Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

por Iwarsson, Erik, Kvist, Ulrik, Hultén, Maj A.
Publicado 2015

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

por Hultén, Maj A., Jonasson, Jon, Nordgren, Ann, Iwarsson, Erik
Publicado 2010

Maternal Germinal Trisomy 21 in Down Syndrome

por Hultén, Maj A., Öijerstedt, Linn, Iwarsson, Erik, Jonasson, Jon
Publicado 2014

Fetal Calcifications Are Associated with Chromosomal Abnormalities

por Sahlin, Ellika, Sirotkina, Meeli, Marnerides, Andreas, Iwarsson, Erik, Papadogiannakis, Nikos
Publicado 2015

Confined placental mosaicism of Duchenne muscular dystrophy: a case report

por Winerdal, Max, Westenius, Eini, Granfors, Michaela, Pettersson, Maria, Iwarsson, Erik
Publicado 2020

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

por Sahlin, Ellika, Nordenskjöld, Magnus, Gustavsson, Peter, Wincent, Josephine, Georgsson, Susanne, Iwarsson, Erik
Publicado 2016

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden

por Georgsson, Susanne, Sahlin, Ellika, Iwarsson, Moa, Nordenskjöld, Magnus, Gustavsson, Peter, Iwarsson, Erik
Publicado 2016

On the origin of trisomy 21 Down syndrome

por Hultén, Maj A, Patel, Suketu D, Tankimanova, Maira, Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria, Iwarsson, Erik
Publicado 2008

On the paternal origin of trisomy 21 Down syndrome

por Hultén, Maj A, Patel, Suketu D, Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria, Jonasson, Jon, Iwarsson, Erik
Publicado 2010

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

por Sahlin, Ellika, Gréen, Anna, Gustavsson, Peter, Liedén, Agne, Nordenskjöld, Magnus, Papadogiannakis, Nikos, Pettersson, Karin, Nilsson, Daniel, Jonasson, Jon, Iwarsson, Erik
Publicado 2019

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

por Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta
Publicado 2014

Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia

por Wedenoja, Satu, Yoshihara, Masahito, Teder, Hindrek, Sariola, Hannu, Gissler, Mika, Katayama, Shintaro, Wedenoja, Juho, Häkkinen, Inka M., Ezer, Sini, Linder, Nina, Lundin, Johan, Skoog, Tiina, Sahlin, Ellika, Iwarsson, Erik, Pettersson, Karin, Kajantie, Eero, Mokkonen, Mikael, Heinonen, Seppo, Laivuori, Hannele, Krjutškov, Kaarel, Kere, Juha
Publicado 2020

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell...

por Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Publicado 2019

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

por Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Publicado 2021