Search Results - "Diaz de Ståhl, Teresita"

Somatic mosaicism for copy number variation in differentiated human tissues by Piotrowski, Arkadiusz, Bruder, Carl E.G, Andersson, Robin, de Ståhl, Teresita Diaz, Menzel, Uwe, Sandgren, Johanna, Poplawski, Andrzej, von Tell, Desiree, Crasto, Chiquito, Bogdan, Adam, Bartoszewski, Rafal, Bebok, Zsuzsa, Krzyzanowski, Maciej, Jankowski, Zbigniew, Partridge, E. Christopher, Komorowski, Jan, Dumanski, Jan P

“…Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes…”
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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation by Maya-González, Carolina, Wessman, Sandra, Lagerstedt-Robinson, Kristina, Taylan, Fulya, Tesi, Bianca, Kuchinskaya, Ekaterina, McCluggage, W Glenn, Poluha, Anna, Holm, Stefan, Nergårdh, Ricard, Díaz De Ståhl, Teresita, Höybye, Charlotte, Tettamanti, Giorgio, Delgado-Vega, Angelica Maria, Skarin Nordenvall, Anna, Nordgren, Ann

“…Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical…”
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Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer by Forsberg, Lars A, Rasi, Chiara, Malmqvist, Niklas, Davies, Hanna, Pasupulati, Saichand, Pakalapati, Geeta, Sandgren, Johanna, de Ståhl, Teresita Diaz, Zaghlool, Ammar, Giedraitis, Vilmantas, Lannfelt, Lars, Score, Joannah, Cross, Nicholas C P, Absher, Devin, Janson, Eva Tiensuu, Lindgren, Cecilia M, Morris, Andrew P, Ingelsson, Erik, Lind, Lars, Dumanski, Jan P

“…Lars Forsberg, Jan Dumanski and colleagues report that age-related loss of chromosome Y in peripheral blood is associated with increased risks of all-cause…”
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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles by Bruder, Carl E.G., Piotrowski, Arkadiusz, Gijsbers, Antoinet A.C.J., Andersson, Robin, Erickson, Stephen, Diaz de Ståhl, Teresita, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E. Christopher, Tiwari, Hemant, Allison, David B., Komorowski, Jan, van Ommen, Gert-Jan B., Boomsma, Dorret I., Pedersen, Nancy L., den Dunnen, Johan T., Wirdefeldt, Karin, Dumanski, Jan P.

“…The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup…”
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Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation by Razzaghian, Hamid Reza, Shahi, Mehdi Hayat, Forsberg, Lars A., de Ståhl, Teresita Diaz, Absher, Devin, Dahl, Niklas, Westerman, Maxwell P., Dumanski, Jan P.

“…Somatic genetic variation in health and disease is poorly explored. Monozygotic (MZ) twins are a suitable model for studies of somatic mosaicism since genetic…”
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Efficient IgG-Mediated Suppression of Primary Antibody Responses in Fcγ Receptor-Deficient Mice by Mikael C. I. Karlsson, Wernersson, Sara, de Stahl, Teresita Diaz, Gustavsson, Susanne, Heyman, Birgitta

“…IgG antibodies can suppress more than 99% of the antibody response against the antigen to which they bind. This is used clinically to prevent rhesus-negative…”
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Human cytomegalovirus tegument protein pp65 is detected in all intra- and extra-axial brain tumours independent of the tumour type or grade by Libard, Sylwia, Popova, Svetlana N, Amini, Rose-Marie, Kärjä, Vesa, Pietiläinen, Timo, Hämäläinen, Kirsi M, Sundström, Christer, Hesselager, Göran, Bergqvist, Michael, Ekman, Simon, Zetterling, Maria, Smits, Anja, Nilsson, Pelle, Pfeifer, Susan, de Ståhl, Teresita Diaz, Enblad, Gunilla, Ponten, Fredrik, Alafuzoff, Irina

