Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 27 (of 27 Records) |
Query Trace: Juvenile Myelomonocytic Leukemia[original query] |
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Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. The Journal of clinical endocrinology and metabolism 2004 Jul 89 (7): 3359-64. Yoshida Rie, Hasegawa Tomonobu, Hasegawa Yukihiro, Nagai Toshiro, Kinoshita Eiichi, Tanaka Yoko, Kanegane Hirokazu, Ohyama Kenji, Onishi Toshikazu, Hanew Kunihiko, Okuyama Torayuki, Horikawa Reiko, Tanaka Toshiaki, Ogata Tsuto |
RAS, FLT3, and TP53 mutations in therapy-related myeloid malignancies with abnormalities of chromosomes 5 and 7. Genes, chromosomes & cancer 2004 1 39 (3): 217-23. Side Lucy E, Curtiss Nicole P, Teel Kathryn, Kratz Christian, Wang Pauline W, Larson Richard A, Le Beau Michelle M, Shannon Kevin |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 2005 Sep 106 (6): 2183-5. Kratz Christian P, Niemeyer Charlotte M, Castleberry Robert P, Cetin Mualla, Bergsträsser Eva, Emanuel Peter D, Hasle Henrik, Kardos Gabriela, Klein Cornelia, Kojima Seiji, Stary Jan, Trebo Monika, Zecca Marco, Gelb Bruce D, Tartaglia Marco, Loh Mignon |
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. American journal of medical genetics. Part A 2005 Apr 134A (2): 165-70. Jongmans Marjolijn, Sistermans Erik A, Rikken Alwin, Nillesen Willy M, Tamminga Rienk, Patton Michael, Maier Esther M, Tartaglia Marco, Noordam Kees, van der Burgt Ine |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. Pediatric research 2009 Mar 65 (3): 334-40. Yoshida Nao, Yagasaki Hiroshi, Xu Yinyan, Matsuda Kazuyuki, Yoshimi Ayami, Takahashi Yoshiyuki, Hama Asahito, Nishio Nobuhiro, Muramatsu Hideki, Watanabe Nobuhiro, Matsumoto Kimikazu, Kato Koji, Ueyama Junichi, Inada Hiroko, Goto Hiroaki, Yabe Miharu, Kudo Kazuko, Mimaya Junichi, Kikuchi Akira, Manabe Atsushi, Koike Kenichi, Kojima Sei |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. Annals of hematology 2012 Apr 91 (4): 511-7. Park Hyung-Doo, Lee Soo Hyun, Sung Ki Woong, Koo Hong Hoe, Jung Nak Gyun, Cho Bin, Kim Hak Ki, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee, Yoo Keon Hee, Kim Hee-J |
AML1/RUNX1 gene point mutations in childhood myeloid malignancies. Pediatric blood & cancer 2011 Oct 57 (4): 583-7. Migas Alexandr, Savva Natallia, Mishkova Olga, Aleinikova Olga |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Human genomics 2012 6 (1): 1. Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M |
Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. American journal of hematology 2013 Apr 88 (4): 306-11. Boudry-Labis Elise, Roche-Lestienne Catherine, Nibourel Olivier, Boissel Nicolas, Terre Christine, Perot Christine, Eclache Virginie, Gachard Nathalie, Tigaud Isabelle, Plessis Ghislaine, Cuccuini Wendy, Geffroy Sandrine, Villenet Céline, Figeac Martin, Leprêtre Frederic, Renneville Aline, Cheok Meyling, Soulier Jean, Dombret Hervé, Preudhomme Claude, |
Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias. International journal of hematology 2015 Jul 102 (1): 140-3. Houwing Maite E, Koopman-Coenen Eva A, Kersseboom Rogier, Gooskens Saskia, Appel Inge M, Arentsen-Peters Susan T C J M, de Vries Andrica C H, Reinhardt Dirk, Stary Jan, Baruchel André, de Haas Valerie, Blink Marjolein, Lopes Cardozo Rob H, Pieters Rob, Michel Zwaan C, van den Heuvel-Eibrink Marry |
Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia. Pediatric blood & cancer 2016 May . Raikar Sunil S, Scarborough John D, Sabnis Himalee, Bergsagel John, Wu David, Cooper Todd M, Keller Frank G, Wood Brent L, Bunting Silvia |
Juvenile Myelomonocytic Leukemia in Turkey: A Retrospective Analysis of Sixty-five Patients. Turkish journal of haematology : official journal of Turkish Society of Haematology 2017 Feb . Tüfekçi Özlem, Koçak Ülker, Kaya Zühre, Yenicesu ?dil, Albayrak Canan, Albayrak Davut, Y?lmaz Bengoa ?ebnem, Pat?ro?lu Türkan, Karakükçü Musa, Ünal Ekrem, Ünal ?nce Elif, ?leri Talia, Ertem Mehmet, Celkan Tiraje, Özdemir Gül Nihal, Sarper Nazan, Kaçar Dilek, Yaral? Ne?e, Özbek Nam?k Ya?ar, Küpesiz Alphan, Karap?nar Tuba, Vergin Canan, Çal??kan Ümran, Tokgöz Hüseyin, Sezgin Evim Melike, Baytan Birol, Güne? Adalet Meral, Y?lmaz Karap?nar Deniz, Karaman Serap, Uygun Vedat, Karasu Gülsun, Ye?ilipek Mehmet Akif, Koç Ahmet, Erduran Erol, Atabay Berna, Öniz Haldun, Ören Ha |
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. Nature communications 2017 12 8 (1): 2126. Lipka Daniel B, Witte Tania, Toth Reka, Yang Jing, Wiesenfarth Manuel, Nöllke Peter, Fischer Alexandra, Brocks David, Gu Zuguang, Park Jeongbin, Strahm Brigitte, Wlodarski Marcin, Yoshimi Ayami, Claus Rainer, Lübbert Michael, Busch Hauke, Boerries Melanie, Hartmann Mark, Schönung Maximilian, Kilik Umut, Langstein Jens, Wierzbinska Justyna A, Pabst Caroline, Garg Swati, Catalá Albert, De Moerloose Barbara, Dworzak Michael, Hasle Henrik, Locatelli Franco, Masetti Riccardo, Schmugge Markus, Smith Owen, Stary Jan, Ussowicz Marek, van den Heuvel-Eibrink Marry M, Assenov Yassen, Schlesner Matthias, Niemeyer Charlotte, Flotho Christian, Plass Christo |
Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia. Nature communications 2017 12 8 (1): 2127. Stieglitz Elliot, Mazor Tali, Olshen Adam B, Geng Huimin, Gelston Laura C, Akutagawa Jon, Lipka Daniel B, Plass Christoph, Flotho Christian, Chehab Farid F, Braun Benjamin S, Costello Joseph F, Loh Mignon |
CTLA-4 polymorphisms: influence on transplant-related mortality and survival in children undergoing allogeneic hematopoietic stem cell transplantation. Journal of cancer research and clinical oncology 2018 Jan . Hammrich Judith, Wittig Susan, Ernst Thomas, Gruhn Ber |
PTPN11 mutation with additional somatic alteration indicates unfavorable outcome in juvenile myelomonocytic leukemia: a retrospective clinical study from a single center. European journal of pediatrics 2019 Dec . Miao Yan, Li Benshang, Ding Lixia, Zhu Hua, Luo Changying, Wang Jianmin, Luo Chengjuan, Chen Ji |
Role of lncRNA Morrbid in PTPN11(Shp2)E76K-driven juvenile myelomonocytic leukemia. Blood advances 2020 7 4 (14): 3246-3251. Cai Zhigang, Zhang Chi, Kotzin Jonathan J, Williams Adam, Henao-Mejia Jorge, Kapur Reub |
