Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis

Autor: Henkjan J. Verkade, Cleo C. van Diemen, Sjoukje-Marije Haisma, Obbe F. Norbruis, Barbara A. E. de Koning, Rinse K. Weersma, Bart G. P. Koot, Jukka Koskela, Marijn C. Visschedijk, Christine Stevens, Manuel A. Rivas, Tim G. J. de Meij, Ruggero Barbieri, Eleonora A. M. Festen, Mark J. Daly, Victorien M. Wolters, Patrick F. van Rheenen, Maria E. Joosse, Ramnik J. Xavier, Dianne Jansen

Publikováno v: Liver International. Wiley
Liver international, 41(5), 1044-1057. Wiley-Blackwell
Liver International, 41(5), 1044-1057. Wiley-Blackwell Publishing Ltd
Haisma, S-M, Weersma, R K, Joosse, M E, de Koning, B A E, de Meij, T, Koot, B G P, Wolters, V, Norbruis, O, Daly, M J, Stevens, C, Xavier, R J, Koskela, J, Rivas, M A, Visschedijk, M C, Verkade, H J, Barbieri, R, Jansen, D B H, Festen, E A M, van Rheenen, P F & van Diemen, C C 2021, ' Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis ', Liver International, vol. 41, no. 5, pp. 1044-1057 . https://doi.org/10.1111/liv.14831
Liver International
Liver International, 41(5), 1044-1057. Wiley-Blackwell

BACKGROUND & AIMS: Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole-exome sequencing (WES) has contributed to understanding the molecular basis of very early-onset IBD,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e15a5798fae6fd996d88d4f01b0b0a
https://research.rug.nl/en/publications/b71feb2a-c6ae-4606-b1b4-5a2d03b6fdb0

Head-to-head comparison of three stool calprotectin tests for home use

Autor: Anneke C. Muller Kobold, Shatha Almahwzi, Patrick F. van Rheenen, Sjoukje-Marije Haisma, Anne Galaurchi, Joy A. Adekanmi Balogun

Publikováno v: PLoS ONE, Vol 14, Iss 4, p e0214751 (2019)
PLoS ONE, 14(4):0214751. PUBLIC LIBRARY SCIENCE

ObjectiveTreatment decisions in inflammatory bowel diseases are increasingly based on longitudinal tracking of calprotectin results. Many hospital laboratories measure calprotectin levels in sent-in stool samples with an enzyme-linked immunosorbent a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4ad24b01c9693f96d573fa9dc70086
https://hdl.handle.net/11370/a2875041-4f4a-453d-90e6-46d3b2368b82

Methotrexate for Maintaining Remission in Paediatric Crohn's Patients with Prior Failure or Intolerance to Thiopurines: A Multicenter Cohort Study

Autor: M. Luisa Mearin, Elvira K. George, Thalia Hummel, Tim G. J. de Meij, Thijs Lijftogt, Johanna C. Escher, Angelika Kindermann, Gerard M. Damen, Sjoukje-Marije Haisma, Lissy de Ridder, Obbe F. Norbruis, Patrick F. van Rheenen, Daniëlle Hendriks

Publikováno v: Journal of Crohn's and Colitis, 9(4), 305-311. Oxford University Press
Journal of Crohn s & colitis, 9(4), 305-311. Elsevier
Haisma, S M, Lijftogt, T, Kindermann, A, Damen, G, de Ridder, L, Escher, J C, Mearin, M L, de Meij, T G J, Hendriks, D, George, E, Hummel, T, Norbruis, O & van Rheenen, P 2015, ' Methotrexate for Maintaining Remission in Paediatric Crohn's Patients with Prior Failure or Intolerance to Thiopurines: A Multicenter Cohort Study ', Journal of Crohn's and Colitis, vol. 9, no. 4, pp. 305-311 . https://doi.org/10.1093/ecco-jcc/jjv031
Journal of Crohn's and Colitis, 9(4), 305-311
Journal of Crohn's and Colitis, 9(4), 305-311. Elsevier

Background and aims: Methotrexate [MTX] is an immunomodulating drug that can be used to maintain remission in patients with Crohn's disease [CD], but data on efficacy and tolerability in children and teenagers are scarce. We evaluated the long-term e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91df35adf8d0d73a7e142354cbed596
https://doi.org/10.1093/ecco-jcc/jjv031

P819 Whole-exome sequencing in early-onset primary sclerosing cholangitis: first results of the WHELP study

Autor: Obbe F. Norbruis, T. G. J. de Meij, Victorien M. Wolters, Ruggero Barbieri, Maria E. Joosse, Henkjan J. Verkade, Ramnik J. Xavier, Christine Stevens, Rinse K. Weersma, Sjoukje-Marije Haisma, N. Festen, B.A.E. De Koning, Mark J. Daly, Manuel A. Rivas, Desiree F. Jansen, Bart G. P. Koot, Marijn C. Visschedijk, C. C. van Diemen

Publikováno v: Journal of Crohn's and Colitis. 13:S532-S532

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f30a4cc5a83cf7bdf118db666ccc590
https://doi.org/10.1093/ecco-jcc/jjy222.943

P-017: Methotrexate after thiopurine therapy in children with Crohn’s disease: a multicenter cohort study

Autor: Obbe F. Norbruis, T. G. J. de Meij, L. de Ridder, Sjoukje-Marije Haisma, Thalia Hummel, T. Lijftogt, Daniëlle Hendriks, P. van Rheenen, Gerard M. Damen, Luisa Mearin, Angelika Kindermann, A. van der Does-van den Berg, Elvira K. George, Johanna C. Escher

Publikováno v: Journal of Crohn's and Colitis. 8:S400-S401

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e11607564fd8aa06180b96292ebdaf5e
https://doi.org/10.1016/s1873-9946(14)50027-x