HuGE Literature Finder
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Records 1-100
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Co-occurring genetic alterations predict distant metastasis and poor efficacy of first-line EGFR-TKIs in EGFR-mutant NSCLC.
Journal of cancer research and clinical oncology 2019 Aug . Deng Li-Li, Gao Ge, Deng Hong-Bin, Wang Feng, Wang Zhi-Hui, Yang |
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Homogeneously staining region (hsr) on chromosome 11 is highly specific for KMT2A amplification in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).
Cancer genetics 2019 Jul 238 18-22. Sakhdari Ali, Tang Zhenya, Ok Chi Young, Bueso-Ramos Carlos E, Medeiros L Jeffrey, Huh Yang |
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Frequency and clinical significance of NF1 mutation in lung adenocarcinomas from East Asian patients.
International journal of cancer 2018 Sep . Pan Yunjian, Yuan Chongze, Cheng Chao, Zhang Yiliang, Ma Yuan, Zheng Difan, Zheng Shanbo, Li Yuan, Jin Yan, Sun Yihua, Chen Haiqu |
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Granular cell astrocytoma: an aggressive IDH-wildtype diffuse gliomarwith molecular genetic features of primary glioblastoma.
Brain pathology (Zurich, Switzerland) 2018 Sep . Vizcaino M Adelita, Palsgrove Doreen N, Yuan Ming, Giannini Caterina, Cabrera-Aldana Eibar Ernesto, Pallavajjala Aparna, Burger Peter C, Rodriguez Fausto |
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The prognostic effects of somatic mutations in ER-positive breast cancer.
Nature communications 2018 Sep 9 (1): 3476. Griffith Obi L, Spies Nicholas C, Anurag Meenakshi, Griffith Malachi, Luo Jingqin, Tu Dongsheng, Yeo Belinda, Kunisaki Jason, Miller Christopher A, Krysiak Kilannin, Hundal Jasreet, Ainscough Benjamin J, Skidmore Zachary L, Campbell Katie, Kumar Runjun, Fronick Catrina, Cook Lisa, Snider Jacqueline E, Davies Sherri, Kavuri Shyam M, Chang Eric C, Magrini Vincent, Larson David E, Fulton Robert S, Liu Shuzhen, Leung Samuel, Voduc David, Bose Ron, Dowsett Mitch, Wilson Richard K, Nielsen Torsten O, Mardis Elaine R, Ellis Matthew |
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Identification of nine new susceptibility loci for endometrial cancer.
Nature communications 2018 Aug 9 (1): 3166. O'Mara Tracy A, Glubb Dylan M, Amant Frederic, Annibali Daniela, Ashton Katie, Attia John, Auer Paul L, Beckmann Matthias W, Black Amanda, Bolla Manjeet K, Brauch Hiltrud, Brenner Hermann, Brinton Louise, Buchanan Daniel D, Burwinkel Barbara, Chang-Claude Jenny, Chanock Stephen J, Chen Chu, Chen Maxine M, Cheng Timothy H T, Clarke Christine L, Clendenning Mark, Cook Linda S, Couch Fergus J, Cox Angela, Crous-Bous Marta, Czene Kamila, Day Felix, Dennis Joe, Depreeuw Jeroen, Doherty Jennifer Anne, Dörk Thilo, Dowdy Sean C, Dürst Matthias, Ekici Arif B, Fasching Peter A, Fridley Brooke L, Friedenreich Christine M, Fritschi Lin, Fung Jenny, García-Closas Montserrat, Gaudet Mia M, Giles Graham G, Goode Ellen L, Gorman Maggie, Haiman Christopher A, Hall Per, Hankison Susan E, Healey Catherine S, Hein Alexander, Hillemanns Peter, Hodgson Shirley, Hoivik Erling