Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Mastocytosis[original query] |
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Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.
International journal of molecular sciences 2020 Jul 21 (15): . Nedoszytko Bogus?aw, Sobalska-Kwapis Marta, Strapagiel Dominik, Lange Magdalena, Górska Aleksandra, Elberink Joanne N G Oude, van Doormaal Jasper, S?omka Marcin, Kalinowski Leszek, Grucha?a-Niedoszytko Marta, Nowicki Roman J, Valent Peter, Niedoszytko Mar |
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 |
Pediatric mastocytosis. Current opinion in pediatrics 2020 7 32 (4): 531-538. Hussain Sadaf |
Importance of Adequate Diagnostic Workup for Correct Diagnosis of Advanced Systemic Mastocytosis. The journal of allergy and clinical immunology. In practice 2020 5 8 (9): 3121-3127.e1. Schwaab Juliana, Cabral do O Hartmann Nicole, Naumann Nicole, Jawhar Mohamad, Weiß Christel, Metzgeroth Georgia, Schmid Alicia, Lübke Johannes, Reiter Lukas, Fabarius Alice, Cross Nicholas C P, Sotlar Karl, Valent Peter, Kluin-Nelemans Hanneke C, Hofmann Wolf-Karsten, Horny Hans-Peter, Panse Jens, Reiter Andre |
Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. Allergy 2020 Feb . Trizuljak Jakub, Sperr Wolfgang R, Nekvindová Lucie, Elberink Hanneke O, Gleixner Karoline V, Gorska Aleksandra, Lange Magdalena, Hartmann Karin, Illerhaus Anja, Bonifacio Massimiliano, Perkins Cecelia, Elena Chiara, Malcovati Luca, Fortina Anna B, Shoumariyeh Khalid, Jawhar Mohamad, Zanotti Roberta, Bonadonna Patrizia, Caroppo Francesca, Zink Alexander, Triggiani Massimo, Parente Roberta, von Bubnoff Nikolas, Yavuz Akif S, Hägglund Hans, Mattsson Mattias, Panse Jens, Jäkel Nadja, Kilbertus Alex, Hermine Olivier, Arock Michel, Fuchs David, Sabato Vito, Brockow Knut, Bretterklieber Agnes, Niedoszytko Marek, van Anrooij Björn, Reiter Andreas, Gotlib Jason, Kluin-Nelemans Hanneke C, Mayer Jiri, Doubek Michael, Valent Pet |
Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild-type KIT patients. The Journal of dermatology 2020 Feb . Arase Noriko, Wataya-Kaneda Mari, Murota Hiroyuki, Nakagawa Yukinobu, Yamaoka Toshifumi, Itoi-Ochi Saori, Hirayasu Kouyuki, Arase Hisashi, Fujimoto Manabu, Katayama Ichi |
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 |
Hereditary alpha tryptasemia is not associated with specific clinical phenotypes. The Journal of allergy and clinical immunology 2021 6 149 (2): 728-735.e2. Chollet Madeleine B, Akin C |
Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 5 35 (10): 2079-2084. Torrelo A, Vergara-de-la-Campa L, Azaña J M, Greenberger S, Lam J M, Lawley L P, Morren M-A, Schaffer J V, García-Doval I, Matito A, Alvarez-Twose |
Diagnosis of Primary Mast Cell Disorders in Anaphylaxis: Value of KIT D816V in Peripheral Blood. The journal of allergy and clinical immunology. In practice 2021 5 9 (8): 3176-3187.e3. De Puysseleyr Leander P, Ebo Didier G, Elst Jessy, Faber Margaretha A, Poorten Marie-Line van der, Van Gasse Athina L, Bridts Chris H, Mertens Christel, Van Houdt Michel, Hagendorens Margo M, Verlinden Anke, Vermeulen Katrien, Maes Marie-Berthe, Berneman Zwi N, Sabato Vi |
Adverse Prognostic Impact of the KIT D816V Transcriptional Activity in Advanced Systemic Mastocytosis. International journal of molecular sciences 2021 4 22 (5): . Naumann Nicole, Lübke Johannes, Baumann Sofie, Schwaab Juliana, Hoffmann Oliver, Kreil Sebastian, Dangelo Vito, Reiter Lukas, Bugert Peter, Kristensen Thomas, Sotlar Karl, Haselmann Verena, Schneider Sven, Metzgeroth Georgia, Weiss Christel, Popp Henning D, Fabarius Alice, Hofmann Wolf-Karsten, Cross Nicholas C P, Reiter Andreas, Jawhar Moham |
Vascular endothelial growth factors and angiopoietins as new players in mastocytosis. Clinical and experimental medicine 2021 3 21 (3): 415-427. Marcella Simone, Petraroli Angelica, Braile Mariantonia, Parente Roberta, Ferrara Anne Lise, Galdiero Maria Rosaria, Modestino Luca, Cristinziano Leonardo, Rossi Francesca Wanda, Varricchi Gilda, Triggiani Massimo, de Paulis Amato, Spadaro Giuseppe, Loffredo Stefan |
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.
