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Janne Molnes
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Meeting Abstracts

1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine

BENTE B. JOHANSSON, AISHWARYA PAVITHRAM, HAICHEN ZHANG, KRISTIN A. MALONEY, MONIKA RINGDAL, ALBA KACI, JORN V. SAGEN, JEFFREY KLEINBERGER, LINDA JENG, PÅL RASMUS NJØLSTAD, TONI I. POLLIN, JANNE MOLNES
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1638-P
https://doi.org/10.2337/db20-1638-P
Published: 01 June 2020
View articletitled, 1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine
Meeting Abstracts

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

HAICHEN ZHANG, KRISTIN A. MALONEY, FABRIZIO BARBETTI, SIRI ATMA W. GREELEY, JARNO L.T. KETTUNEN, JOSÉ P. MIRANDA, UYENLINH L. MIRSHAHI, JANNE MOLNES, RINKI MURPHY, ROCHELLE N. NAYLOR, RUTH E. PAKYZ, LOUIS H. PHILIPSON, SABRINA PRUDENTE, TIINAMAIJA TUOMI, MIRIAM UDLER, KEVIN COLCLOUGH, LINDA JENG, TONI I. POLLIN
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1453-P
https://doi.org/10.2337/db20-1453-P
Published: 01 June 2020
View articletitled, 1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
Meeting Abstracts

246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY

MARIE H. SOLHEIM, MOJDEH NASROLLAHZADEH KHAKIANI, JANNE MOLNES, INGVILD AUKRUST, PåL RASMUS NJøLSTAD, STEFAN JOHANSSON
Journal: Diabetes
Diabetes 2019;68(Supplement_1):246-LB
https://doi.org/10.2337/db19-246-LB
Published: 01 June 2019
View articletitled, 246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY
Journal Articles

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Laeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noel Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål Rasmus Njølstad
Journal: Diabetes
Diabetes 2017;66(2):335–346
https://doi.org/10.2337/db16-0460
Published: 29 November 2016
View articletitled, Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population
Open the PDF for Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population in another window
Includes: Supplementary data
Journal Articles

Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy

Jørn V. Sagen, Helge Ræder, Eba Hathout, Naim Shehadeh, Kolbeinn Gudmundsson, Halvor Bævre, Dianne Abuelo, Chanika Phornphutkul, Janne Molnes, Graeme I. Bell, Anna L. Gloyn, Andrew T. Hattersley, Anders Molven, Oddmund Søvik, Pål R. Njølstad
Journal: Diabetes
Diabetes 2004;53(10):2713–2718
https://doi.org/10.2337/diabetes.53.10.2713
Published: 01 October 2004
View articletitled, Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy
Open the PDF for Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy in another window
Includes: Supplementary data
Journal Articles

Permanent Neonatal Diabetes Caused by Glucokinase Deficiency: Inborn Error of the Glucose-Insulin Signaling Pathway

Pål R. Njølstad, Jørn V. Sagen, Lise Bjørkhaug, Stella Odili, Naim Shehadeh, Doua Bakry, S. Umit Sarici, Faruk Alpay, Janne Molnes, Anders Molven, Oddmund Søvik, Franz M. Matschinsky
Journal: Diabetes
Diabetes 2003;52(11):2854–2860
https://doi.org/10.2337/diabetes.52.11.2854
Published: 01 November 2003
View articletitled, Permanent Neonatal Diabetes Caused by Glucokinase Deficiency: Inborn Error of the Glucose-Insulin Signaling Pathway
Open the PDF for Permanent Neonatal Diabetes Caused by Glucokinase Deficiency: Inborn Error of the Glucose-Insulin Signaling Pathway in another window