Zobrazeno 1 - 10
of 146
pro vyhledávání: '"A. Helderman-van den Enden"'
Autor:
Isaacs, Aaron, Barysenka, Andrei, ter Bekke, Rachel M.A., Helderman-van den Enden, Apollonia T.J.M., van den Wijngaard, Arthur, Volders, Paul G.A., Stoll, Monika
Publikováno v:
In Heart Rhythm May 2023 20(5):720-727
Autor:
van de Laar, Ingrid M.B.H., Baas, Annette F., De Backer, Julie, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M., Houweling, Arjan C., Kempers, Marlies JE., Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael
Publikováno v:
In European Journal of Medical Genetics September 2022 65(9)
Autor:
Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D. Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J.S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oosterwijk, Jan C., van Zelst-Stams, Wendy, Cook, Jackie, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G.E.M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, Teixeira, Manuel R., Cardoso, Marta, Foulkes, William D., Aprikian, Armen, van Randeraad, Heleen, Davidson, Rosemarie, Longmuir, Mark, Ruijs, Mariëlle W.G., Helderman van den Enden, Apollonia T.J.M., Adank, Muriel, Williams, Rachel, Andrews, Lesley, Murphy, Declan G., Halliday, Dorothy, Walker, Lisa, Liljegren, Annelie, Carlsson, Stefan, Azzabi, Ashraf, Jobson, Irene, Morton, Catherine, Shackleton, Kylie, Snape, Katie, Hanson, Helen, Harris, Marion, Tischkowitz, Marc, Taylor, Amy, Kirk, Judy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Spigelman, Allan, Pachter, Nicholas, Ahmed, Munaza, Ramon y Cajal, Teresa, Zgajnar, Janez, Brewer, Carole, Gadea, Neus, Brady, Angela F., van Os, Theo, Gallagher, David, Johannsson, Oskar, Donaldson, Alan, Barwell, Julian, Nicolai, Nicola, Friedman, Eitan, Obeid, Elias, Greenhalgh, Lynn, Murthy, Vedang, Copakova, Lucia, Saya, Sibel, McGrath, John, Cooke, Peter, Rønlund, Karina, Richardson, Kate, Henderson, Alex, Teo, Soo H., Arun, Banu, Kast, Karin, Dias, Alexander, Aaronson, Neil K., Ardern-Jones, Audrey, Bangma, Chris H., Castro, Elena, Dearnaley, David, Eccles, Diana M., Tricker, Karen, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Stefansdottir, Vigdis, Khoo, Vincent, Lindeman, Geoffrey J., Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Rennert, Gadi, Suri, Mohnish, Wilson, Penny, Dudderidge, Tim, Offman, Judith, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Eeles, Rosalind A.
Publikováno v:
In European Urology December 2019 76(6):831-842
Autor:
Aaron Isaacs, Andrei Barysenka, Rachel M.A. ter Bekke, Apollonia T.J.M. Helderman-van den Enden, Arthur van den Wijngaard, Paul G.A. Volders, Monika Stoll
Publikováno v:
Heart Rhythm. 20(5):720-727
Background: The Worm Study, ascertained from a multigeneration pedigree segregating a single amino acid deletion in SCN5A (c.4850_4852delTCT, p.(Phe1617del), rs749697698), is characterized by substantial phenotypic heterogeneity and overlap of sudden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af02934c25ef590ae5955f7c701c5ad
https://doi.org/10.1016/j.hrthm.2023.02.004
https://doi.org/10.1016/j.hrthm.2023.02.004
Autor:
ter Bekke, Rachel M.A., Isaacs, Aaron, Barysenka, Andrei, Hoos, Marije B., Jongbloed, Jan D.H., Hoorntje, Jan C.A., Patelski, Alfons S.M., Helderman-van den Enden, Apollonia T.J.M., van den Wijngaard, Arthur, Stoll, Monika, Volders, Paul G.A.
Publikováno v:
In Heart Rhythm December 2017 14(12):1873-1881
Autor:
Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot
Publikováno v:
European Journal of Human Genetics.
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540c0d6d751132354f4c9fc0b02b8c9
https://doi.org/10.1038/s41431-023-01384-y
https://doi.org/10.1038/s41431-023-01384-y
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
https://doi.org/10.1093/eurheartj/ehac544.2886
Autor:
Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer, Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait, Leema Robert, George Tanteles, Michael Frank
Publikováno v:
van de Laar, I M B H, Baas, A F, de Backer, J, Blankenstein, J D, Dulfer, E, Helderman-van den Enden, A T J M, Houweling, A C, Kempers, M J E, Loeys, B, Malfait, F, Robert, L, Tanteles, G & Frank, M 2022, ' Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) ', European Journal of Medical Genetics, vol. 65, no. 9, 104557 . https://doi.org/10.1016/j.ejmg.2022.104557
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65
Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. Management of patients with vEDS is difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d445e008a563ceddd924e154043dba89
https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669
https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669
Autor:
Stroeks, Sophie L. V. M., Hellebrekers, Debby, Claes, Godelieve R. F., Krapels, Ingrid P. C., Henkens, Michiel H. T. M., Sikking, Maurits, Vanhoutte, Els K., Helderman-van den Enden, Apollonia, Brunner, Han G., van den Wijngaard, Arthur, Verdonschot, Job A. J.
Publikováno v:
European Journal of Human Genetics: EJHG; July 2023, Vol. 31 Issue: 7 p776-783, 8p
Autor:
A Rossetti, A T J Helderman-Van Den Enden, P. G. A. Volders, Roel L.H.M.G. Spätjens, Sandrine R.M. Seyen, Arthur A.M. Wilde
Publikováno v:
EP Europace. 22
Funding Acknowledgements This work was supported by an ESC Research Grant to A.R., and by The Netherlands CardioVascular Research Initiative (CVON PREDICT2), Den Haag, The N Background The DPP6 gene, encoding dipeptidyl aminopeptidase-like protein-6,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f00a0c1c99a2b578d46927a5435a0928
https://doi.org/10.1093/europace/euaa162.186
https://doi.org/10.1093/europace/euaa162.186