A, Holliday Elizabeth G, Hopper John L, Hunter David J, Jones Angela, Krakstad Camilla, Kristensen Vessela N, Lambrechts Diether, Marchand Loic Le, Liang Xiaolin, Lindblom Annika, Lissowska Jolanta, Long Jirong, Lu Lingeng, Magliocco Anthony M, Martin Lynn, McEvoy Mark, Meindl Alfons, Michailidou Kyriaki, Milne Roger L, Mints Miriam, Montgomery Grant W, Nassir Rami, Olsson Håkan, Orlow Irene, Otton Geoffrey, Palles Claire, Perry John R B, Peto Julian, Pooler Loreall, Prescott Jennifer, Proietto Tony, Rebbeck Timothy R, Risch Harvey A, Rogers Peter A W, Rübner Matthias, Runnebaum Ingo, Sacerdote Carlotta, Sarto Gloria E, Schumacher Fredrick, Scott Rodney J, Setiawan V Wendy, Shah Mitul, Sheng Xin, Shu Xiao-Ou, Southey Melissa C, Swerdlow Anthony J, Tham Emma, Trovik Jone, Turman Constance, Tyrer Jonathan P, Vachon Celine, VanDen Berg David, Vanderstichele Adriaan, Wang Zhaoming, Webb Penelope M, Wentzensen Nicolas, Werner Henrica M J, Winham Stacey J, Wolk Alicja, Xia Lucy, Xiang Yong-Bing, Yang Hannah P, Yu Herbert, Zheng Wei, Pharoah Paul D P, Dunning Alison M, Kraft Peter, De Vivo Immaculata, Tomlinson Ian, Easton Douglas F, Spurdle Amanda B, Thompson Deborah |
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Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.
Cancer cell 2018 Aug 34 (2): 242-255.e5. Gopal Raj K, Kübler Kirsten, Calvo Sarah E, Polak Paz, Livitz Dimitri, Rosebrock Daniel, Sadow Peter M, Campbell Braidie, Donovan Samuel E, Amin Salma, Gigliotti Benjamin J, Grabarek Zenon, Hess Julian M, Stewart Chip, Braunstein Lior Z, Arndt Peter F, Mordecai Scott, Shih Angela R, Chaves Frances, Zhan Tiannan, Lubitz Carrie C, Kim Jiwoong, Iafrate A John, Wirth Lori, Parangi Sareh, Leshchiner Ignaty, Daniels Gilbert H, Mootha Vamsi K, Dias-Santagata Dora, Getz Gad, McFadden David |
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Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
Breast cancer research and treatment 2018 Jun . Yap Yoon-Sim, Munusamy Prabhakaran, Lim Cindy, Chan Claire H T, Prawira Aldo, Loke Sau-Yeen, Lim Swee-Ho, Ong Kong-Wee, Yong Wei-Sean, Ng Sarah B H, Tan Iain B H, Callen David F, Lim Jeffrey C T, Thike Aye-Aye, Tan Puay-Hoon, Lee Ann S |
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The genetic landscape of ganglioglioma.
Acta neuropathologica communications 2018 Jun 6 (1): 47. Pekmezci Melike, Villanueva-Meyer Javier E, Goode Benjamin, Van Ziffle Jessica, Onodera Courtney, Grenert James P, Bastian Boris C, Chamyan Gabriel, Maher Ossama M, Khatib Ziad, Kleinschmidt-DeMasters Bette K, Samuel David, Mueller Sabine, Banerjee Anuradha, Clarke Jennifer L, Cooney Tabitha, Torkildson Joseph, Gupta Nalin, Theodosopoulos Philip, Chang Edward F, Berger Mitchel, Bollen Andrew W, Perry Arie, Tihan Tarik, Solomon David |
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Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Expert review of molecular diagnostics 2018 Apr 1-10. Rosset Clévia, Vairo Filippo, Cristina Bandeira Isabel, Fonini Maievi, Netto Cristina Brinckmann Oliveira, Ashton-Prolla Patric |
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NF1 mutations in conjunctival melanoma.
