Search Results - "Jonson, Tord"

Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis by Walther, Charles, Mayrhofer, Markus, Nilsson, Jenny, Hofvander, Jakob, Jonson, Tord, Mandahl, Nils, Øra, Ingrid, Gisselsson, David, Mertens, Fredrik

“…Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents. Alveolar (ARMS) and embryonal (ERMS) histologies predominate, but…”
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay by Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

“…PREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different…”
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ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease by Valind, Anders, Stenström, Pernilla, Samuelsson, Sofie, Jonson, Tord, Eklund, Erik A.

“…De novo mutations in the gene encoding transcription factor ZMIZ1, located on chromosome 10q22, were recently found to be associated with a novel…”
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Structural and Numerical Chromosome Changes in Colon Cancer Develop through Telomere-Mediated Anaphase Bridges, Not through Mitotic Multipolarity by Stewénius, Ylva, Gorunova, Ludmila, Jonson, Tord, Larsson, Nina, Höglund, Mattias, Mandahl, Nils, Mertens, Fredrik, Mitelman, Felix, Gisselsson, David, Vogelstein, Bert

“…Telomere dysfunction has been associated with chromosomal instability in colorectal carcinoma, but the consequences of telomere-dependent instability for…”
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Telomere Dysfunction Triggers Extensive DNA Fragmentation and Evolution of Complex Chromosome Abnormalities in Human Malignant Tumors by Gisselsson, David, Jonson, Tord, Petersén, Åsa, Strömbeck, Bodil, Cin, Paola Dal, Höglund, Mattias, Mitelman, Felix, Mertens, Fredrik, Mandahl, Nils

“…Although mechanisms for chromosomal instability in tumors have been described in animal and in vitro models, little is known about these processes in man. To…”
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Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors by Heidenblad, Markus, Lindgren, David, Jonson, Tord, Liedberg, Fredrik, Veerla, Srinivas, Chebil, Gunilla, Gudjonsson, Sigurdur, Borg, Ake, Månsson, Wiking, Höglund, Mattias

“…Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to…”
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Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications by HEIDENBLAD, Markus, LINDGREN, David, VELTMAN, Joris A, JONSON, Tord, MAHLAMÄKI, Eija H, GORUNOVA, Ludmila, GEURTS VAN KESSEL, Ad, SCHOENMAKERS, Eric F. P. M, HÖGLUND, Mattias

“…DNA copy number alterations are believed to play a major role in the development and progression of human neoplasms. Although most of these genomic imbalances…”
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Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines by HEIDENBLAD, Markus, SCHOENMAKERS, Eric F. P. M, JONSON, Tord, GORUNOVA, Ludmila, VELTMAN, Joris A, VAN KESSEL, Ad Geurts, HÖGLUND, Mattias

“…Pancreatic carcinomas display highly complex chromosomal abnormalities, including many structural and numerical aberrations. There is ample evidence indicating…”
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Distinct Mitotic Segregation Errors Mediate Chromosomal Instability in Aggressive Urothelial Cancers by YUESHENG JIN, STEWENIUS, Ylva, LIEDBERG, Fredrik, GUDJONSSON, Sigurdur, MANSSON, Wiking, HÖGLUND, Mattias, GISSELSSON, David, LINDGREN, David, FRIGYESI, Attila, CALCAGNILE, Olga, JONSON, Tord, EDQVIST, Anna, LARSSON, Nina, LUNDBERG, Lena Maria, CHEBIL, Gunilla

“…Purpose: Chromosomal instability (CIN) is believed to have an important role in the pathogenesis of urothelial cancer (UC). The aim of this study was to…”
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Altered expression of TGFB receptors and mitogenic effects of TGFB in pancreatic carcinomas by Jonson, T, Albrechtsson, E, Axelson, J, Heidenblad, M, Gorunova, L, Johansson, B, Höglund, M

“…Alteration of the transforming growth factor beta (TGFB) signalling pathway is important in pancreatic carcinogenesis, as shown by the frequent inactivation of…”
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Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway by Saba, Karim H, Difilippo, Valeria, Kovac, Michal, Cornmark, Louise, Magnusson, Linda, Nilsson, Jenny, van den Bos, Hilda, Spierings, Diana Cj, Bidgoli, Mahtab, Jonson, Tord, Sumathi, Vaiyapuri P, Brosjö, Otte, Staaf, Johan, Foijer, Floris, Styring, Emelie, Nathrath, Michaela, Baumhoer, Daniel, Nord, Karolin H