“…Human cytomegalovirus (HCMV) has been indicated being a significant oncomodulator. Recent reports have suggested that an antiviral treatment alters the outcome…”
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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer by Wadensten, Elisabeth, Wessman, Sandra, Abel, Frida, Diaz De Ståhl, Teresita, Tesi, Bianca, Orsmark Pietras, Christina, Arvidsson, Linda, Taylan, Fulya, Fransson, Susanne, Vogt, Hartmut, Poluha, Anna, Pradhananga, Sailendra, Hellberg, Maria, Lagerstedt-Robinson, Kristina, Raj Somarajan, Praveen, Samuelsson, Sofie, Orrsjö, Sara, Maqbool, Khurram, Henning, Karin, Strid, Tobias, Ek, Torben, Fagman, Henrik, Olsson Bontell, Thomas, Martinsson, Tommy, Puls, Florian, Kogner, Per, Wirta, Valtteri, Pronk, Cornelis Jan, Wille, Joakim, Rosenquist, Richard, Nistér, Monica, Mertens, Fredrik, Sabel, Magnus, Norén-Nyström, Ulrika, Grillner, Pernilla, Nordgren, Ann, Ljungman, Gustaf, Sandgren, Johanna, Gisselsson, David

“…Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in…”
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Enhanced susceptibility to low-dose collagen-induced arthritis in CR1/2-deficient female mice--possible role of estrogen on CR1 expression by Nilsson, Kajsa E, Andrén, Maria, de Ståhl, Teresita Diaz, Kleinau, Sandra

“…The influence of complement receptor 1 and 2 (CR1/2) was investigated on the susceptibility to low-dose collagen-induced arthritis (CIA) in wild-type (WT) and…”
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Spatially resolved clonal copy number alterations in benign and malignant tissue by Erickson, Andrew, He, Mengxiao, Berglund, Emelie, Marklund, Maja, Mirzazadeh, Reza, Schultz, Niklas, Kvastad, Linda, Andersson, Alma, Bergenstråhle, Ludvig, Bergenstråhle, Joseph, Larsson, Ludvig, Alonso Galicia, Leire, Shamikh, Alia, Basmaci, Elisa, Díaz De Ståhl, Teresita, Rajakumar, Timothy, Doultsinos, Dimitrios, Thrane, Kim, Ji, Andrew L., Khavari, Paul A., Tarish, Firaz, Tanoglidi, Anna, Maaskola, Jonas, Colling, Richard, Mirtti, Tuomas, Hamdy, Freddie C., Woodcock, Dan J., Helleday, Thomas, Mills, Ian G., Lamb, Alastair D., Lundeberg, Joakim

“…Defining the transition from benign to malignant tissue is fundamental to improving early diagnosis of cancer 1 . Here we use a systematic approach to study…”
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Distal 22q11.2 microduplication encompassing the BCR gene by Descartes, Maria, Franklin, Judy, de Ståhl, Teresita Diaz, Piotrowski, Arkadiusz, Bruder, Carl E.G., Dumanski, Jan P., Carroll, Andrew J., Mikhail, Fady M.

“…Chromosome 22 band q11.2 has been recognized to be highly susceptible to subtle microdeletions and microduplications, which have been attributed to the…”
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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene by Mikhail, Fady M., Descartes, Maria, Piotrowski, Arkadiusz, Andersson, Robin, Diaz de Ståhl, Teresita, Komorowski, Jan, Bruder, Carl E.G., Dumanski, Jan P., Carroll, Andrew J.