British journal of cancer 2018 Mar . Scholz S L, Cosgarea I, Süßkind D, Murali R, Möller I, Reis H, Leonardelli S, Schilling B, Schimming T, Hadaschik E, Franklin C, Paschen A, Sucker A, Steuhl K P, Schadendorf D, Westekemper H, Griewank K |
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DR4 mediates the progression, invasion, metastasis and survival of colorectal cancer through the Sp1/NF1 switch axis on genomic locus.
International journal of cancer 2018 Feb . Wu Shenshen, Meng Qingtao, Zhang Chengcheng, Sun Hao, Lu Runze, Gao Na, Yang Hongbao, Li Xiaobo, Aschner Michael, Chen R |
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Next-generation panel sequencing identifies
European journal of endocrinology 2018 Feb 178 (2): K1-K9. Gieldon Laura, Masjkur Jimmy Rusdian, Richter Susan, Därr Roland, Lahera Marcos, Aust Daniela, Zeugner Silke, Rump Andreas, Hackmann Karl, Tzschach Andreas, Januszewicz Andrzej, Prejbisz Aleksander, Eisenhofer Graeme, Schrock Evelin, Robledo Mercedes, Klink Barba |
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Association of mutations with morphologic dysplasia in de novo acute myeloid leukemia without 2016 WHO Classification-defined cytogenetic abnormalities.
Haematologica 2018 Jan . Weinberg Olga K, Gibson Christopher J, Blonquist Traci M, Neuberg Donna, Pozdnyakova Olga, Kuo Frank, Ebert Benjamin L, Hasserjian Robert |
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Racial Disparities in the Molecular Landscape of Cancer.
Anticancer research 2018 04 38 (4): 2235-2240. Heath Elisabeth I, Lynce Filipa, Xiu Joanne, Ellerbrock Angela, Reddy Sandeep K, Obeid Elias, Liu Stephen V, Bollig-Fischer Aliccia, Separovic Duska, Vanderwalde A |
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SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.
BMC cancer 2018 04 18 (1): 479. Mei Zhu, Shao Yang W, Lin Peinan, Cai Xiaomin, Wang Biao, Ding Yan, Ma Xiangyuan, Wu Xue, Xia Yewei, Zhu Dongqin, Shu Yongqian, Fu Zan, Gu Yanho |
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The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers.
Cancer cell 2018 09 34 (3): 427-438.e6. Razavi Pedram, Chang Matthew T, Xu Guotai, Bandlamudi Chaitanya, Ross Dara S, Vasan Neil, Cai Yanyan, Bielski Craig M, Donoghue Mark T A, Jonsson Philip, Penson Alexander, Shen Ronglai, Pareja Fresia, Kundra Ritika, Middha Sumit, Cheng Michael L, Zehir Ahmet, Kandoth Cyriac, Patel Ruchi, Huberman Kety, Smyth Lillian M, Jhaveri Komal, Modi Shanu, Traina Tiffany A, Dang Chau, Zhang Wen, Weigelt Britta, Li Bob T, Ladanyi Marc, Hyman David M, Schultz Nikolaus, Robson Mark E, Hudis Clifford, Brogi Edi, Viale Agnes, Norton Larry, Dickler Maura N, Berger Michael F, Iacobuzio-Donahue Christine A, Chandarlapaty Sarat, Scaltriti Maurizio, Reis-Filho Jorge S, Solit David B, Taylor Barry S, Baselga Jo |
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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul |
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Genetic status determines
Journal of medical imaging and radiation oncology 2017 Dec 61 (6): 745-752. Tiwari Ankita, Shah Nalini, Sarathi Vijaya, Malhotra Gaurav, Bakshi Ganesh, Prakash Gagan, Khadilkar Kranti, Pandit Reshma, Lila Anurag, Bandgar Tush |
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Melanoma Tumor Characteristics: An Analysis of Mutational Burden and Copy Number Alterations by Patient Age and Stage.
The Journal of investigative dermatology 2017 Dec . Conic Ruzica Z, Arbesman Josh |
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A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.
