Works by Iwarsson, Erik

Results: 27

Confined placental mosaicism of Duchenne muscular dystrophy: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3

By:

Winerdal, Max;
Westenius, Eini;
Granfors, Michaela;
Pettersson, Maria;
Iwarsson, Erik

Publication type:

Article

Fetal Mediastinal Tumor of Neuroepithelial Origin in a Case of Missed Abortion.

Published in:

2012

By:

SIROTKINA, MEELI;
IWARSSON, ERIK;
MARNERIDES, ANDREAS;
PAPADOGIANNAKIS, NIKOS

Publication type:

Case Study

Mapping uncertainty in genomics.

Published in:

Journal of Risk Research, 2018, v. 21, n. 2, p. 117, doi. 10.1080/13669877.2016.1215344

By:

Howard, Heidi Carmen;
Iwarsson, Erik

Publication type:

Article

Preimplantation genetic testing legislation and accessibility in the Nordic countries.

Published in:

2020

By:

Hreinsson, Julius;
Lundin, Kersti;
Iwarsson, Erik;
Hausken, Jon;
Einarsson, Snorri;
Grøndahl, Marie Louise;
Hydén‐Granskog, Christel;
Ingerslev, Hans Jakob;
Hydén-Granskog, Christel

Publication type:

journal article

Preimplantation genetic testing practices in the Nordic countries.

Published in:

2020

By:

Hreinsson, Julius;
Iwarsson, Erik;
Hanson, Charles;
Grøndahl, Marie Louise;
Løssl, Kristine;
Hydén‐Granskog, Christel;
Ingerslev, Hans Jakob;
Petersen, Morten Rønn;
Bredbacka, Peter;
Nøhr, Bugge;
Savolainen, Linda;
Hnida, Christina;
Toft, Christian Liebst Frisk;
Hindkjær, Johnny;
Aagaard, Jørn;
Lundin, Kersti;
Roos, Laura Kirstine Sønderberg;
Hydén-Granskog, Christel;
PGT study group

Publication type:

journal article

Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.

Published in:

2017

By:

Iwarsson, Erik;
Jacobsson, Bo;
Dagerhamn, Jessica;
Davidson, Thomas;
Bernabé, Eduardo;
Heibert Arnlind, Marianne;
Bernabé, Eduardo

Publication type:

journal article

Towards a new era in fetal medicine in the Nordic countries.

Published in:

2016

By:

Sitras, Vasilis;
Brodszki, Jana;
Carlsson, Ylva;
Ebbing, Cathrine;
Eggebø, Torbjørn;
Hardardottir, Hildur;
Haugen, Guttorm;
Heinonen, Seppo;
Iwarsson, Erik;
Jacobsson, Bo;
Jørgensen, Finn Stener;
Lindgren, Peter;
Lingman, Göran;
Makikallio, Kaarin;
Petersen, Olav;
Stefanovic, Vedran;
Sundberg, Karin;
Tabor, Ann;
Tekay, Aydin;
Tiblad, Eleonor

Publication type:

journal article

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086

By:

Nicot, Anne-Sophie;
Toussaint, Anne;
Tosch, Valérie;
Kretz, Christine;
Wallgren-Pettersson, Carina;
Iwarsson, Erik;
Kingston, Helen;
Garnier, Jean-Marie;
Biancalana, Valérie;
Oldfors, Anders;
Mandel, Jean-Louis;
Laporte, Jocelyn

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156088

By:

Sahlin, Ellika;
Nordenskjöld, Magnus;
Gustavsson, Peter;
Wincent, Josephine;
Georgsson, Susanne;
Iwarsson, Erik

Publication type:

Article

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases.

Published in:

Fetal Diagnosis & Therapy, 2014, v. 36, n. 4, p. 326, doi. 10.1159/000361017

By:

Sahlin, Ellika;
Gustavsson, Peter;
Liedén, Agne;
Papadogiannakis, Nikos;
Bjäreborn, Linus;
Pettersson, Karin;
Nordenskjöld, Magnus;
Iwarsson, Erik

Publication type:

Article

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5

By:

Nord, Petra;
Ebanks, Ashley H.;
Peterson, Petra;
Iwarsson, Erik;
Harting, Matthew T.;
Burgos, Carmen Mesas

Publication type:

Article

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5

By:

Nord, Petra;
Ebanks, Ashley H.;
Peterson, Petra;
Iwarsson, Erik;
Harting, Matthew T.;
Burgos, Carmen Mesas

Publication type:

Article

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 8, p. 1564, doi. 10.1111/aogs.14898

By:

Wincent, Josephine;
Helgadóttir, Hafdís T.;
Sergouniotis, Fotios;
Salazar Mantero, Angelo;
Carvalho, Claudia M. B.;
Malmgren, Helena;
Lindstrand, Anna;
Iwarsson, Erik

Publication type:

Article

Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening.