“…Susceptibility of the chromosome 22q11.2 region to rearrangements has been recognized on the basis of common clinical disorders such as the…”
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Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array by Mantripragada, Kiran K., de Ståhl, Teresita Díaz, Patridge, Chris, Menzel, Uwe, Andersson, Robin, Chuzhanova, Nadia, Kluwe, Lan, Guha, Abhijit, Mautner, Victor, Dumanski, Jan P., Upadhyaya, Meena

“…Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for…”
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Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression by POPŁAWSKI, Andrzej B, JANKOWSKI, Michat, KACZMARCZYK, Aneta, BENETKIEWICZ, Magdalena, ANDERSSON, Robin, SANDGREN, Johanna, ZEGARSKA, Barbara, BALA, Dariusz, SRUTEK, Ewa, ALLISON, David B, PIOTROWSKI, Arkadiusz, ZEGARSKI, Wojciech, ERICKSON, Stephen W, DUMANSKI, Jan P, DIAZ DE STAHL, Teresita, PARTRIDGE, E. Christopher, CRASTO, Chiquito, JINGYU GUO, GIBSON, John, MENZEL, Uwe, BRUDER, Carl Eg

“…Breast cancer is a major cause of morbidity and mortality in women and its metastatic spread is the principal reason behind the fatal outcome…”
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Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma by Nord, Helena, Segersten, Ulrika, Sandgren, Johanna, Wester, Kenneth, Busch, Christer, Menzel, Uwe, Komorowski, Jan, Dumanski, Jan P., Malmström, Per‐Uno, de Ståhl, Teresita Díaz

“…Urinary bladder cancer is a heterogeneous disease with tumors ranging from papillary noninvasive (stage Ta) to solid muscle infiltrating tumors (stage T2+)…”
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Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency by Díaz de Ståhl, Teresita, Grillner, Pernilla, Asmundsson, Jurate, Marino, Ana Maria, Holm, Stefan, Sandgren, Johanna, Nistér, Monica

“…Background. AT/RTs are rare aggressive brain tumours, mainly affecting young children. Most cases present with genetic inactivation of SMARCB1, a core member…”
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Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array by Nord, Helena, Hartmann, Christian, Andersson, Robin, Menzel, Uwe, Pfeifer, Susan, Piotrowski, Arkadiusz, Bogdan, Adam, Kloc, Wojciech, Sandgren, Johanna, Olofsson, Tommie, Hesselager, Göran, Blomquist, Erik, Komorowski, Jan, von Deimling, Andreas, Bruder, Carl E G, Dumanski, Jan P, Díaz de Ståhl, Teresita

“…Glioblastomas (GBs) are malignant CNS tumors often associated with devastating symptoms. Patients with GB have a very poor prognosis, and despite treatment,…”
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Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis by Sandgren, Johanna, Diaz de Ståhl, Teresita, Andersson, Robin, Menzel, Uwe, Piotrowski, Arkadiusz, Nord, Helena, Bäckdahl, Martin, Kiss, Nimrod B, Brauckhoff, Michael, Komorowski, Jan, Dralle, Henning, Hessman, Ola, Larsson, Catharina, Åkerström, Göran, Bruder, Carl, Dumanski, Jan P, Westin, Gunnar

“…Pheochromocytomas and abdominal paragangliomas are adrenal and extra-adrenal catecholamine-producing tumours. They arise due to heritable cancer syndromes, or…”
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A segmental maximum a posteriori approach to genome-wide copy number profiling by Andersson, Robin, Bruder, Carl E. G., Piotrowski, Arkadiusz, Menzel, Uwe, Nord, Helena, Sandgren, Johanna, Hvidsten, Torgeir R., Diaz de Ståhl, Teresita, Dumanski, Jan P., Komorowski, Jan

“…Motivation: Copy number profiling methods aim at assigning DNA copy numbers to chromosomal regions using measurements from microarray-based comparative genomic…”
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Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature by Maya‐González, Carolina, Delgado‐Vega, Angelica Maria, Taylan, Fulya, Lagerstedt Robinson, Kristina, Hansson, Lina, Pal, Niklas, Fagman, Henrik, Puls, Florian, Wessman, Sandra, Stenman, Jakob, Georgantzi, Kleopatra, Fransson, Susanne, Díaz De Ståhl, Teresita, Ek, Torben, Palmer, Ruth, Tesi, Bianca, Kogner, Per, Martinsson, Tommy, Nordgren, Ann

“…Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in FBN1, with a hitherto unknown association with…”
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