Full Text Journal Articles by
Author Catarina Lundin

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G Postema, Ahmad S Amin, Eline A Nannenberg, James S Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M Beckmann, Stéphane Bézieau, J Martijn Bos, Jeroen Breckpot, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid P C Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L Loeys, Catarina Lundin, Takeru Makiyama, Jacques Mansourati, Raphaël P Martins, Andrea Mazzanti, Stellan Mörner, Carlo Napolitano, Kimie Ohkubo, Michael Papadakis, Boris Rudic, Maria Sabater Molina, Frédéric Sacher, Hatice Sahin, Georgia Sarquella-Brugada, Regina Sebastiano, Sanjay Sharma, Mary N Sheppard, Keiko Shimamoto, M Benjamin Shoemaker, Birgit Stallmeyer, Johannes Steinfurt, Yuji Tanaka, David J Tester, Keisuke Usuda, Paul A van der Zwaag, Sonia Van Dooren, Lut Van Laer, Annika Winbo, Bo G Winkel, Kenichiro Yamagata, Sven Zumhagen, Paul G A Volders, Steven A Lubitz, Charles Antzelevitch, Pyotr G Platonov, Katja E Odening, Dan M Roden, Jason D Roberts, Jonathan R Skinner, Jacob Tfelt-Hansen, Maarten P van den Berg, Morten S Olesen, Pier D Lambiase, Martin Borggrefe, Kenshi Hayashi, Annika Rydberg, Tadashi Nakajima, Masao Yoshinaga, Johan B Saenen, Stefan Kääb, Pedro Brugada, Tomas Robyns, Daniela F Giachino, Michael J Ackerman, Ramon Brugada, Josep Brugada, Juan R Gimeno, Can Hasdemir, Pascale Guicheney, Silvia G Priori, Eric Schulze-Bahr, Naomasa Makita, Peter J Schwartz, Wataru Shimizu, Takeshi Aiba, Jean-Jacques Schott, Richard Redon, Seiko Ohno, Vincent Probst, , Elijah R Behr, Julien Barc, Connie R Bezzina,

PURPOSE:Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, :]

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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.

Monika Meinert, Elisabet Englund, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin, Elisabeth Wittström,

Purpose: To describe the phenotype and genotype in a young woman with Danon disease. Methods: The patient underwent an ophthalmic examination including best corrected visual acuity (BCVA), fundus photography and fundus autofluorescence (FAF), full-field electroretinography (full-field ERG), multifocal ERG, optical coherence tomography (OCT) and SAP-Humphrey 30-2 at the ages of ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2019, 40(3):227-236]

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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

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

Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2016, 24(12):1783-1791]

Cited: 3 times

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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg, Pierre-Simon Rohrlich,

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 multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region ... Read more >>

J Hematol Oncol (Journal of hematology & oncology)
[2014, 7:82]

Cited: 4 times

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Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.

Catarina Lundin, Erik Forestier, Mette Klarskov Andersen, Kirsi Autio, Gisela Barbany, Lucia Cavelier, Irina Golovleva, Sverre Heim, Kristiina Heinonen, Randi Hovland, Johann H Johannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist, Bertil Johansson, , , ,

BACKGROUND: Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. METHODS: To address clinical and genetic differences between DS-ALL ... Read more >>

J Hematol Oncol (Journal of hematology & oncology)
[2014, 7:32]

Cited: 3 times

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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.

Catarina Lundin, Lars Hjorth, Mikael Behrendtz, Mats Ehinger, Andrea Biloglav, Bertil Johansson,

Chromosome banding analyses reveal secondary chromosome abnormalities in addition to the MYC translocations t(8;14)(q24;q32), t(8;22)(q24;q11), and t(2;8)(p11;q24) in 60%-80% of Burkitt lymphomas/leukemias (BL). The high incidence of such aberrations indicates that additional changes are important, perhaps necessary, for malignant transformation, i.e., the 8q24/MYC rearrangements may not be sufficient. To investigate ... Read more >>

Genes Chromosomes Cancer (Genes, chromosomes & cancer)
[2013, 52(4):370-377]

Cited: 3 times

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High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.

Catarina Lundin, Lars Hjorth, Mikael Behrendtz, Ann Nordgren, Lars Palmqvist, Mette Klarskov Andersen, Andrea Biloglav, Erik Forestier, Kajsa Paulsson, Bertil Johansson,

Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with Down syndrome (ML-DS and DS-ALL) have revealed significant differences in abnormality patterns between such cases and acute leukemias in general. Also, certain molecular genetic aberrations characterize DS-related leukemias, such as GATA1 mutations in ML-DS and deregulation of the ... Read more >>

Genes Chromosomes Cancer (Genes, chromosomes & cancer)
[2012, 51(2):196-206]

Cited: 16 times

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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.