Cancer 2017 Nov . Tricoli James V, Boardman Lisa A, Patidar Rajesh, Sindiri Sivasish, Jang Jin S, Walsh William D, McGregor Paul M, Camalier Corinne E, Mehaffey Michele G, Furman Wayne L, Bahrami Armita, Williams P Mickey, Lih Chih-Jian, Conley Barbara A, Khan Jav |
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Genetic Alterations in Primary Acral Melanoma and Acral Melanocytic Nevus in Korea: Common Mutated Genes Show Distinct Cytomorphological Features.
The Journal of investigative dermatology 2017 Nov . Moon Ki Rang, Choi Yoo Duk, Kim Jung Min, Jin Suna, Shin Min-Ho, Shim Hyun-Jeong, Lee Jee-Bum, Yun Sook Ju |
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RASA1 and NF1 are preferentially co-mutated and define a distinct genetic subset of smoking-associated non-small cell lung carcinomas sensitive to MEK inhibition.
Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Nov . Hayashi Takuo, Desmeules Patrice, Smith Roger S, Drilon Alexander, Somwar Romel, Ladanyi Ma |
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
JAMA oncology 2017 Sep 3 (9): 1190-1196. Couch Fergus J, Shimelis Hermela, Hu Chunling, Hart Steven N, Polley Eric C, Na Jie, Hallberg Emily, Moore Raymond, Thomas Abigail, Lilyquist Jenna, Feng Bingjian, McFarland Rachel, Pesaran Tina, Huether Robert, LaDuca Holly, Chao Elizabeth C, Goldgar David E, Dolinsky Jill |
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Genetic variations of bone marrow mesenchymal stromal cells derived from acute leukemia and myelodysplastic syndrome by targeted deep sequencing.
Leukemia research 2017 Sep 62 23-28. Azuma Kenko, Umezu Tomohiro, Imanishi Satoshi, Asano Michiyo, Yoshizawa Seiichiro, Katagiri Seiichiro, Ohyashiki Kazuma, Ohyashiki Junko |
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Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.
Oncotarget 2017 Jun 8 (25): 40683-40692. Cosgarea Ioana, Ugurel Selma, Sucker Antje, Livingstone Elisabeth, Zimmer Lisa, Ziemer Mirjana, Utikal Jochen, Mohr Peter, Pfeiffer Christiane, Pföhler Claudia, Hillen Uwe, Horn Susanne, Schadendorf Dirk, Griewank Klaus G, Roesch Alexand |
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Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.
Journal of pediatric endocrinology & metabolism : JPEM 2017 Apr . Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Pandit Reshma, Goroshi Manjunath, Shivane Vyankatesh, Lila Anurag, Bandgar Tushar, Shah Nalini |
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Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Genes, chromosomes & cancer 2017 Jan . Sohier Pierre, Luscan Armelle, Lloyd Angharad, Ashelford Kevin, Laurendeau Ingrid, Briand-Suleau Audrey, Vidaud Dominique, Ortonne Nicolas, Pasmant Eric, Upadhyaya Mee |
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Desmoplastic melanoma: a challenge for the oncologist.
Future oncology (London, England) 2016 Oct . Manfredini Marco, Pellacani Giovanni, Losi Lorena, Maccaferri Monia, Tomasi Aldo, Ponti Giovan |
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Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
European journal of endocrinology / European Federation of Endocrine Societies 2016 Oct 175 (4): 311-23. Pandit Reshma, Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Goroshi Manjunath, Khare Shruti, Nair Sandhya, Raghavan Vijaya, Dalvi Abhay, Hira Priya, Fernandes Gwendolyn, Sathe Pragati, Rojekar Amey, Malhotra Gaurav, Bakshi Ganesh, Prakash Gagan, Bhansali Anil, Walia Rama, Kamalanathan Sadishkumar, Sahoo Jayaprakash, Desai Ankush, Bhagwat Nikhil, Mappa Prashanth, Rajput Rajesh, Chandrashekhar Sudha Rao, Shivane Vyankatesh, Menon Padma, Lila Anurag, Bandgar Tushar, Shah Nali |
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Identification of recurrent mutational events in anorectal melanoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 Oct . Yang Hui Min, Hsiao Susan J, Schaeffer David F, Lai Chi, Remotti Helen E, Horst David, Mansukhani Mahesh M, Horst Basil |
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Targeted next-generation sequencing for TP53, RAS, BRAF, ALK and NF1 mutations in anaplastic thyroid cancer.
