Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Izabella Baranowska Körberg"'
Autor:
Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis
Publikováno v:
PLoS ONE, Vol 17, Iss 2 (2022)
Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with B
Externí odkaz:
https://doaj.org/article/3b5909c710a74adc9dfc88517ffddffa
Autor:
Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought
Externí odkaz:
https://doaj.org/article/b1a8ced4172c406cb13c4b3a7225eb0e
Autor:
Izabella Baranowska Körberg, Elisabeth Sundström, Jennifer R S Meadows, Gerli Rosengren Pielberg, Ulla Gustafson, Åke Hedhammar, Elinor K Karlsson, Jennifer Seddon, Arne Söderberg, Carles Vilà, Xiaolan Zhang, Mikael Åkesson, Kerstin Lindblad-Toh, Göran Andersson, Leif Andersson
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104363 (2014)
The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting (s(w)). We have investigated fo
Externí odkaz:
https://doaj.org/article/a3343de64bc3464695558e10d5c445d1
Autor:
Eija H Seppälä, Lotta L E Koskinen, Christina H Gulløv, Päivi Jokinen, Peter Karlskov-Mortensen, Luciana Bergamasco, Izabella Baranowska Körberg, Sigitas Cizinauskas, Anita M Oberbauer, Mette Berendt, Merete Fredholm, Hannes Lohi
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33549 (2012)
Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal
Externí odkaz:
https://doaj.org/article/676f96564cee41c5967efadf7ba1d518
Autor:
Izabella Baranowska Körberg, Eva-Lena Stattin, Daniel Nowinski, Malin Melin, Marie-Louise Bondeson, Lars Kölby
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a273069332562456cb0c4982ea22d7a7
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412593
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412593
Autor:
Anna Lindstrand, Gillian Barker, Agneta Nordenskjöld, Magnus Anderberg, Gundela Holmdahl, Jia Cao, Daniel Nilsson, Vladana Vukojević, Izabella Baranowska Körberg, Johanna Lundin, Wolfgang Hofmeister, Ellen Markljung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405979108ee1ea751ad900afaa716380
https://doi.org/10.1002/mgg3.666
https://doi.org/10.1002/mgg3.666
Autor:
Markus Draaken, Daniel Nilsson, Anna Lindstrand, Vladana Vukojević, Izabella Baranowska Körberg, Johanna Lundin, Gundela Holmdahl, Agneta Nordenskjöld, Christina Clementson Kockum, Michael Ludwig, Gillian Barker, Heiko Reutter, Jia Cao, Ellen Markljung, Wolfgang Hofmeister
Publikováno v:
Human Molecular Genetics. 24:5069-5078
Bladder exstrophy, a severe congenital urological malformation when a child is born with an open urinary bladder, is the most common form of bladder exstrophy-epispadias complex (BEEC) with an incidence of 1:30.000 children of Caucasian descent. Rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc95f33353fcb4b8c4ddb8c0f0dad616
https://doi.org/10.1093/hmg/ddv225
https://doi.org/10.1093/hmg/ddv225
Autor:
Jia Cao, Izabella Baranowska Körberg, Anna Skarin Nordenvall, Agneta Nordenskjöld, Ellen Markljung
Publikováno v:
Journal of Medical Genetics and Genomics. 7:1-6
In order to evaluate the use of the BNC2 gene in clinical practice regarding hypospadias, the presence of the impact of mutations in BNC2 gene in males who had been treated surgically for hypospadias in Sweden (N=413) and controls (N=455) were evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::200015178c78ab437e53ce1765abbe69
https://doi.org/10.5897/jmgg2015.0078
https://doi.org/10.5897/jmgg2015.0078
Autor:
Louise Frisén, Ellen Markljung, Jia Cao, Zu Shulu, Cilla Söderhäll, Xufeng Zhang, Loes F.M. van der Zanden, Iris A.L.M. van Rooij, Yougen Chen, Hanh T. T. Thai, Nel Roeleveld, Izabella Baranowska Körberg, Agneta Nordenskjöld, Ingrid Kockum
Publikováno v:
European Journal of Human Genetics, 23, 516-22
European Journal of Human Genetics, 23, 4, pp. 516-22
European Journal of Human Genetics, 23, 4, pp. 516-22
Item does not contain fulltext Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad037de4f83457d8a98633b81a56f95
https://hdl.handle.net/2066/155284
https://hdl.handle.net/2066/155284
Autor:
Martin L. Katz, Gary S. Johnson, Izabella Baranowska Körberg, Eva Murén, Joan R. Coates, Michele Koltookian, Gayle C. Johnson, Kate Megquier, Kerstin Lindblad-Toh, A. Kolicheski, Noriko Tonomura, Sergey V. Kozyrev, Rong Zeng, Liz Hansen, Emma L. Ivansson, Ross Swofford
Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 gene (SOD1) mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0e55fdb192d42b7a4aea6e24fd60d0
https://europepmc.org/articles/PMC4896683/
https://europepmc.org/articles/PMC4896683/