad, Rosemarie, Davidson, Mark, Longmuir, Mariëlle W G, Ruijs, Apollonia T J M, Helderman van den Enden, Muriel, Adank, Rachel, Williams, Lesley, Andrews, Declan G, Murphy, Dorothy, Halliday, Lisa, Walker, Annelie, Liljegren, Stefan, Carlsson, Ashraf, Azzabi, Irene, Jobson, Catherine, Morton, Kylie, Shackleton, Katie, Snape, Helen, Hanson, Marion, Harris, Marc, Tischkowitz, Amy, Taylor, Judy, Kirk, Rachel, Susman, Rakefet, Chen-Shtoyerman, Allan, Spigelman, Nicholas, Pachter, Munaza, Ahmed, Teresa, Ramon Y Cajal, Janez, Zgajnar, Carole, Brewer, Neus, Gadea, Angela F, Brady, Theo, van Os, David, Gallagher, Oskar, Johannsson, Alan, Donaldson, Julian, Barwell, Nicola, Nicolai, Eitan, Friedman, Elias, Obeid, Lynn, Greenhalgh, Vedang, Murthy, Lucia, Copakova, Sibel, Saya, John, McGrath, Peter, Cooke, Karina, Rønlund, Kate, Richardson, Alex, Henderson, Soo H, Teo, Banu, Arun, Karin, Kast, Alexander, Dias, Neil K, Aaronson, Audrey, Ardern-Jones, Chris H, Bangma, Elena, Castro, David, Dearnaley, Diana M, Eccles, Karen, Tricker, Jorunn, Eyfjord, Alison, Falconer, Christopher, Foster, Henrik, Gronberg, Freddie C, Hamdy, Vigdis, Stefansdottir, Vincent, Khoo, Geoffrey J, Lindeman, Jan, Lubinski, Karol, Axcrona, Christos, Mikropoulos, Anita, Mitra, Clare, Moynihan, Gadi, Rennert, Mohnish, Suri, Penny, Wilson, Tim, Dudderidge, Judith, Offman, Zsofia, Kote-Jarai, Andrew, Vickers, Hans, Lilja, Rosalind A, Eeles
Publisher's version (útgefin grein).
Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::041561ac7768dda1598f1ea52243e35e
https://hdl.handle.net/20.500.11815/1523
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6
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Autor: Ingrid P.C. Krapels, Maarten P. van den Berg, Wilfred F. Heesen, Andreas Perrot, Imke Christiaans, Han G. Brunner, Simone H.H. Kuijpers, Marije B. Hoos, Paul G.A. Volders, Godelieve R.F. Claes, Patrick J. Lindsey, Simone Salemink, Yvette E.G. Barrois, Arthur van den Wijngaard, Hubert J.M. Smeets, J. Peter van Tintelen, Aimee D C Paulussen, Pablo García-Pavía, Apollonia T. J. M. Helderman-van den Enden, Johanna W.H. Janssen, Florence H J van Tienen, Carlo Marcelis, Jan-Willem E M Sels
Publikováno v: European Heart Journal, 37(23), 1815-1822. Oxford University Press
European Heart Journal, 37, 23, pp. 1815-22
European heart journal, 37(23), 1815-1822. Oxford University Press
European Heart Journal, 37, 1815-22
Contains fulltext : 167854.pdf (Publisher’s version ) (Open Access) AIMS: Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8e588625973fac02ccf296e6f7de7b
https://doi.org/10.1093/eurheartj/ehv522
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7
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
Autor: Ronald H. Lekanne Deprez, Jan D. H. Jongbloed, Job H. Veldman, Paul A. van der Zwaag, Marja W. Wessels, Jan H. von der Thüsen, Ingrid M.B.H. van de Laar, Dennis Dooijes, Marjon van Slegtenhorst, Jasper J. van der Smagt, Arthur van den Wijngaard, Erwin Brosens, Michelle Michels, Anneke M. van Mil, Robert M.W. Hofstra, Rogier A. Oldenburg, Imke Christiaans, Apollonia T. J. M. Helderman-van den Enden, Judith M.A. Verhagen
Publikováno v: European Journal of Human Genetics, 26(11), 1603-1610. Nature Publishing Group
European Journal of Human Genetics
European journal of human genetics, 26(11), 1603-1610. Nature Publishing Group
The pathogenicity of previously published disease-associated genes and variants is sometimes questionable. Large-scale, population-based sequencing studies have uncovered numerous false assignments of pathogenicity. Misinterpretation of sequence vari
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a8f50b2b86d39a5fdf5e5639608283a
https://research.rug.nl/en/publications/0bc67d62-ded1-4250-9178-6aac9910ca88
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9
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Autor: Christine E. M. de Die-Smulders, Annemieke H. van der Hout, Egbert Bakker, H.B. Ginjaar, Martijn H. Breuning, Apollonia T. J. M. Helderman-van den Enden, Kamlesh Madan
Publikováno v: European Journal of Human Genetics, 21(1), 21-26. Nature Publishing Group
European Journal of Human Genetics, 21(1), 21-6
European Journal of Human Genetics
Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67589dc8876c283bb2db7aae5aedd465
https://doi.org/10.1038/ejhg.2012.101
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10
A near false-negative finding of mosaic trisomy 21—a cautionary tale
Autor: J. V. Roosmalen, Geoffrey C. Beverstock, H. H. H. Kanhai, Kerstin Hansson, Apollonia T. J. M. Helderman-van den Enden, Annette Bröcker-Vriends, Willemijn Dobbe-Van Meerendonk, Frans J.C.M. Klumper, P. H. Kolkman, Margot M. Bartelings
Publikováno v: Prenatal Diagnosis. 18:742-746
We report the finding of a mosaic trisomy 21 restricted to the long-term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3053c46315ad646ca0059426b9a956f4
https://doi.org/10.1002/(sici)1097-0223(199807)18:7<742::aid-pd337>3.0.co
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