Published in:

2020

By:

Iwarsson, Erik;
Conner, Peter

Publication type:

journal article

Comment on 'Origin of trisomy: no evidence to support the ovarian mosaicism theory'.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1221, doi. 10.1002/pd.3958

By:

Hulten, Maj Anita;
Jonasson, Jon;
Westgren, Magnus;
Jonsson, Anna Maria;
Papadogiannakis, Nikos;
Iwarsson, Erik

Publication type:

Article

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.

Published in:

2001

By:

Fridström, Margareta;
Ährlund-Richter, Lars;
Iwarsson, Erik;
Malmgren, Helena;
Inzunza, José;
Rosenlund, Björn;
Sjöblom, Peter;
Nordenskjöld, Magnus;
Blennow, Elisabeth;
Hovatta, Outi;
Fridström, M;
Ahrlund-Richter, L;
Iwarsson, E;
Malmgren, H;
Inzunza, J;
Rosenlund, B;
Sjöblom, P;
Nordenskjöld, M;
Blennow, E;
Hovatta, O

Publication type:

journal article

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1038, doi. 10.1002/1097-0223(200012)20:13<1038::AID-PD976>3.0.CO;2-8

By:

Iwarsson, Erik;
Malmgren, Helena;
Inzunza, José;
Ährlund-Richter, Lars;
Sjöblom, Peter;
Rosenlund, Björn;
Fridström, Margareta;
Hovatta, Outi;
Nordenskjöld, Magnus;
Blennow, Elisabeth

Publication type:

Article

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

Published in:

Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5

By:

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

Publication type:

Article

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

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2019, v. 14, n. 01, p. 1, doi. 10.1371/journal.pone.0210017

By:

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

Publication type:

Article

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

Published in:

Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 447, doi. 10.1007/s10897-016-9997-y

By:

Georgsson, Susanne;
Sahlin, Ellika;
Iwarsson, Moa;
Nordenskjöld, Magnus;
Gustavsson, Peter;
Iwarsson, Erik

Publication type:

Article

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <italic>PLOD2</italic>.

Published in:

Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 753, doi. 10.1002/jbmr.3348

By:

Leal, Gabriela Ferraz;
Nishimura, Gen;
Voss, Ulrika;
Bertola, Débora Romeo;
Åström, Eva;
Svensson, Johan;
Yamamoto, Guilherme Lopes;
Hammarsjö, Anna;
Horemuzova, Eva;
Papadiogannakis, Nikos;
Iwarsson, Erik;
Grigelioniene, Giedre;
Tham, Emma

Publication type:

Article

Fetal Calcifications Are Associated with Chromosomal Abnormalities.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123343

By:

Sahlin, Ellika;
Sirotkina, Meeli;
Marnerides, Andreas;
Iwarsson, Erik;
Papadogiannakis, Nikos

Publication type:

Article

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

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085313

By:

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

Publication type:

Article

Fetal Membrane Cells for Treatment of Steroid-Refractory Acute Graft-Versus-Host Disease.

Published in:

Stem Cells, 2013, v. 31, n. 3, p. 592, doi. 10.1002/stem.1314

By:

Ringdén, Olle;
Erkers, Tom;
Nava, Silvia;
Uzunel, Mehmet;
Iwarsson, Erik;
Conrad, Réka;
Westgren, Magnus;
Mattsson, Jonas;
Kaipe, Helen

Publication type:

Article

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

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0155-2

By:

Iwarsson, Erik;
Kvist, Ulrik;
Hultén, Maj A.

Publication type:

Article

On the paternal origin of trisomy 21 Downsyndrome.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 4, doi. 10.1186/1755-8166-3-4

By:

Hultén, Maj A.;
Patel, Suketu D.;
Westgren, Magnus;
Papadogiannakis, Nikos;
Jonsson, Anna Maria;
Jonasson, Jon;
Iwarsson, Erik

Publication type:

Article