Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Henrik Irgens"'
Autor:
Stefan Johansson, Henrik Irgens, Kishan K Chudasama, Janne Molnes, Jan Aerts, Francisco S Roque, Inge Jonassen, Shawn Levy, Kari Lima, Per M Knappskog, Graeme I Bell, Anders Molven, Pål R Njølstad
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e38050 (2012)
Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics
Externí odkaz:
https://doaj.org/article/dc866974a1f040918ed90d64ab6093ca
Autor:
Jarle R. Fehn, Pål R. Njølstad, Silje Katrine Elgen Fevang, Irene Bircow Elgen, Pernille Svalastoga, Henrik Irgens, Eivind Valen, Stein Magnus Aukland, Eivind Sirnes, Åsta Sulen
Publikováno v:
Diabetes Care. 43:526-533
OBJECTIVE Neonatal diabetes has been shown to be associated with high neuropsychiatric morbidity in a genotype-phenotype–dependent manner. However, the specific impact of different mutations on intellectual functioning is still insufficiently chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a83cbe90b545630f75e2b7289a0aa049
https://doi.org/10.2337/dc19-1013
https://doi.org/10.2337/dc19-1013
Autor:
Henrik Irgens, Petur Benedikt Juliusson, Janne Molnes, Ingvild Aukrust, Geir Joner, Torild Skrivarhaug, Bente B. Johansson, Shawn Levy, Paweł Sztromwasser, Pål R. Njølstad, Stefan Johansson, Oddmund Søvik, Anders Molven
Publikováno v:
Diabetologia. 60:625-635
MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. Using next-generation sequencing, we screened the HNF1A, HNF4A, HNF1B, GCK and INS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc52599949069f72ac29a33c6fb532d9
https://doi.org/10.1007/s00125-016-4167-1
https://doi.org/10.1007/s00125-016-4167-1
Autor:
Pernille, Svalastoga, Åsta, Sulen, Jarle R, Fehn, Stein M, Aukland, Henrik, Irgens, Eivind, Sirnes, Silje K E, Fevang, Eivind, Valen, Irene B, Elgen, Pål R, Njølstad
Publikováno v:
Diabetes care. 43(3)
Neonatal diabetes has been shown to be associated with high neuropsychiatric morbidity in a genotype-phenotype-dependent manner. However, the specific impact of different mutations on intellectual functioning is still insufficiently characterized. Sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c96425ac7a7d59f8abec0244e490aa6c
https://pubmed.ncbi.nlm.nih.gov/31932458
https://pubmed.ncbi.nlm.nih.gov/31932458
Autor:
Tim Rolph, Christopher Newton-Cheh, Jeff K. Trimmer, Ervin R. Fox, Jose C. Florez, Joel N. Hirschhorn, Leif Groop, Anders Molven, Christine E. Seidman, David R. Cox, Henrik Irgens, Pål R. Njølstad, Stacey Gabriel, Nicola L. Beer, Sekar Kathiresan, Christopher J. O'Donnell, James G. Wilson, Alexander G. Bick, Vineeta Agarwala, James B. Meigs, Stefan Johansson, Frank Burslem, M. Julia Brosnan, Herman A. Taylor, Namrata Gupta, David Altshuler, Valeriya Lyssenko, Noël P. Burtt, Janne Molnes, Tiinamaija Tuomi, Jason Flannick, Jonathan G. Seidman
Publikováno v:
Nature Genetics
Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders1–7 – and who consequently may have increased disease risk. However, previous studies of rare variants in phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb64cefb4136339f9ef4387b56d8574
Autor:
Helge Ræder, Janne Molnes, Anders Molveng, Pål R. Njølstad, Oddmund Søvika, Henrik Irgens, Jørn V. Sagena, Lise Bjørkhaug
Publikováno v:
Norsk Epidemiologi, Vol 23, Iss 1 (2013)
Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8783fbf42523f1bcce3de89b98c9e27a
https://doi.org/10.5324/nje.v23i1.1603
https://doi.org/10.5324/nje.v23i1.1603
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