Výsledky vyhledávání - Devilee, Peter
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The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency Autor Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter EM
Vydáno 2005Text -
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BRCA1 Mutation Analysis in a Portuguese Population with Early-Onset Breast and/or Ovarian Cancer Autor Soares, Raquel, van Eijk, Ronald, Dias, Aureliano, Botelho, Mónica, Costa, Carla, Amendoeira, Isabel, Lopes, Carlos, Devilee, Peter, Schmitt, Fernando
Vydáno 1999Text -
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Survey on Physicians' Knowledge and Training Needs in Genetic Counseling in Germany Autor Dick, Julia, Aue, Viktoria, Wesselmann, Simone, Brédart, Anne, Dolbeault, Sylvie, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., Rhiem, Kerstin
Vydáno 2021Text -
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Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis Autor Hensen, Erik F, Goeman, Jelle J, Oosting, Jan, Van der Mey, Andel GL, Hogendoorn, Pancras CW, Cremers, Cor WRJ, Devilee, Peter, Cornelisse, Cees J
Vydáno 2009Text -
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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses Autor van der Klift, Heleen M, Jansen, Anne M L, van der Steenstraten, Niki, Bik, Elsa C, Tops, Carli M J, Devilee, Peter, Wijnen, Juul T
Vydáno 2015Text -
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Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 Autor Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Vydáno 2020Text -
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Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 Autor Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Vydáno 2020Text -
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Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study Autor Brédart, Anne, Kop, Jean-Luc, Dick, Julia, Cano, Alejandra, De Pauw, Antoine, Anota, Amélie, Brunet, Joan, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita, Dolbeault, Sylvie
Vydáno 2019Text -
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The functional impact of variants of uncertain significance in BRCA2 Autor Mesman, Romy L. S., Calléja, Fabienne M. G. R., Hendriks, Giel, Morolli, Bruno, Misovic, Branislav, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Vydáno 2018Text -
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Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant Autor Brédart, Anne, De Pauw, Antoine, Anota, Amélie, Tüchler, Anja, Dick, Julia, Müller, Anita, Kop, Jean-Luc, Rhiem, Kerstin, Schmutzler, Rita, Devilee, Peter, Stoppa-Lyonnet, Dominique, Dolbeault, Sylvie
Vydáno 2021Text -
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Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐BRCA1/2 sib trios affected with breast cancer Autor Hilbers, Florentine S., van ‘t Hof, Peter J., Meijers, Caro M., Mei, Hailiang, Michailidou, Kyriaki, Dennis, Joe, Hogervorst, Frans B. L., Nederlof, Petra M., van Asperen, Christi J., Devilee, Peter
Vydáno 2020Text -
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Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling Autor Hilbers, Florentine S., Meijers, Caro M., Laros, Jeroen F. J., van Galen, Michiel, Hoogerbrugge, Nicoline, Vasen, Hans F. A., Nederlof, Petra M., Wijnen, Juul T., van Asperen, Christi J., Devilee, Peter
Vydáno 2013Text -
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Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma Autor Bayley, Jean-Pierre, van Minderhout, Ivonne, Hogendoorn, Pancras C. W., Cornelisse, Cees J., van der Wal, Annemieke, Prins, Frans A., Teppema, Luc, Dahan, Albert, Devilee, Peter, Taschner, Peter E. M.
Vydáno 2009Text -
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A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer Autor Middeldorp, Anneke, Jagmohan-Changur, Shantie, Helmer, Quinta, van der Klift, Heleen M, Tops, Carli MJ, Vasen, Hans FA, Devilee, Peter, Morreau, Hans, Houwing-Duistermaat, Jeanine J, Wijnen, Juul T, van Wezel, Tom
Vydáno 2007Text -
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The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family Autor Hensen, Erik F, Jansen, Jeroen C, Siemers, Maaike D, Oosterwijk, Jan C, Vriends, Annette HJT, Corssmit, Eleonora PM, Bayley, Jean-Pierre, van der Mey, Andel GL, Cornelisse, Cees J, Devilee, Peter
Vydáno 2010Text -
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Familial Adenomatous Polyposis-Associated Desmoids Display Significantly More Genetic Changes than Sporadic Desmoids Autor Robanus-Maandag, Els, Bosch, Cathy, Amini-Nik, Saeid, Knijnenburg, Jeroen, Szuhai, Karoly, Cervera, Pascale, Poon, Raymond, Eccles, Diana, Radice, Paolo, Giovannini, Marco, Alman, Benjamin A., Tejpar, Sabine, Devilee, Peter, Fodde, Riccardo
Vydáno 2011Text -
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Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study Autor Brédart, Anne, De Pauw, Antoine, Tüchler, Anja, Lakeman, Inge M. M., Anota, Amélie, Rhiem, Kerstin, Schmutzler, Rita, van Asperen, Christi J., Devilee, Peter, Stoppa‐Lyonnet, Dominique, Kop, Jean‐Luc, Dolbeault, Sylvie
Vydáno 2022Text