Endocrine 2016 Oct . Latteyer Soeren, Tiedje Vera, König Katharina, Ting Saskia, Heukamp Lukas C, Meder Lydia, Schmid Kurt Werner, Führer Dagmar, Moeller Lars Christi |
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Targeted next generation sequencing identifies markers of response to PD-1 blockade.
Cancer immunology research 2016 Sep . Johnson Douglas B, Frampton Garrett M, Rioth Matthew J, Yusko Erik, Xu Yaomin, Guo Xingyi, Ennis Riley C, Fabrizio David, Chalmers Zachary R, Greenbowe Joel, Ali Siraj M, Balasubramanian Sohail, Sun James X, He Yuting, Frederick Dennie T, Puzanov Igor, Balko Justin M, Cates Justin M, Ross Jeffrey S, Sanders Catherine, Robins Harlan, Shyr Yu, Miller Vincent, Stephens Philip J, Sullivan Ryan J, Sosman Jeffrey A, Lovly Christine |
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HER2 mutations in Chinese patients with non-small cell lung cancer.
Oncotarget 2016 Aug . Song Zhengbo, Yu Xinmin, Shi Zhiyong, Zhao Jun, Zhang Yipi |
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Targeted Exome Sequencing of the Cancer Genome in Patients with Very High-risk Bladder Cancer.
European urology 2016 Aug . Longo Thomas, McGinley Kathleen F, Freedman Jennifer A, Etienne Wiguins, Wu Yuan, Sibley Alexander, Owzar Kouros, Gresham Jeremy, Moy Christopher, Szabo Stephen, Greshock Joel, Zhou Hui, Bai Yuchen, Inman Brant |
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Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation.
The Journal of dermatology 2016 Jul . Zhu Lude, Shi Lei, Wang Bo, Bi Mingye, Pu Jie, Zhang Linglin, Zhang Yunfeng, Wang Xiuli, Zhang Guolo |
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Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen.
European journal of human genetics : EJHG 2016 Jun . Kluwe L |
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Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma.
The Journal of pathology 2016 Jun . Tetzlaff Michael T, Singh Rajesh R, Seviour Elena G, Curry Jonathan L, Hudgens Courtney W, Bell Diana, Wimmer Daniel A, Ning Jing, Czerniak Bogdan A, Zhang Li, Davies Michael A, Prieto Victor G, Broaddus Russell R, Ram Prahlad, Luthra Rajyalakshmi, Esmaeli Bi |
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Comparative analysis of the GNAQ, GNA11, SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum.
Pigment cell & melanoma research 2016 Apr . Johnson Douglas B, Roszik Jason, Shoushtari Alexander N, Eroglu Zeynep, Balko Justin, Higham Catherine, Puzanov Igor, Patel Sapna P, Sosman Jeffrey A, Woodman Scott |
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Comprehensive molecular characterization of salivary duct carcinoma reveals actionable targets and similarity to apocrine breast cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Apr . Dalin Martin G, Desrichard Alexis, Katabi Nora, Makarov Vladimir, Walsh Logan A, Lee Ken-Wing, Wang Qingguo, Armenia Joshua, West Lyndsay, Dogan Snjezana, Wang Lu, Ramaswami Deepa, Ho Alan L, Ganly Ian, Solit David, Berger Michael F, Schultz Nikolaus, Reis-Filho Jorge S, Chan Timothy A, Morris Luc |
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Molecular cytology genotyping of primary and metastatic GI stromal tumors by using a custom 2-gene targeted next-generation sequencing panel with therapeutic intent.
