Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Cutaneous Mastocytosis[original query] |
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Interleukin-13 promoter gene polymorphism -1112C/T is associated with the systemic form of mastocytosis. Allergy 2009 Feb 64 (2): 287-94. Nedoszytko B, Niedoszytko M, Lange M, van Doormaal J, Gle? J, Zab?otna M, Renke J, Vales A, Buljubasic F, Jassem E, Roszkiewicz J, Valent |
The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. Allergy 2014 Jun 69 (6): 810-3. Hoermann G, Gleixner K V, Dinu G E, Kundi M, Greiner G, Wimazal F, Hadzijusufovic E, Mitterbauer G, Mannhalter C, Valent P, Sperr W |
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. Leukemia research 2015 1 39 (3): 273-8. De Matteis Giovanna, Zanotti Roberta, Colarossi Sabrina, De Benedittis Caterina, Garcia-Montero Andrès, Bonifacio Massimiliano, Sartori Marta, Aprili Fiorenza, Caruso Beatrice, Paviati Elisa, Carli Giuseppe, Perbellini Omar, Zamò Alberto, Bonadonna Patrizia, Pizzolo Giovanni, Guidi Giancesare, Martinelli Giovanni, Soverini Simo |
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. American journal of medical genetics. Part A 2018 9 176 (11): 2259-2275. Hemati Parisa, Revah-Politi Anya, Bassan Haim, Petrovski Slavé, Bilancia Colleen G, Ramsey Keri, Griffin Nicole G, Bier Louise, Cho Megan T, Rosello Monica, Lynch Sally Ann, Colombo Sophie, Weber Astrid, Haug Marte, Heinzen Erin L, Sands Tristan T, Narayanan Vinodh, Primiano Michelle, Aggarwal Vimla S, Millan Francisca, Sattler-Holtrop Shannon G, Caro-Llopis Alfonso, Pillar Nir, Baker Janice, Freedman Rebecca, Kroes Hester Y, Sacharow Stephanie, Stong Nick, Lapunzina Pablo, Schneider Michael C, Mendelsohn Nancy J, Singleton Amanda, Loik Ramey Valerie, Wou Karen, Kuzminsky Alla, Monfort Sandra, Weiss Monica, Doyle Samantha, Iglesias Alejandro, Martinez Francisco, Mckenzie Fiona, Orellana Carmen, van Gassen Koen L I, Palomares Maria, Bazak Lily, Lee Andy, Bircher Ana, Basel-Vanagaite Lina, Hafström Maria, Houge Gunnar, , , Goldstein David B, Anyane-Yeboa Kwa |
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 |
Pediatric mastocytosis. Current opinion in pediatrics 2020 7 32 (4): 531-538. Hussain Sadaf |
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 |
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 |
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 |
-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? |
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 |
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 |
Mast cell disorders and Hymenoptera venom-triggered anaphylaxis: evaluation and management. The journal of allergy and clinical immunology. In practice 2024 8 . Nathan A Boggs, Ilaria Tanasi, Karin Hartmann, Roberta Zanotti, David Gonzalez-de-Ola |
Prevalence and impact of the KIT M541L variant in patients with mastocytosis. Oncotarget 2024 7 15 521-531. Luisa N Dominguez Aldama, Eric Karlins, Xiaoping Sun, Daniel Veltri, Hirsh D Komarow, Irina Maric, Dean D Metcalfe, Melody C Cart |
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 |
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