Zobrazeno 1 - 6
of 6
pro vyhledávání: '"René H. M. te Morsche"'
Publikováno v:
Genes, Vol 14, Iss 9, p 1755 (2023)
α-1,2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess polycystic livers as a common extrarenal manifestation. We performed whole exome sequ
Externí odkaz:
https://doaj.org/article/8c7fed95add843cb8e67fe22737115da
Autor:
Melissa M. Boerrigter, René H. M. te Morsche, Hanka Venselaar, Nikki Pastoors, Anja M. Geerts, Anne Hoorens, Joost P. H. Drenth
Publikováno v:
Genes, Vol 14, Iss 8, p 1652 (2023)
Protein-truncating variants in α-1,3-glucosyltransferase (ALG8) are a risk factor for a mild cystic kidney disease phenotype. The association between these variants and liver cysts is limited. We aim to identify pathogenic ALG8 variants in our cohor
Externí odkaz:
https://doaj.org/article/777193cc9832447997d23b05e15c50ba
Autor:
Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB vari
Externí odkaz:
https://doaj.org/article/c710959f5f25452a936f4f4f95599345
Autor:
Wybrich R, Cnossen, Jake S F, Maurits, Jody, Salomon, René H M, Te Morsche, Esmé, Waanders, Joost P H, Drenth
Publikováno v:
Journal of clinical laboratory analysis. 30(5)
BACKGROUND: Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K‐H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause
Autor:
Peter, Laverman, Willeke A M, Blokx, René H M, Te Morsche, Cathelijne, Frielink, Otto C, Boerman, Wim J G, Oyen, Joost P H, Drenth
Publikováno v:
Hepatology research : the official journal of the Japan Society of Hepatology. 37(2)
The diagnosis of cholangiocarcinoma (CCA) is difficult, and due to the insidious course of the disease, most cases present at a relatively late stage. Positron emission tomography (PET), using [(18)F]fluoro-2-deoxyglucose ([(18)F]FDG) as a tracer is
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e50324 (2012)
Polycystic liver disease (PCLD) is an autosomal dominant disorder characterised by multiple fluid filled cysts in the liver. This rare disease is caused by heterozygous germline mutations in PRKCSH and SEC63. We previously found that, in patients wit
Externí odkaz:
https://doaj.org/article/b719ab17343b49db806f33732a8b8cef