Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Göran, Annerén"'
Autor:
Josefin Johansson, Sarah Lidéus, Ida Höijer, Adam Ameur, Sanna Gudmundsson, Göran Annerén, Marie-Louise Bondeson, Maria Wilbe
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits, however accurate assessment remains challenging with current methods. We developed a novel strategy using amplification-free Cas9 enrichment and Oxford
Externí odkaz:
https://doaj.org/article/1a5f041a671a44b5858911c375c525c1
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102081- (2020)
Down syndrome (DS) is caused by trisomy for chromosome 21 (T21). We generated two induced pluripotent stem cell (iPSC) lines from skin fibroblasts of two males with DS using Sendai virus delivery of OCT4, SOX2, KLF4, and c-MYC. Characterization of th
Externí odkaz:
https://doaj.org/article/abd546fc4ef240dd82ebc52a16879d7b
Autor:
Gudrun Aubertin, Frank Rutsch, Gianmauro Cuccuru, Laura Crisponi, Insa Buers, Manuela Oppo, Paolo Uva, Eva-Lena Stattin, Andrew E. Fry, Ivana Persico, Gurdip Hulait, Andrea Angius, María Palomares-Bralo, Fernando Santos-Simarro, Göran Annerén, Margot I. Van Allen, Francesco Muntoni, Giangiorgio Crisponi, Stefano Onano, Francesco Cucca
Publikováno v:
Clinical Genetics. 95:607-614
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by col
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070c99ea26ca0c56947b368bd431615e
https://doi.org/10.1111/cge.13532
https://doi.org/10.1111/cge.13532
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:
Malin Kele, Muhammad Zakaria, Göran Annerén, Mansoureh Shahsavani, Anna Falk, Jan Hoeber, Maria Sobol, Niklas Dahl, Joakim Klar, Jens Schuster, Ambrin Fatima, Loora Laan
Publikováno v:
Clinical Epigenetics
Background Down syndrome (DS) is characterized by neurodevelopmental abnormalities caused by partial or complete trisomy of human chromosome 21 (T21). Analysis of Down syndrome brain specimens has shown global epigenetic and transcriptional changes b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fef917a3c433ae0df893b1a8b53b5a4
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398619
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398619
Autor:
Elisabeth Fernell, Joakim Westerlund, Göran Annerén, Ulrika Wester Oxelgren, Jan Gustafsson, Åsa Myrelid
Publikováno v:
Acta Paediatrica. 108:961-966
We investigated the severities and profiles of intellectual disability (ID) in a population-based group of children with Down syndrome and related the findings to coexisting autism spectrum disorder (ASD) and attention deficit hyperactivity disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258d36b28e8f7ec4a28b04159e1e8acb
https://doi.org/10.1111/apa.14624
https://doi.org/10.1111/apa.14624
Autor:
Inger Nennesmo, Izabela Blaszczyk, Bianca Tesi, Sofia Frisk, Bettina Herm, Ann Nordgren, Fulya Taylan, Göran Annerén, Vasilios Zachariadis, Anna Lindstrand, Eva-Lena Stattin, Tobias Laurell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ec30b9fd736e287eb32cfd29056cab2
https://doi.org/10.1111/cge.13543/v2/response1
https://doi.org/10.1111/cge.13543/v2/response1
Autor:
Ulrika Wester Oxelgren, Göran Annerén, Elisabeth Fernell, Åsa Myrelid, Jan Gustafsson, Marie Åberg, Joakim Westerlund
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992)References. 108(11)
To analyse levels and profiles of autism symptoms in children with Down Syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to specifically study the groups with severe Intellectual Disability (ID).From a population-based coho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843a30011c54875c918d3b623abfa0f9
https://pubmed.ncbi.nlm.nih.gov/31090964
https://pubmed.ncbi.nlm.nih.gov/31090964
Autor:
Gurdip Hulait, Andrea Angius, María Palomares-Bralo, Insa Buers, Ivana Persico, Andrew E. Fry, Eva-Lena Stattin, Manuela Oppo, Giangiorgio Crisponi, Stefano Onano, Francesco Cucca, Göran Annerén, Margot I. Van Allen, Francesco Muntoni, Fernando Santos-Simarro, Frank Rutsch, Gudrun Aubertin, Gianmauro Cuccuru, Paolo Uva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4f636501dd1f1e6cdbdb29405be3239
https://doi.org/10.1111/cge.13532/v2/response1
https://doi.org/10.1111/cge.13532/v2/response1
Autor:
Ulrika, Wester Oxelgren, Joakim, Westerlund, Åsa, Myrelid, Göran, Annerén, Lotta, Johansson, Marie, Åberg, Jan, Gustafsson, Elisabeth, Fernell
Publikováno v:
Neuropsychiatric Disease and Treatment
Purpose To evaluate whether an intervention, targeting deficits in social communication, interaction and restricted activities in children and adolescents with Down syndrome and autism could lead to enhanced participation in family and school activit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19406b1d95795a88062f2c9394fcc3a0
https://pubmed.ncbi.nlm.nih.gov/31410008
https://pubmed.ncbi.nlm.nih.gov/31410008