Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Johanna Winberg"'
Autor:
Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehrén, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital malformations, the aim of our study w
Externí odkaz:
https://doaj.org/article/76332acb74b144faaa2979a8badaa4a0
Autor:
Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85313 (2014)
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples fro
Externí odkaz:
https://doaj.org/article/be03f2e64237499597fc781bc3a38ebc
Autor:
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin
Publikováno v:
Nordenskjöld, A, Arkani, S, Pettersson, M, Winberg, J, Cao, J, Fossum, M, Anderberg, M, Barker, G, Holmdahl, G & Lundin, J 2023, ' Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 378-390 . https://doi.org/10.1002/ajmg.a.63031
Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplicat
Autor:
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck, Jonas Carlsten, Jesper Eisfeldt, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Hafdís T. Helgadóttir, Maritta Hellström-Pigg, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Lars-Åke Levin, Agne Lieden, Hillevi Lindelöf, Helena Malmgren, Daniel Nilsson, Eva Svensson, Martin Paucar, Ellika Sahlin, Bianca Tesi, Emma Tham, Johanna Winberg, Max Winerdal, Josephine Wincent, Maria Johansson Soller, Maria Pettersson, Ann Nordgren
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines
Autor:
Ellika Sahlin, Tomas Wester, Magnus Larsson, Magdalena Fossum, Peter Gustavsson, Ann Nordgren, Johanna Winberg, H. Ehrén, Agneta Nordenskjöld
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital malformations, the aim of our study was to inv
Autor:
Sune Johansson, Peter Gustavsson, Agne Liedén, Torsten Malm, Boris Nilsson, Agneta Nordenskjöld, Ann Nordgren, Johanna Winberg, Hakan Berggren, Jens Johansson Ramgren
Publikováno v:
European Journal of Medical Genetics. 58:129-133
The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart
Autor:
Kristina Lagerstedt Robinson, Nicole Lesko, Karin Naess, Agneta Nordenskjöld, Caroline Graff, Agne Liedén, Peter Gustavsson, Johanna Winberg, Ann Nordgren, Britt-Marie Anderlid, Rolf Wibom
Publikováno v:
American Journal of Medical Genetics Part A. 161:1284-1290
We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondri
Autor:
Marie-Louise Bondeson, Kristina Lagerstedt-Robinson, Erik Iwarsson, Johanna Winberg, Agneta Nordenskjöld, Peter Gustavsson, Elisabeth Blennow, Anna Nordenström, Johanna Lundin, Ann Nordgren, Britt-Marie Anderlid
Publikováno v:
American Journal of Medical Genetics Part A. :2277-2286
Whole-body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We have studied the molecular background and discuss the likely mechanism for the chimerism in a patient with a 46,XX/47,XY,+14
Autor:
Göran Annerén, Johanna Winberg, Ellika Sahlin, Erik Iwarsson, Edvard Nordenskjöld, Peter Gustavsson, Nikos Papadogiannakis, Ann Nordgren, Pär-Johan Svensson, Frideborg Bradley, Agneta Nordenskjöld
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85313 (2014)
PLoS ONE
PLoS ONE
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples fro
Autor:
Pär-Johan Svensson, Agneta Nordenskjöld, G. Palmer, Shulu Zu, Johanna Winberg, Tomas Wester, Fabian Arnberg
Publikováno v:
Journal of pediatric surgery. 46(7)
Background Currarino syndrome (CS) is a triad consisting of partial sacral agenesis, presacral mass, and anorectal malformations, typically anal stenosis but the phenotype varies. The main cause of this monogenic disorder is mutations in the motor ne