Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Lymphatic Malformations[original query] |
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TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. International journal of molecular sciences 2020 9 21 (18): . Michelini Sandro, Ricci Maurizio, Veselenyiova Dominika, Kenanoglu Sercan, Kurti Danjela, Baglivo Mirko, Fiorentino Alessandro, Basha Syed Hussain, Priya Sasi, Serrani Roberta, Krajcovic Juraj, Dundar Munis, Dautaj Astrit, Bertelli Matt |
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes. International journal of genomics 2020 2020 3781791. Ricci Maurizio, Compagna Rita, Amato Bruno, Kenanoglu Sercan, Veselenyiova Dominika, Kurti Danjela, Baglivo Mirko, Basha Syed Hussain, Serrani Roberta, Miggiano Giacinto Abele Donato, Aquilanti Barbara, Matera Giuseppina, Marceddu Giuseppe, Velluti Valeria, Gagliardi Lucilla, Dundar Munis, Krajcovic Juraj, Bertelli Matt |
Rare PECAM1 variants in three families with lymphedema. Lymphology 2020 12 53 (3): 141-151. Michelini S, Amato B, Kenanoglu S, Veselenyiova D, Dautaj A, Kurti D, Baglivo M, Dundar M, Krajcovic J, Miggiano G Ad, Aquilanti B, Matera G, Velluti V, Gagliardi L, Basha S H, Bertelli |
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations. Orphanet journal of rare diseases 2021 6 16 (1): 267. Brouillard Pascal, Schlögel Matthieu J, Homayun Sepehr Nassim, Helaers Raphaël, Queisser Angela, Fastré Elodie, Boutry Simon, Schmitz Sandra, Clapuyt Philippe, Hammer Frank, Dompmartin Anne, Weitz-Tuoretmaa Annamaria, Laranne Jussi, Pasquesoone Louise, Vilain Catheline, Boon Laurence M, Vikkula Miik |
CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema. Lymphatic research and biology 2021 12 20 (5): 496-506. Michelini Sandro, Ricci Maurizio, Amato Bruno, Gentileschi Stefano, Veselenyiova Dominika, Kenanoglu Sercan, Fiorentino Alessandro, Kurti Danjela, Baglivo Mirko, Manara Elena, Basha Syed Hussain, Priya Sasi, Krajcovic Juraj, Dundar Munis, Belgrado Jean Paul, Dautaj Astrit, Bertelli Matt |
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations. Journal of human genetics 2022 9 67 (12): 721-728. Nozawa Akifumi, Fujino Akihiro, Yuzuriha Shunsuke, Suenobu Souichi, Kato Aiko, Shimizu Fumiaki, Aramaki-Hattori Noriko, Kuniyeda Kanako, Sakaguchi Kazuya, Ohnishi Hidenori, Aoki Yoko, Ozeki Mich |
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