Gastrointestinal endoscopy 2016 Apr . Gleeson Ferga C, Kerr Sarah E, Kipp Benjamin R, Voss Jesse S, Minot Douglas M, Tu Zheng Jin, Henry Michael R, Vasmatzis George, Cheville John C, Lazaridis Konstantinos N, Levy Michael |
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Tumor mutational analysis of GOG248, a phase II study of temsirolimus or temsirolimus and alternating megestrol acetate and tamoxifen for advanced endometrial cancer (EC): An NRG Oncology/Gynecologic Oncology Group study.
Gynecologic oncology 2016 Apr 141 (1): 43-8. Myers Andrea P, Filiaci Virginia L, Zhang Yuping, Pearl Michael, Behbakht Kian, Makker Vicky, Hanjani Parviz, Zweizig Susan, Burke James J, Downey Gordon, Leslie Kimberly K, Van Hummelen Paul, Birrer Michael J, Fleming Gini |
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Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
Critical reviews in oncology/hematology 2016 Apr 100 190-208. Pillai Suja, Gopalan Vinod, Smith Robert A, Lam Alfred K |
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Neurofibromin protein loss in desmoplastic melanoma subtypes: implicating NF1 allelic loss as a distinct genetic driver?
Human pathology 2016 Mar . Kadokura Alexander, Frydenlund Noah, Leone Dominick A, Yang Shi, Hoang Mai P, Deng April, Hernandez-Perez Marier, Biswas Asok, Singh Rajendra, Yaar Ron, Mahalingam Mee |
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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Human genetics 2016 Mar . Hutter Sonja, Piro Rosario M, Waszak Sebastian M, Kehrer-Sawatzki Hildegard, Friedrich Reinhard E, Lassaletta Alvaro, Witt Olaf, Korbel Jan O, Lichter Peter, Schuhmann Martin U, Pfister Stefan M, Tabori Uri, Mautner Victor F, Jones David T |
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Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status.
Journal of neuropathology and experimental neurology 2016 Mar . Roth Jacquelyn J, Fierst Tamara M, Waanders Angela J, Yimei Li, Biegel Jaclyn A, Santi Mariari |
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Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.
Journal of neurosurgery. Pediatrics 2016 Feb 1-6. Phi Ji Hoon, Choi Jung Won, Seong Moon-Woo, Kim Tackeun, Moon Youn Joo, Lee Joongyub, Koh Eun Jung, Ryu Seul Ki, Kang Tae Hee, Bang Jae Seung, Oh Chang Wan, Park Sung Sup, Lee Ji Yeoun, Wang Kyu-Chang, Kim Seung- |
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Clinical and molecular characteristics of NF1 mutant lung cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Feb . Redig Amanda J, Capelletti Marzia, Dahlberg Suzanne E, Sholl Lynette M, Mach Stacy L, Fontes Caitlin, Shi Yunling, Chalasani Poornima, Janne Pasi |
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Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer.
Journal of molecular medicine (Berlin, Germany) 2016 Feb . Er Tze-Kiong, Su Yu-Fa, Wu Chun-Chieh, Chen Chih-Chieh, Wang Jing, Hsieh Tsung-Hua, Herreros-Villanueva Marta, Chen Wan-Tzu, Chen Yi-Ting, Liu Ta-Chih, Chen Hung-Sheng, Tsai Eing-M |
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Chromosomal microarray provides enhanced targetable gene aberration detection when paired with next generation sequencing panel in profiling lung and colorectal tumors.
Cancer genetics 2016 Jan . Mukherjee S, Ma Z, Wheeler S, Sathanoori M, Coldren C, Prescott J L, Kozyr N, Bouzyk M, Correll M, Ho H, Chandra P K, Lennon P |
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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
European journal of human genetics : EJHG 2016 11 24 (11): 1591-1597. Byers Helen, Wallis Yvonne, van Veen Elke M, Lalloo Fiona, Reay Kim, Smith Philip, Wallace Andrew J, Bowers Naomi, Newman William G, Evans D Gare |
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UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.
