Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Vascular Malformations and PIK3CA[original query] |
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Mouse Models for Exploring the Biological Consequences and Clinical Significance of PIK3CA Mutations. Biomolecules 2019 4 9 (4): . Mitchell Camilla B, Phillips Wayne |
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases. Genes, chromosomes & cancer 2019 1 58 (8): 541-550. Ten Broek Roel W, Eijkelenboom Astrid, van der Vleuten Carine J M, Kamping Eveline J, Kets Marleen, Verhoeven Bas H, Grünberg Katrien, Schultze Kool Leo J, Tops Bastiaan B J, Ligtenberg Marjolijn J L, Flucke U |
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations. Journal of clinical medicine 2020 10 9 (11): . Paolacci Stefano, Mattassi Raul Ettore, Marceddu Giuseppe, Manara Elena, Zulian Alessandra, Guerri Giulia, De Antoni Luca, Arduino Carlo, Cavalca Daniela, Bertelli Matt |
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 |
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 |
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics 2022 3 60 (2): 163-173. Mussa Alessandro, Leoni Chiara, Iacoviello Matteo, Carli Diana, Ranieri Carlotta, Pantaleo Antonino, Buonuomo Paola Sabrina, Bagnulo Rosanna, Ferrero Giovanni Battista, Bartuli Andrea, Melis Daniela, Maitz Silvia, Loconte Daria Carmela, Turchiano Antonella, Piglionica Marilidia, De Luisi Annunziata, Susca Francesco Claudio, Bukvic Nenad, Forleo Cinzia, Selicorni Angelo, Zampino Giuseppe, Onesimo Roberta, Cappuccio Gerarda, Garavelli Livia, Novelli Chiara, Memo Luigi, Morando Carla, Della Monica Matteo, Accadia Maria, Capurso Martina, Piscopo Carmelo, Cereda Anna, Di Giacomo Marilena Carmela, Saletti Veronica, Spinelli Alessandro Mauro, Lastella Patrizia, Tenconi Romano, Dvorakova Veronika, Irvine Alan D, Resta Nicolet |
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Orphanet journal of rare diseases 2023 9 18 (1): 261. Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin |
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