Catarina Lundin, Andrea Horvat, Karin Karlsson, Tor Olofsson, Kajsa Paulsson, Bertil Johansson,

Leuk. Res. (Leukemia research)
[2011, 35(6):e75-6]

Cited: 4 times

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Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy.

Elisabeth Ljunger, Anneli Stavreus-Evers, Sven Cnattingius, Anders Ekbom, Catarina Lundin, Göran Annéren, Inger Sundström-Poromaa,

OBJECTIVE: To evaluate a possible correlation between transvaginal ultrasound findings in miscarriages and cytogenetic analyses from chorionic villi obtained by dilatation and curettage. DESIGN: Prospective, population-based study. SETTING: University-based hospital. PATIENT(S): Five hundred seventy-six women with spontaneous miscarriage diagnosed between 6 and 12 completed pregnancy weeks. INTERVENTION(S): Transvaginal ultrasonography and ... Read more >>

Fertil. Steril. (Fertility and sterility)
[2011, 95(1):221-224]

Cited: 10 times

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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.

Catarina Lundin, Josef Davidsson, Lars Hjorth, Mikael Behrendtz, Bertil Johansson,

Br. J. Haematol. (British journal of haematology)
[2009, 146(1):113-115]

Cited: 4 times

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[Hereditary risk of sudden cardiac death--genetic investigation of the family].

Catarina Lundin, Pyotr Platonov, Ulf Kristoffersson,

Lakartidningen (Lakartidningen)
[2009, 106(15-16):1089-1093]

Cited: 0 times

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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.

Catarina Lundin, Jesper Heldrup, Tomas Ahlgren, Tor Olofsson, Bertil Johansson,

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 ascertained in the literature, focusing on age and gender distribution, peripheral blood values, immunophenotypic data, survival and additional chromosomal changes. Most patients are children or young adults, with ... Read more >>

Eur. J. Haematol. (European journal of haematology)
[2009, 82(1):46-53]

Cited: 13 times

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Chromosomal anomalies in first-trimester miscarriages.

Elisabeth Ljunger, Sven Cnattingius, Catarina Lundin, Göran Annerén,

BACKGROUND: It is well known that a large proportion of first-trimester spontaneous abortions is caused by chromosomal disorders. The present study represents a unique material and the success rate of the karyotyping was high. METHODS: Chromosomal analysis from chorionic villus sampling of 259 of 304 consecutive first-trimester miscarriages in the ... Read more >>

Acta Obstet Gynecol Scand (Acta obstetricia et gynecologica Scandinavica)
[2005, 84(11):1103-1107]

Cited: 48 times

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ABSORBENT PRODUCT.

CATARINA LUNDIN,

The invention relates to an absorbent product such as a sanitary towel, an incontinence pad, a panty liner or the like, which has a longitudinal direction (50) and a transverse direction (52), the product comprising a surface layer (22) intended to face a wearer, a backing layer (24) intended to ... Read more >>

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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.

Erik Forestier, Sverre Heim, Elisabeth Blennow, Georg Borgström, Gösta Holmgren, Kristiina Heinonen, Johann Johannsson, Gitte Kerndrup, Mette Klarskov Andersen, Catarina Lundin, Ann Nordgren, Richard Rosenquist, Birgitta Swolin, Bertil Johansson, , , ,

Between 1993 and 2001, 318 children were diagnosed with acute myeloid leukaemia (AML) in the Nordic countries. The patient group comprised 237 children < 15 years of age with de novo AML, 42 children < 15 years with Down syndrome (DS) and de novo AML, 18 adolescents 15-18 years of ... Read more >>

Br. J. Haematol. (British journal of haematology)
[2003, 121(4):566-577]

Cited: 38 times

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Trisomy 4q syndrome: presentation of a new case and review of the literature.

Catarina Lundin, Lore Zech, Kerstin Sjörs, Claes Wadelius, Göran Annerén,

We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27 to 4q35. The aberration resulted from an unbalanced translocation of material from 4q to the short arm of chromosome 7, as evident from fluorescent in ... Read more >>

Ann. Genet. (Annales de genetique)
[2002, 45(2):53-57]

Cited: 14 times

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