Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Disease and CBL[original query] |
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| Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
| The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. Leukemia 2013 Sep 27 (9): 1891-901. Allen C, Hills R K, Lamb K, Evans C, Tinsley S, Sellar R, O'Brien M, Yin J L, Burnett A K, Linch D C, Gale R |
| Prognostic score including gene mutations in chronic myelomonocytic leukemia. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013 Jul 31 (19): 2428-36. Itzykson Raphaël, Kosmider Olivier, Renneville Aline, Gelsi-Boyer Véronique, Meggendorfer Manja, Morabito Margot, Berthon Céline, Adès Lionel, Fenaux Pierre, Beyne-Rauzy Odile, Vey Norbert, Braun Thorsten, Haferlach Torsten, Dreyfus François, Cross Nicholas C P, Preudhomme Claude, Bernard Olivier A, Fontenay Michaela, Vainchenker William, Schnittger Susanne, Birnbaum Daniel, Droin Nathalie, Solary Er |
| A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function. Journal of immunology (Baltimore, Md. : 1950) 2014 Nov 193 (9): 4439-47. Stürner Klarissa Hanja, Borgmeyer Uwe, Schulze Christian, Pless Ole, Martin Rola |
| Novel somatic and germline mutations in intracranial germ cell tumours. Nature 2014 Jul 511 (7508): 241-5. Wang Linghua, Yamaguchi Shigeru, Burstein Matthew D, Terashima Keita, Chang Kyle, Ng Ho-Keung, Nakamura Hideo, He Zongxiao, Doddapaneni Harshavardhan, Lewis Lora, Wang Mark, Suzuki Tomonari, Nishikawa Ryo, Natsume Atsushi, Terasaka Shunsuke, Dauser Robert, Whitehead William, Adekunle Adesina, Sun Jiayi, Qiao Yi, Marth Gábor, Muzny Donna M, Gibbs Richard A, Leal Suzanne M, Wheeler David A, Lau Ching |
| Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1, and TET2 mutations. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 May 28 (5): 706-14. Ohgami Robert S, Ma Lisa, Merker Jason D, Gotlib Jason R, Schrijver Iris, Zehnder James L, Arber Daniel |
| ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. PloS one 2014 9 (1): e85362. Damaj Gandhi, Joris Magalie, Chandesris Olivia, Hanssens Katia, Soucie Erinn, Canioni Danielle, Kolb Brigitte, Durieu Isabelle, Gyan Emanuel, Livideanu Cristina, Chèze Stephane, Diouf Momar, Garidi Reda, Georgin-Lavialle Sophie, Asnafi Vahid, Lhermitte Ludovic, Lavigne Christian, Launay David, Arock Michel, Lortholary Olivier, Dubreuil Patrice, Hermine Olivi |
| Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population. Annals of laboratory medicine 2015 May 35 (3): 288-97. Park Sang Hyuk, Lee Hyun Ji, Kim In-Suk, Kang Jeong-Eun, Lee Eun Yup, Kim Hyeoung-Joon, Kim Yeo-Kyeoung, Won Jong-Ho, Bang Soo Mee, Kim Hawk, Song Moo-Kon, Chung Joo Seop, Shin Ho-J |
| Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations. Oncotarget 2016 Jun . Shin Sang-Yong, Lee Seung-Tae, Kim Hee-Jin, Cho Eun Hae, Kim Jong-Won, Park Silvia, Jung Chul Won, Kim Sun-H |
| Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 May . Wang Sa A, Tam Wayne, Tsai Albert G, Arber Daniel A, Hasserjian Robert P, Geyer Julia T, George Tracy I, Czuchlewski David R, Foucar Kathryn, Rogers Heesun J, Hsi Eric D, Bryan Rea B, Bagg Adam, Dal Cin Paola, Zhao Chong, Kelley Todd W, Verstovsek Srdan, Bueso-Ramos Carlos, Orazi Attil |
| Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
| Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. Advances in medical sciences 2017 9 63 (1): 87-93. Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Re |
| 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 |
| Clonal interference of signaling mutations worsens prognosis in core-binding factor acute myeloid leukemia. Blood 2018 Apr . Itzykson Raphael, Duployez Nicolas, Fasan Annette, Decool Gauthier, Marceau-Renaut Alice, Meggendorfer Manja, Jourdan Eric, Petit Arnaud, Lapillonne Hélène, Micol Jean-Baptiste, Cornillet-Lefebvre Pascale, Ifrah Norbert, Leverger Guy, Dombret Hervé, Boissel Nicolas, Haferlach Torsten, Preudhomme Clau |
| Allogeneic stem cell transplantation in patients with myelofibrosis harboring the MPL mutation. European journal of haematology 2019 Aug . Mannina Daniele, Gagelmann Nico, Badbaran Anita, Ditschkowski Markus, Bogdanov Rashit, Robin Marie, Cassinat Bruno, Heuser Michael, Shahswar Rabia, Thol Felicitas, Beelen Dietrich, Kröger Nicola |
| Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 2019 Apr . Hadjadj Jérôme, Aladjidi Nathalie, Fernandes Helder, Leverger Guy, Magérus-Chatinet Aude, Mazerolles Fabienne, Stolzenberg Marie-Claude, Jacques Sidonie, Picard Capucine, Rosain Jérémie, Fourrage Cécile, Hanein Sylvain, Zarhrate Mohammed, Pasquet Marlène, Abou Chahla Wadih, Barlogis Vincent, Bertrand Yves, Pellier Isabelle, Colomb Bottollier Elodie, Fouyssac Fanny, Blouin Pascale, Thomas Caroline, Cheikh Nathalie, Dore Eric, Pondarre Corinne, Plantaz Dominique, Jeziorski Eric, Millot Frédéric, Garcelon Nicolas, Ducassou Stéphane, Perel Yves, Leblanc Thierry, Neven Bénédicte, Fischer Alain, Rieux-Laucat Frédéric, |
| Myeloid malignancies with isolated 7q deletion can be further characterized by their accompanying molecular mutations. Genes, chromosomes & cancer 2019 Apr . Hartmann Luise, Haferlach Claudia, Meggendorfer Manja, Kern Wolfgang, Haferlach Torsten, Stengel An |
| Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes. The American journal of surgical pathology 2020 7 44 (11): 1479-1486. Shah Abhishek, Lal Priti, Toorens Erik, Palmer Matthew B, Schwartz Lauren, Vergara Norge, Guzzo Thomas, Nayak Anup |
| 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 |
| Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease. Leukemia 2021 8 36 (2): 507-515. Dawoud Ahmed A Z, Gilbert Rodney D, Tapper William J, Cross Nicholas C |
| CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia. Annals of hematology 2021 Apr . Qian Yi, Chen Yan, Li Xiaomi |
| MET exon 14 skipping mutation positive non-small cell lung cancer: Response to systemic therapy. Lung cancer (Amsterdam, Netherlands) 2021 Apr 154 142-145. Wong Selina K, Alex Deepu, Bosdet Ian, Hughesman Curtis, Karsan Aly, Yip Stephen, Ho Cher |
| 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 |
| 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 |
| Distinct genetic landscapes and their clinical implications in younger and older patients with myelodysplastic syndromes. Hematological oncology 2022 11 . Lee Wan-Hsuan, Lin Chien-Chin, Wang Yu-Hung, Yao Chi-Yuan, Kuo Yuan-Yeh, Tseng Mei-Hsuan, Peng Yen-Ling, Hsu Cheng-An, Sun Hsun-I, Chuang Yi-Kuang, Hsu Chia-Lang, Tien Feng-Ming, Tsai Cheng-Hong, Chou Wen-Chien, Hou Hsin-An, Tien Hwei-Fa |
| Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue. Acta neuropathologica communications 2023 3 11 (1): 40. Tauber Christina V, Schwarz Sigrid C, Rösler Thomas W, Arzberger Thomas, Gentleman Steve, Windl Otto, Krumbiegel Mandy, Reis André, Ruf Viktoria C, Herms Jochen, Höglinger Günter |
| Atypical CML: diagnosis and treatment. Hematology. American Society of Hematology. Education Program 2023 12 2023 (1): 476-482. Massimo Brecc |
| Comprehensive genomic profiling reveals molecular subsets of ASXL1-mutated myeloid neoplasms. Leukemia & lymphoma 2023 11 1-10. Steven M Johnson, James Haberberger, Jonathan Galeotti, Lori Ramkissoon, Catherine C Coombs, Daniel R Richardson, Matthew C Foster, Daniel Duncan, Nathan D Montgomery, Naomi L Ferguson, Joshua F Zeidn |
| Molecular Landscape and Validation of New Genomic Classification in 2668 Adult AML Patients: Real Life Data from the PETHEMA Registry. Cancers 2023 1 15 (2): . Sargas Claudia, Ayala Rosa, Larráyoz María José, Chillón María Carmen, Carrillo-Cruz Estrella, Bilbao-Sieyro Cristina, Prados de la Torre Esther, Martínez-Cuadrón David, Rodríguez-Veiga Rebeca, Boluda Blanca, Gil Cristina, Bernal Teresa, Bergua Juan Miguel, Algarra Lorenzo, Tormo Mar, Martínez-Sánchez Pilar, Soria Elena, Serrano Josefina, Alonso-Domínguez Juan Manuel, García-Boyero Raimundo, Amigo María Luz, Herrera-Puente Pilar, Sayas María José, Lavilla-Rubira Esperanza, Martínez-López Joaquín, Calasanz María José, García-Sanz Ramón, Pérez-Simón José Antonio, Gómez-Casares María Teresa, Sánchez-García Joaquín, Barragán Eva, Montesinos Pau, On Behalf Of Pethema Grou |
- Page last reviewed:Feb 1, 2024
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