Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Autor: Maurizio Genuardi, Robert Blatter, Benjamin Tschupp, Hans F. A. Vasen, Karl Heinimann, Fiona Lalloo, Gabriela Moeslein, D. Gareth Evans, Robert Hüneburg, Frederik J. Hes, Laura Renkonen-Sinisalo, Inge Bernstein, Stefan Aretz, Chrystelle Colas, Isabel Spier, Andrew Latchford, Nicoletta Resta, Heikki Järvinen, Dora Varvara

Publikováno v: Genetics in Medicine
Genetics in Medicine, 22(9), 1524-1532. NATURE PUBLISHING GROUP
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-020-0826-1⟩
Blatter, R, Tschupp, B, Aretz, S, Bernstein, I, Colas, C, Evans, D G, Genuardi, M, Hes, F J, Hüneburg, R, Järvinen, H, Lalloo, F, Moeslein, G, Renkonen-Sinisalo, L, Resta, N, Spier, I, Varvara, D, Vasen, H, Latchford, A R & Heinimann, K 2020, ' Disease expression in juvenile polyposis syndrome : a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers ', Genetics in Medicine, vol. 22, no. 9, pp. 1524-1532 . https://doi.org/10.1038/s41436-020-0826-1

International audience; Purpose: Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic germline variants in SMAD4 and BMPR1A. We aimed to gather detailed c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f257176c70f67a4998111bb1dbb34b
http://europepmc.org/articles/PMC7462743

The mtDNA D-Loop Legacy of Cattle: Fluctuations in Diversity from the Neolithic to Early Medieval Times in Switzerland

Autor: José Granado, Elizabeth Wright, Robert Blatter, Jürg Lange, Meral Turgay, Laura Bañuelos, Sabine Deschler-Erb, Barbara Stopp, Elisabeth Marti-Grädel, Marguerita Schäfer, Idoia Grau-Sologestoa, Sandra Ammann, Debora Schmid, Alex R. Furger, Reto Marti, Jörg Schibler, Angela Schlumbaum

Publikováno v: Diversity; Volume 15; Issue 5; Pages: 687

Fluctuations in the size of taurine cattle (Bos taurus) have been regularly demonstrated using archaeozoological data from across time and space in Europe, and have been linked to cultural, social and economic changes, but little is known about wheth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bee8f099cd43a2bde76c0d0f7a538be