Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jasper Van der Smagt"'
Autor:
Jean-Yves Picard, Gilles Morin, Mojgan Devouassoux-Shisheboran, Jasper Van der Smagt, Serge Klosowski, Catherine Pienkowski, Peggy Pierre-Renoult, Cécile Masson, Christine Bole, Nathalie Josso
Publikováno v:
Human reproduction (Oxford, England). 37(12)
STUDY QUESTION Can mutations of genes other than AMH or AMHR2, namely PPP1R12A coding myosin phosphatase, lead to persistent Müllerian duct syndrome (PMDS)? SUMMARY ANSWER The detection of PPP1R12A truncation mutations in five cases of PMDS suggests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0cd48087dbf62d761945897e62e40bb
https://pubmed.ncbi.nlm.nih.gov/36331510
https://pubmed.ncbi.nlm.nih.gov/36331510
Autor:
Raphael Borie, Caroline Kannengiesser, Katerina Antoniou, Francesco Bonella, Bruno Crestani, Aurélie Fabre, Antoine Froidure, Liam Galvin, Matthias Griese, Jan C. Grutters, Maria Molina-Molina, Venerino Poletti, Antje Prasse, Elisabetta Renzoni, Jasper van der Smagt, Coline H.M. van Moorsel
Publikováno v:
The European respiratory journal, Vol. 61, no.3, p. 1-24 (2023)
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial pulmonary fibrosis (FPF) cases is embedded in routine clinical practice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::140b8b4ac8f44862e33ce4932e5cfa71
https://doi.org/10.1183/13993003.01383-2022
https://doi.org/10.1183/13993003.01383-2022
Autor:
Joseph Kelich, Tomas Aramburu, Joanne J. van der Vis, Louise Showe, Andrew Kossenkov, Jasper van der Smagt, Maarten Massink, Angela Schoemaker, Eric Hennekam, Marcel Veltkamp, Coline H.M. van Moorsel, Emmanuel Skordalakes
Publikováno v:
The Journal of experimental medicine. 219(5)
Exonic sequencing identified a family with idiopathic pulmonary fibrosis (IPF) containing a previously unreported heterozygous mutation in POT1 p.(L259S). The family displays short telomeres and genetic anticipation. We found that POT1(L259S) is defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9ef2aea75e026cba0e2dce60029d04
https://pubmed.ncbi.nlm.nih.gov/35420632
https://pubmed.ncbi.nlm.nih.gov/35420632
Autor:
Magdalena, Harakalova, Gijs, Kummeling, Arjan, Sammani, Marijke, Linschoten, Annette F, Baas, Jasper, van der Smagt, Pieter A, Doevendans, J Peter, van Tintelen, Dennis, Dooijes, Michal, Mokry, Folkert W, Asselbergs
Publikováno v:
European journal of heart failure. 17(5)
Despite considerable progress being made in genetic diagnostics for dilated cardiomyopathy (DCM) using panels of the most prevalent genes, the cause remains unsolved in a substantial percentage of patients. We hypothesize that several previously desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e6af28d0b6507cba465f04ebfc3f5dbf
https://pubmed.ncbi.nlm.nih.gov/25728127
https://pubmed.ncbi.nlm.nih.gov/25728127