E-LIB Suche - Ergebnisse für: Fjeld, Karianne

1

Common single-base insertions in the VNTR of the carboxyl e..:

Brekke, Ranveig S ; Gravdal, Anny ; El Jellas, Khadija...
Human Molecular Genetics. 33 (2024) 11 - p. 1001-1014 , 2024

Link: https://doi.org/10.1093/..

2

Carboxyl ester lipase (CEL) in pancreatic disease: pathogen..:

Garzón, Miguel Juárez ; El Jellas, Khadija ; Navarsete, Rune H....
Pancreatology. 23 (2023) - p. e2 , 2023

Link: https://doi.org/10.1016/..

3

The CEL gene in chronic pancreatitis: characterisation of a..:

Brekke, Ranveig Seim ; Gravdal, Anny ; Steine, Solrun Johanne...
Pancreatology. 23 (2023) - p. e29 , 2023

Link: https://doi.org/10.1016/..

4

The genetic risk factor CEL-HYB1 causes proteotoxicity and ..:

Fjeld, Karianne ; Gravdal, Anny ; Brekke, Ranveig S....
Pancreatology. 22 (2022) 8 - p. 1099-1111 , 2022

Link: https://doi.org/10.1016/..

5

The position of single-base deletions in the VNTR sequence ..:

Gravdal, Anny ; Xiao, Xunjun ; Cnop, Miriam...
Journal of Biological Chemistry. 296 (2021) - p. 100661 , 2021

Link: https://doi.org/10.1016/..

6

Two New Mutations in the CEL Gene Causing Diabetes and Here..:

El Jellas, Khadija ; Dušátková, Petra ; Haldorsen, Ingfrid S...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 4 - p. e1455-e1466 , 2021

Link: https://doi.org/10.1210/..

7

Single nucleotide polymorphisms inCEL‐HYB1increase risk for..:

Cassidy, Brett M. ; Zino, Sammy ; Fjeld, Karianne...
Human Mutation. 41 (2020) 11 - p. 1967-1978 , 2020

Link: https://doi.org/10.1002/..

8

Characterization of CEL-DUP2: Complete duplication of the c..:

Fjeld, Karianne ; Masson, Emmanuelle ; Lin, Jin-Huan...
Pancreatology. 20 (2020) 3 - p. 377-384 , 2020

Link: https://doi.org/10.1016/..

9

Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact wi..:

Dalva, Monica ; Lavik, Ida K. ; El Jellas, Khadija...
Cells. 9 (2020) 1 - p. 244 , 2020

Link: https://doi.org/10.3390/..

10

Functional evaluation of 16 SCHAD missense variants: Only a..:

Velasco, Kelly ; St‐Louis, Johanna L. ; Hovland, Henrikke N....
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 240-252 , 2020

Link: https://doi.org/10.1002/..

11

First clinical reports on CEL-HYB pancreatitis: Synergism b..:

Tjora, Erling ; Gravdal, Anny ; Engjom, Trond...
Pancreatology. 19 (2019) - p. S134-S135 , 2019

Link: https://doi.org/10.1016/..

12

Single-base deletions in the last exon of the carboxyl este..:

Gravdal, Anny ; Xiao, Xunjun ; Lowe, Mark E....
Pancreatology. 19 (2019) - p. S19 , 2019

Link: https://doi.org/10.1016/..

13

Aberrant N- and O-linked glycosylation in carboxyl ester li..:

El Jellas, Khadija ; Antonopoulos, Aristotelis ; Haslam, Stuart M....
Pancreatology. 19 (2019) - p. S96-S97 , 2019

Link: https://doi.org/10.1016/..

14

The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in ..:

Oracz, Grzegorz ; Kujko, Aleksandra Anna ; Fjeld, Karianne...
Pancreatology. 19 (2019) 4 - p. 531-534 , 2019

Link: https://doi.org/10.1016/..

15

Association between CEL-HYB1 allele and idiopathic/familial..:

Kujko, Aleksandra Anna ; Oracz, Grzegorz ; Fjeld, Karianne...
Pancreatology. 18 (2018) 4 - p. S32 , 2018

Link: https://doi.org/10.1016/..