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 |
Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis. Theranostics 2021 1 11 (1): 292-303. Kluin-Nelemans Hanneke C, Jawhar Mohamad, Reiter Andreas, van Anrooij Bjorn, Gotlib Jason, Hartmann Karin, Illerhaus Anja, Oude Elberink Hanneke N G, Gorska Aleksandra, Niedoszytko Marek, Lange Magdalena, Scaffidi Luigi, Zanotti Roberta, Bonadonna Patrizia, Perkins Cecelia, Elena Chiara, Malcovati Luca, Shoumariyeh Khalid, von Bubnoff Nikolas, Müller Sabine, Triggiani Massimo, Parente Roberta, Schwaab Juliana, Kundi Michael, Fortina Anna Belloni, Caroppo Francesca, Brockow Knut, Zink Alexander, Fuchs David, Angelova-Fischer Irena, Yavuz Akif Selim, Doubek Michael, Mattsson Mattias, Hagglund Hans, Panse Jens, Simonowski Anne, Sabato Vito, Schug Tanja, Jentzsch Madlen, Breynaert Christine, Várkonyi Judit, Kennedy Vanessa, Hermine Olivier, Rossignol Julien, Arock Michel, Valent Peter, Sperr Wolfgang |
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis. Cancers 2022 5 14 (10): . González-López Oscar, Muñoz-González Javier I, Orfao Alberto, Álvarez-Twose Iván, García-Montero Andrés |
-2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis. Postepy dermatologii i alergologii 2021 Dec 38 (6): 1039-1043. ?ugowska-Umer Hanna, Zab?otna Monika, Lange Magdalena, Niedoszytko Marek, Nowicki Roman J, Nedoszytko Bogus? |
Midostaurin therapy for advanced systemic mastocytosis: Mayo Clinic experience in 33 consecutive cases. American journal of hematology 2022 2 97 (5): 630-637. Singh Amritpal, Al-Kali Aref, Begna Kebede H, Litzow Mark R, Larsen Jeremy T, Sher Taimur, Abdelmagid Maymona G, Farrukh Faiqa, Reichard Kaaren K, Gangat Naseema, Pardanani Animesh, Tefferi Ayal |
Lab tests for MPN. International review of cell and molecular biology 2022 2 366 187-220. Moncada Alice, Pancrazzi Alessand |
Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis. The journal of allergy and clinical immunology. In practice 2022 11 11 (2): 581-590.e5. Lübke Johannes, Schwaab Juliana, Christen Deborah, Elberink Hanneke Oude, Span Bart, Niedoszytko Marek, Gorska Aleksandra, Lange Magdalena, Gleixner Karoline V, Hadzijusufovic Emir, Solomianyi Oleksii, Angelova-Fischer Irena, Zanotti Roberta, Bonifacio Massimiliano, Bonadonna Patrizia, Shoumariyeh Khalid, von Bubnoff Nikolas, Müller Sabine, Perkins Cecelia, Elena Chiara, Malcovati Luca, Hagglund Hans, Mattsson Mattias, Parente Roberta, Varkonyi Judit, Fortina Anna Belloni, Caroppo Francesca, Zink Alexander, Brockow Knut, Breynaert Christine, Bullens Dominique, Yavuz Akif Selim, Doubek Michael, Sabato Vito, Schug Tanja, Niederwieser Dietger, Hartmann Karin, Triggiani Massimo, Gotlib Jason, Hermine Olivier, Arock Michel, Kluin-Nelemans Hanneke C, Panse Jens, Sperr Wolfgang R, Valent Peter, Reiter Andreas, Jawhar Moham |
KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes. Allergy 2022 11 . Navarro-Navarro Paula, Álvarez-Twose Iván, Pérez-Pons Alba, Henriques Ana, Mayado Andrea, García-Montero Andrés C, Sánchez-Muñoz Laura, González-López Oscar, Matito Almudena, Caldas Carolina, Jara-Acevedo María, Orfao Alber |
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 |
