Search Results - "Lundin, Catarina"

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy by Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

“…Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients…”
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Chromosomal anomalies in first-trimester miscarriages by Ljunger, Elisabeth, Cnattingius, Sven, Lundin, Catarina, Annerén, Göran

“…It is well known that a large proportion of first-trimester spontaneous abortions is caused by chromosomal disorders. The present study represents a unique…”
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Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy by Ljunger, Elisabeth, M.D, Stavreus-Evers, Anneli, Ph.D, Cnattingius, Sven, M.D., Ph.D, Ekbom, Anders, M.D., Ph.D, Lundin, Catarina, M.D, Annéren, Göran, M.D., Ph.D, Sundström-Poromaa, Inger, M.D., Ph.D

“…Objective To evaluate a possible correlation between transvaginal ultrasound findings in miscarriages and cytogenetic analyses from chorionic villi obtained by…”
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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma by Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon

“…Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a…”
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Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries by Lundin, Catarina, Forestier, Erik, Klarskov Andersen, Mette, Autio, Kirsi, Barbany, Gisela, Cavelier, Lucia, Golovleva, Irina, Heim, Sverre, Heinonen, Kristiina, Hovland, Randi, Johannsson, Johann H, Kjeldsen, Eigil, Nordgren, Ann, Palmqvist, Lars, Johansson, Bertil

“…Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs…”
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PO-02-085 GENETIC FACTORS PREDISPOSING TO CARDIAC EVENTS IN CONCEALED LONG QT PATIENTS by Savelev, Aleksei, Dahlberg, Pia, Christensen, Alex, Bugge, Cecilie, Bulatovic, Ivana, Svensson, Anneli, Leren, Ida S., Kock, Thilde O., Gardovic, Teodora, Roijer, Rebecka, Markljung, Minna, Ringborn, Michael, Graff, Claus, Lundin, Catarina, Larsson, Nina, Bundgaard, Henning, Haugaa, Kristina H., Platonov, Pyotr G.

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls by Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Glinge, Charlotte, Nannenberg, Eline A., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Clauss, Sebastian, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Ellinor, Patrick T., Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P.C., Kurabayashi, Masahiko, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Sahin, Hatice, Sarquella-Brugada, Georgia, Sharma, Sanjay, Sheppard, Mary N., Shoemaker, M.Benjamin, Stallmeyer, Birgit, Tanaka, Yuji, Tester, David J., van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G.A., Lubitz, Steven A., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Arnaout, Alain Al, Amelot, Mathieu, Anselme, Frédéric, Billon, Olivier, Jesel, Laurence, Laurent, Gabriel, Maury, Philippe, Pasquie, Jean-Luc, Wiart, Francois, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

“…Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long…”
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Evolution of P-wave indices during long-term follow-up as markers of atrial substrate progression in arrhythmogenic right ventricular cardiomyopathy by Baturova, Maria A, Svensson, Anneli, Aneq, Meriam Åström, Svendsen, Jesper H, Risum, Niels, Sherina, Valeriia, Bundgaard, Henning, Meurling, Carl, Lundin, Catarina, Carlson, Jonas, Platonov, Pyotr G

“…Abstract Aims Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) have increased prevalence of atrial arrhythmias indicating atrial…”
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Predisposition to Burkitt Lymphoma in Williams-Beuren Syndrome by Guenat, David, Rizzari, Carmelo, Lundin, Catarina, Borg, Christophe, Soulier, Jean, Rohrlich, Pierre-Simon

“…Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by a 1.5 Mb hemizygous deletion at chromosome 7q11.23. Here, we report two novel cases of…”
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls by Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter, Amin, Ahmad, Nannenberg, Eline, Ware, James, Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt, Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick, Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen, Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P.C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart, Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël, Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary, Shimamoto, Keiko, Shoemaker, M.Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David, Usuda, Keisuke, van der Zwaag, Paul, van Dooren, Sonia, van Laer, Lut, Winbo, Annika, Winkel, Bo, Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G.A., Lubitz, Steven, Antzelevitch, Charles, Platonov, Pyotr, Odening, Katja, Roden, Dan, Roberts, Jason, Skinner, Jonathan, Tfelt-Hansen, Jacob, van den Berg, Maarten, Olesen, Morten, Lambiase, Pier, Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan, Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela

“…Abstract Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular or biventricular dilatation and systolic dysfunction in the absence of…”
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Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene by Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, Elisabeth

“…: To describe the phenotype and genotype in a young woman with Danon disease. : The patient underwent an ophthalmic examination including best corrected visual…”
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls by Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter, Amin, Ahmad, Nannenberg, Eline, Ware, James, Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt, Bézieau, Stéphane, Bos, J Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick, Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen, Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid, Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart, Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël, Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary, Shimamoto, Keiko, Shoemaker, M Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David, Usuda, Keisuke, van Der Zwaag, Paul, van Dooren, Sonia, van Laer, Lut, Winbo, Annika, Winkel, Bo, Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul, Lubitz, Steven, Antzelevitch, Charles, Platonov, Pyotr, Odening, Katja, Roden, Dan, Roberts, Jason, Skinner, Jonathan, Tfelt-Hansen, Jacob, van den Berg, Maarten, Olesen, Morten, Lambiase, Pier, Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan, Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela

“…Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease…”
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Submicroscopic genomic imbalances in burkitt lymphomas/leukemias: Association with age and further evidence that 8q24/MYC translocations are not sufficient for leukemogenesis by Lundin, Catarina, Hjorth, Lars, Behrendtz, Mikael, Ehinger, Mats, Biloglav, Andrea, Johansson, Bertil

“…Chromosome banding analyses reveal secondary chromosome abnormalities in addition to the MYC translocations t(8;14)(q24;q32), t(8;22)(q24;q11), and…”
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B-cell precursor t(8;14)(q11;q32)-positive acute lymphoblastic leukemia in children is strongly associated with Down syndrome or with a concomitant Philadelphia chromosome by Lundin, Catarina, Heldrup, Jesper, Ahlgren, Tomas, Olofsson, Tor, Johansson, Bertil

“…We review the clinical and cytogenetic features of 44 acute lymphoblastic leukemias (ALLs) with t(8;14)(q11;q32), including three from our department and 41…”
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Tiling resolution array‐based comparative genomic hybridisation analyses of acute lymphoblastic leukaemias in children with Down syndrome reveal recurrent gain of 8q and deletions of 7p and 9p by Lundin, Catarina, Davidsson, Josef, Hjorth, Lars, Behrendtz, Mikael, Johansson, Bertil

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High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome by Lundin, Catarina, Hjorth, Lars, Behrendtz, Mikael, Nordgren, Ann, Palmqvist, Lars, Andersen, Mette Klarskov, Biloglav, Andrea, Forestier, Erik, Paulsson, Kajsa, Johansson, Bertil

“…Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with Down syndrome (ML‐DS and DS‐ALL) have revealed significant…”
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t(9;11)(p22;p15) [ NUP98 / PSIP1 ] is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens by Lundin, Catarina, Horvat, Andrea, Karlsson, Karin, Olofsson, Tor, Paulsson, Kajsa, Johansson, Bertil

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Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome by Fernlund, E., Lundin, C., Hertervig, E., Kongstad, O., Alders, M., Platonov, P.

“…Background Andersen‐Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life‐threatening…”
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Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001 by Forestier, Erik, Heim, Sverre, Blennow, Elisabeth, Borgström, Georg, Holmgren, Gösta, Heinonen, Kristiina, Johannsson, Johann, Kerndrup, Gitte, Andersen, Mette Klarskov, Lundin, Catarina, Nordgren, Ann, Rosenquist, Richard, Swolin, Birgitta, Johansson, Bertil

“…Between 1993 and 2001, 318 children were diagnosed with acute myeloid leukaemia (AML) in the Nordic countries. The patient group comprised 237 children < 15…”
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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma by Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon

“…Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a…”
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