Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Monika Ringdal"'
Autor:
Alba Kaci, Bente B. Johansson, Linda Jeng, Monika Ringdal, Pål R. Njølstad, Janne Molnes, Haichen Zhang, Kristin A. Maloney, Jeffrey W. Kleinberger, Aishwarya Pavithram, Toni I. Pollin, Jørn V. Sagen
Publikováno v:
Diabetes. 69
Genetic variants in HNF1B encoding the transcription factor hepatocyte nuclear factor-1 beta (HNF-1B) cause Maturity-Onset Diabetes of the Young type 5 (MODY5; HNF1B-MODY) and are the most common known monogenic cause of developmental kidney disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f6f66880119085fcd204d42feac435
https://doi.org/10.2337/db20-1638-p
https://doi.org/10.2337/db20-1638-p
Autor:
Felix Laemmerhirt, Anders Molven, Bente B. Johansson, Janniche Torsvik, Monica Dalva, Monika Ringdal, Karianne Fjeld, Stefan Johansson, Solrun J. Steine, Frank Ulrich Weiss, Dag Hoem, Heike Immervoll, Peter Simon, Markus M. Lerch, Khadija El Jellas, Pål R. Njølstad
Publikováno v:
Pancreatology. 17:83-88
Background/Objectives We have recently described copy number variants (CNVs) of the human carboxyl-ester lipase ( CEL) gene, including a recombined deletion allele ( CEL-HYB ) that is a genetic risk factor for chronic pancreatitis. Associations with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60c531b3ef49b90468102e32dd81359
https://doi.org/10.1016/j.pan.2016.10.006
https://doi.org/10.1016/j.pan.2016.10.006
Autor:
Bente B. Johansson, Claudia Ruffert, Erling Tjora, Jonas Rosendahl, Markus Scholz, Matthias Sendler, Holger Kirsten, Pål R. Njølstad, Markus M. Lerch, Claude Férec, Frank Ulrich Weiss, Denise Lasher, Emmanuelle Masson, Hans-Ulrich Schulz, Miriam Cnop, Robert Grützmann, Peter Bugert, Karianne Fjeld, Monika Ringdal, Peter Simon, Anders Molven, Julia Mayerle, Paweł Sztromwasser, Stefan Johansson, Janniche Torsvik, Jian-Min Chen, Solrun J. Steine, Heiko Witt, Joachim Mössner
Publikováno v:
Nature genetics, 47
Nature genetics
Nature genetics
Carboxyl ester lipase is a digestive pancreatic enzyme encoded by the CEL gene. Mutations in CEL cause maturity-onset diabetes of the young as well as pancreatic exocrine dysfunction. Here we describe a hybrid allele (CEL-HYB) originating from a cros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe84d31783476e007df8702d5ea83e47
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/196323
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/196323
Autor:
Geir Joner, Anders Molven, Torild Skrivarhaug, Pål R. Njølstad, Henrik Irgens, Oddmund Søvik, Janne Molnes, Monika Ringdal, Bente B. Johansson, Dag E. Undlien
Publikováno v:
Diabetologia
Monogenic diabetes (MD) might be misdiagnosed as type 1 diabetes. The prevalence of MD among children with apparent type 1 diabetes has not been established. Our aim was to estimate the prevalence of common forms of MD in childhood diabetes.We invest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83e4457ea654790eb8737400642f744
Autor:
Khadija El Jellas, Bente B. Johansson, Monica Dalva, Heike Immervoll, Markus M. Lerch, Solrun J. Steine, Dag Hoem, Felix Laemmerhirt, Anders Molven, Frank Ulrich Weiss, Stefan Johansson, Peter Simon, Pål R. Njølstad, Janniche Torsvik, Karianne Fjeld, Monika Ringdal
Publikováno v:
Pancreatology. 16:S62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b036d6f0382b25edc6a2e571aa886a
https://doi.org/10.1016/j.pan.2016.05.212
https://doi.org/10.1016/j.pan.2016.05.212