Elevated Basal Serum Tryptase: Disease Distribution and Variability in a Regional Health System. The journal of allergy and clinical immunology. In practice 2022 1 10 (9): 2424-2435.e5. Waters Aubri M, Park Hyun J, Weskamp Andrew L, Mateja Allyson, Kachur Megan E, Lyons Jonathan J, Rosen Benjamin J, Boggs Nathan |
Severe food allergy reactions are associated with ?-tryptase. The Journal of allergy and clinical immunology 2023 8 . Abigail Lang, Stephanie Kubala, Megan C Grieco, Allyson Mateja, Jacqueline Pongracic, Yihui Liu, Pamela A Frischmeyer-Guerrerio, Rajesh Kumar, Jonathan J Lyo |
An elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes: pathophysiological implications. The Journal of allergy and clinical immunology 2023 8 . Laura Polivka, Marine Madrange, Cristina Bulai-Livideanu, Stephane Barete, Thomas Ballul, Antoine Neuraz, Celine Greco, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Charles Burdet, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Clément Gourguechon, Ghandi Damaj, Laurent Frenzel, Cecile Meni, Hassiba Bouktit, Anne Florence Collange, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Mohamed Hamidou, Antoine Neel, Dana Ranta, Roland Jaussaud, Philippe Guilpain, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Ludovic Lhermitte, Nicolas Garcelon, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Frederique Retornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jean Francois Viallard, Christian Lavigne, Cyrille Hoarau, Isabelle Durieu, Mael Heiblig, Sophie Dimicoli-Salazar, Jose Miguel Torregrosa-Diaz, Angele Soria, Michel Arock, Olivier Lortholary, Christine Bodemer, Olivier Hermine, Julien Rossignol, |
Diffuse cutaneous mastocytosis in a girl with M541L polymorphism in KIT gene: Response to treatment with imatinib. Anales de pediatria 2023 10 . Aniza Giacaman, José Antonio Salinas Sanz, Mercedes Guibelalde, Iván Álvarez-Twose, Ana Martín-Santia |
Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals. Allergy 2023 10 . David González-de-Olano, Paula Navarro-Navarro, Javier I Muñoz-González, Laura Sánchez-Muñoz, Ana Henriques, Ana de-Andrés-Martín, Dolores Peralta-Arjonilla, Andrea Mayado, María Jara-Acevedo, Andrés C García-Montero, Alberto Orfao, Iván Álvarez-Two |
Standardized indolent systemic mastocytosis evaluations across a healthcare system: implications for screening accuracy. Blood 2024 4 . Jeremy C McMurray, Curtis S Pacheco, Brandon J Schornack, Xiaoping Sun, Janet A Brunader, Alexis Erica Scott, Juan S Ariza, Chung-Ting J Kou, Ryan C Costantino, Luke M Pittman, Karla E Adams, Aubri M Waters, Eric M Pryor, Jonathan J Lyons, Dean Metcalfe, Irina Maric, Nathan A Bog |
A multi-center retrospective comparison between systemic mastocytosis with t(8;21) AML and KIT mutant t(8;21) AML. Blood advances 2024 1 . Zhibo Zhang, Jia Yin, Guoli Lian, Xiebing Bao, Meng Hu, Zhenfang Liu, Yuan Yu, Ruihua Mi, Yabei Zuo, Pengcheng Shi, Weiyan Zheng, Qian Jiang, Hongying Chao, Peifang Xiao, Weijuan Yu, Yanqiu Han, Yu Wu, Yan Zeng, Depei Wu, Xiaofei Yang, Suning Ch |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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