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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 31, 2023. (Total: 217454Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Mastocytosis and TPSAB1[original query]
Heritable risk for severe anaphylaxis associated with increased ?-tryptase-encoding germline copy number at TPSAB1.
The Journal of allergy and clinical immunology 2020 7 147 (2): 622-632.
Lyons Jonathan J, Chovanec Jack, O'Connell Michael P, Liu Yihui, Šelb Julij, Zanotti Roberta, Bai Yun, Kim Jiwon, Le Quang T, DiMaggio Tom, Schwartz Lawrence B, Komarow Hirsh D, Rijavec Matija, Carter Melody C, Milner Joshua D, Bonadonna Patrizia, Metcalfe Dean D, Korošec Pet
Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology.
The Journal of allergy and clinical immunology 2020 11 147 (4): 1497-1501.e1.
Giannetti Matthew P, Akin Cem, Hufdhi Raied, Hamilton Matthew J, Weller Emily, van Anrooij Bjorn, Lyons Jonathan J, Hornick Jason L, Pinkus Geraldine, Castells Mariana, Pozdnyakova Ol
Routine KIT p.D816V screening identifies clonal mast cell disease in patients with Hymenoptera allergy regularly missed using baseline tryptase levels alone.
The Journal of allergy and clinical immunology 2021 Mar .
Šelb Julij, Rijavec Matija, Eržen Renato, Zidarn Mihaela, Kopa? Peter, Škerget Matevž, Bajrovi? Nissera, Luzar Ajda Demšar, Park Young Hwan, Liu Yihui, Šerbec Vladka ?urin, Zver Samo, Košnik Mitja, Lyons Jonathan J, Korošec Pet
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. GWAS Catalog
American journal of human genetics 2021 Jan .
Galatà Gabriella, García-Montero Andrés C, Kristensen Thomas, Dawoud Ahmed A Z, Muñoz-González Javier I, Meggendorfer Manja, Guglielmelli Paola, Hoade Yvette, Alvarez-Twose Ivan, Gieger Christian, Strauch Konstantin, Ferrucci Luigi, Tanaka Toshiko, Bandinelli Stefania, Schnurr Theresia M, Haferlach Torsten, Broesby-Olsen Sigurd, Vestergaard Hanne, Møller Michael Boe, Bindslev-Jensen Carsten, Vannucchi Alessandro M, Orfao Alberto, Radia Deepti, Reiter Andreas, Chase Andrew J, Cross Nicholas C P, Tapper William
Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.
International journal of molecular sciences 2021 1 22 (1): .
Nedoszytko Boguslaw, Arock Michel, Lyons Jonathan J, Bachelot Guillaume, Schwartz Lawrence B, Reiter Andreas, Jawhar Mohamad, Schwaab Juliana, Lange Magdalena, Greiner Georg, Hoermann Gregor, Niedoszytko Marek, Metcalfe Dean D, Valent Pet
Disease correlates and clinical relevance of hereditary ?-tryptasemia in patients with systemic mastocytosis.
The Journal of allergy and clinical immunology 2022 10 151 (2): 485-493.e11.
Sordi Benedetta, Vanderwert Fiorenza, Crupi Francesca, Gesullo Francesca, Zanotti Roberta, Bonadonna Patrizia, Crosera Lara, Elena Chiara, Fiorelli Nicolas, Ferrari Jacqueline, Grifoni Federica, Sciumè Mariarita, Parente Roberta, Triggiani Massimo, Palterer Boaz, Mecheri Valentina, Almerigogna Fabio, Santi Raffaella, Di Medio Lisa, Brandi Maria Luisa, Iorno Maria Loredana, Ciardetti Isabella, Bencini Sara, Annunziato Francesco, Mannarelli Carmela, Pieri Lisa, Guglielmelli Paola, Mannelli Francesco, Vannucchi Alessandro
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