The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia. Leukemia 2020 6 35 (3): 691-700. Alfayez Mansour, Issa Ghayas C, Patel Keyur P, Wang Feng, Wang Xuemei, Short Nicholas J, Cortes Jorge E, Kadia Tapan, Ravandi Farhad, Pierce Sherry, Assi Rita, Garcia-Manero Guillermo, DiNardo Courtney D, Daver Naval, Pemmaraju Naveen, Kantarjian Hagop, Borthakur Gaut |
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. Best practice & research. Clinical haematology 2020 5 33 (2): 101171. Lasho Terra, Patnaik Mrinal |
RAS Pathway Mutation Patterns in Patients With Juvenile Myelomonocytic Leukemia: A Developing Country Single-center Experience. Clinical lymphoma, myeloma & leukemia 2020 Feb . Hamdy Nayera, Bokhary Hossam, Elsayed Amr, Hozayn Walaa, Soliman Sonya, Salem Sherine, Alsheshtawi Khaled, Abdalla Amr, Hafez Hanafy, Hammad Mahmo |
Human leukocyte antigen disparities reduce relapse after hematopoietic stem cell transplantation in children with juvenile myelomonocytic leukemia: A single-center retrospective study from China. Pediatric transplantation 2020 11 25 (2): e13825. Lin Yu-Chen, Luo Cheng-Juan, Miao Yan, Wang Jian-Min, Luo Chang-Ying, Qin Xia, Cai Jiao-Yang, Li Ben-Shang, Chen Ji |
Donor Killer Immunoglobulin Receptor Gene Content and Ligand Matching and Outcomes of Pediatric Patients with Juvenile Myelomonocytic Leukemia Following Unrelated Donor Transplantation. Transplantation and cellular therapy 2021 8 27 (11): 926.e1-926.e10. Rangarajan Hemalatha G, Pereira Marcelo S F, Brazauskas Ruta, St Martin Andrew, Kussman Ashleigh, Elmas Ezgi, Verneris Michael R, Gadalla Shahinaz M, Marsh Steven G E, Paczesny Sophie, Spellman Stephen R, Lee Stephanie J, Lee Dean |
Mutational landscape of Juvenile Myelomonocytic Leukemia (JMML)-A real-world context. International journal of laboratory hematology 2021 Aug . Nathany Shrinidhi, Chatterjee Gaurav, Ghai Shruti, Moulik Nirmalya Roy, Shetty Dhanalaxmi, Subramanian P G, Tembhare Prashant, Gujral Sumeet, Dhamne Chetan, Banavali Sripad, Narula Gaurav, Patkar Nikh |
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant. European journal of medical genetics 2021 5 64 (7): 104236. Alghamdi Malak, Monies Dorota, Alsohime Fahad, Temsah Hani, Almodaihsh Fahad, Aldawasri Mana, Alsultan Abdulrahman, Alkuraya Fowzan |
Juvenile xanthogranuloma in Noonan syndrome. American journal of medical genetics. Part A 2021 5 185 (10): 3048-3052. Ali Marwan M, Gilliam Amy E, Ruben Beth S, Tidyman William E, Rauen Katherine |
Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia. Pediatric blood & cancer 2022 8 69 (10): e29909. Janczar Szymon, Kirschner Martin, Beier Fabian, Brümmendorf Tim H, Ussowicz Marek, Babol-Pokora Katarzyna, Oszer Aleksandra, Yoshimi Ayami, Kalwak Krzysztof, Mlynarski Wojcie |
[Genetic characteristics and survival analysis of 27 cases of juvenile myelomonocytic leukemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 1 61 (1): 56-60. Li J J, Hu T, Li J H, Zhang Z X, Feng S Q, Shi X D, Zhang L, Cao J, Song Z L, Hu M Z, Zhong D X, Yue M, Fan W, Tang R H, Zou B H, Liu |
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- Page last updated:Apr 22, 2024
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