Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

por Omran, Meis, Blomqvist, Lennart, Brandberg, Yvonne, Pal, Niklas, Kogner, Per, Ståhlbom, Anne Kinhult, Tham, Emma, Bajalica-Lagercrantz, Svetlana
Publicado 2020

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

por Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann
Publicado 2022

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience

por Hol, Janna A., Jongmans, Marjolijn C. J., Sudour‐Bonnange, Hélène, Ramírez‐Villar, Gema L., Chowdhury, Tanzina, Rechnitzer, Catherine, Pal, Niklas, Schleiermacher, Gudrun, Karow, Axel, Kuiper, Roland P., de Camargo, Beatriz, Avcin, Simona, Redzic, Danka, Wachtel, Antonio, Segers, Heidi, Vujanic, Gordan M., van Tinteren, Harm, Bergeron, Christophe, Pritchard‐Jones, Kathy, Graf, Norbert, van den Heuvel‐Eibrink, Marry M.
Publicado 2020