“…TP53 is the most frequently mutated gene in human cancer. This gene shows not only loss-of-function mutations but also recurrent missense mutations with…”
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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities by Eisfeldt, Jesper, Ameur, Adam, Lenner, Felix, Ten Berk de Boer, Esmee, Ek, Marlene, Wincent, Josephine, Vaz, Raquel, Ottosson, Jesper, Jonson, Tord, Ivarsson, Sofie, Thunström, Sofia, Topa, Alexandra, Stenberg, Simon, Rohlin, Anna, Sandestig, Anna, Nordling, Margareta, Palmebäck, Pia, Burstedt, Magnus, Nordin, Frida, Stattin, Eva-Lena, Sobol, Maria, Baliakas, Panagiotis, Bondeson, Marie-Louise, Höijer, Ida, Saether, Kristine Bilgrav, Lovmar, Lovisa, Ehrencrona, Hans, Melin, Malin, Feuk, Lars, Lindstrand, Anna

“…Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like…”
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Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation by Elander, Johanna, Ullmark, Tove, Ehrencrona, Hans, Jonson, Tord, Piccinelli, Paul, Samuelsson, Sofie, Löwgren, Karolina, Falkenius-Schmidt, Karolina, Ehinger, Johannes, Stenfeldt, Karin, Värendh, Maria

“…OBJECTIVESThe aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing…”
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Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer by Karlsson, Jenny, Valind, Anders, Holmquist Mengelbier, Linda, Bredin, Sofia, Cornmark, Louise, Jansson, Caroline, Wali, Amina, Staaf, Johan, Viklund, Björn, Øra, Ingrid, Börjesson, Anna, Backman, Torbjörn, Braekeveldt, Noémie, Sandstedt, Bengt, Pal, Niklas, Isaksson, Anders, Lackner, Barbara Gürtl, Jonson, Tord, Bexell, Daniel, Gisselsson, David

“…A major challenge to personalized oncology is that driver mutations vary among cancer cells inhabiting the same tumor. Whether this reflects principally…”
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Neuroblastoma patient‐derived orthotopic xenografts retain metastatic patterns and geno‐ and phenotypes of patient tumours by Braekeveldt, Noémie, Wigerup, Caroline, Gisselsson, David, Mohlin, Sofie, Merselius, My, Beckman, Siv, Jonson, Tord, Börjesson, Anna, Backman, Torbjörn, Tadeo, Irene, Berbegall, Ana P., Öra, Ingrid, Navarro, Samuel, Noguera, Rosa, Påhlman, Sven, Bexell, Daniel

“…Neuroblastoma is a childhood tumour with heterogeneous characteristics and children with metastatic disease often have a poor outcome. Here we describe the…”
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU by Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril

“…Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite…”
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Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers by Valind, Anders, Wessman, Sandra, Pal, Niklas, Karlsson, Jenny, Jonson, Tord, Sandstedt, Bengt, Gisselsson, David

“…Wilms tumors in patients with constitutional WT1 mutations are examples of Knudson's tumor suppressor paradigm, with somatic inactivation of the second allele…”
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Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer by Mengelbier, Linda Holmquist, Karlsson, Jenny, Lindgren, David, Valind, Anders, Lilljebjörn, Henrik, Jansson, Caroline, Bexell, Daniel, Braekeveldt, Noémie, Ameur, Adam, Jonson, Tord, Kultima, Hanna Göransson, Isaksson, Anders, Asmundsson, Jurate, Versteeg, Rogier, Rissler, Marianne, Fioretos, Thoas, Sandstedt, Bengt, Börjesson, Anna, Backman, Torbjörn, Pal, Niklas, Øra, Ingrid, Mayrhofer, Markus, Gisselsson, David

“…Genetic differences among neoplastic cells within the same tumour have been proposed to drive cancer progression and treatment failure. Whether data on…”
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay (S46.008) by Regal, Luc, Martensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Fita, Maria Jesus Juan, Hoogeboom, A Jeannette M, Engman, Mia Olsson, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, Francois, Inge, Ortega, David Gil, Kamsteeg, Erik-Jan, Creemers, John

“…Abstract only…”
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Genomic profiling and directed ex vivo drug analysis of an unclassifiable myelodysplastic/myeloproliferative neoplasm progressing into acute myeloid leukemia by Hyrenius-Wittsten, Axel, Sturesson, Helena, Bidgoli, Mahtab, Jonson, Tord, Ehinger, Mats, Lilljebjörn, Henrik, Scheding, Stefan, Andersson, Anna K.

“…Myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN‐U) are rare genetically heterogeneous hematologic diseases associated with older age and…”
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