Cancer research 2015 Dec . Wong Stephen Q, Waldeck Kelly, Vergara Ismael A, Schröder Jan, Madore Jason, Wilmott James S, Colebatch Andrew J, De Paoli-Iseppi Ricardo, Li Jason, Lupat Richard, Semple Timothy, Arnau Gisela Mir, Fellowes Andrew, Leonard J Helen, Hruby George, Mann Graham J, Thompson John F, Cullinane Carleen, Johnston Meredith, Shackleton Mark, Sandhu Shahneen, Bowtell David D L, Johnstone Ricky W, Fox Stephen B, McArthur Grant A, Papenfuss Anthony T, Scolyer Richard A, Gill Anthony J, Hicks Rodney J, Tothill Richard |
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Genotype-dependent Brown Adipose Tissue Activation in Patients with Pheochromocytoma and Paraganglioma.
The Journal of clinical endocrinology and metabolism 2015 Nov jc20153205. Puar Troy, van Berkel Anouk, Gotthardt Martin, Havekes Bas, Hermus Ad R M M, Lenders Jacques W M, van Marken Lichtenbelt Wouter D, Xu Ying, Brans Boudewijn, Timmers Henri J L |
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A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1.
Journal of neurochemistry 2015 Oct . Esposito Teresa, Piluso Giulio, Saracino Dario, Uccello Rossella, Schettino Carla, Dato Clemente, Capaldo Guglielmo, Giugliano Teresa, Varriale Bruno, Paolisso Giuseppe, Di Iorio Giuseppe, Melone Mariarosa A |
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Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
The Journal of dermatology 2015 Oct . Yao Ruen, Wang Lili, Yu Yongguo, Wang Jian, Shen Yipi |
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NF1 Mutations Are Common in Desmoplastic Melanoma.
The American journal of surgical pathology 2015 Oct 39 (10): 1357-62. Wiesner Thomas, Kiuru Maija, Scott Sasinya N, Arcila Maria, Halpern Allan C, Hollmann Travis, Berger Michael F, Busam Klaus |
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Clinicopathologic implications of NF1 gene alterations in diffuse gliomas.
Human pathology 2015 Sep 46 (9): 1323-30. Vizcaíno M Adelita, Shah Smit, Eberhart Charles G, Rodriguez Fausto |
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Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nature genetics 2015 Sep 47 (9): 996-1002. Krauthammer Michael, Kong Yong, Bacchiocchi Antonella, Evans Perry, Pornputtapong Natapol, Wu Cen, McCusker James P, Ma Shuangge, Cheng Elaine, Straub Robert, Serin Merdan, Bosenberg Marcus, Ariyan Stephan, Narayan Deepak, Sznol Mario, Kluger Harriet M, Mane Shrikant, Schlessinger Joseph, Lifton Richard P, Halaban Ru |
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Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
Nature genetics 2015 Sep . Shain A Hunter, Garrido Maria, Botton Thomas, Talevich Eric, Yeh Iwei, Sanborn J Zachary, Chung Jongsuk, Wang Nicholas J, Kakavand Hojabr, Mann Graham J, Thompson John F, Wiesner Thomas, Roy Ritu, Olshen Adam B, Gagnon Alexander, Gray Joe W, Huh Nam, Hur Joe S, Busam Klaus J, Scolyer Richard A, Cho Raymond J, Murali Rajmohan, Bastian Boris |
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Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 Aug . Lee C H, Cheung C Y Y, Chow W S, Woo Y C, Yeung C Y, Lang B H H, Fong C H Y, Kwok K H M, Chen S P L, Mak C M, Tan K C B, Lam K S |
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Low frequency of mutations in Chinese with acute myeloid leukemia: Different disease or different aetiology?
Leukemia research 2015 Jun 39 (6): 646-8. Yin Jiawei, Xie Xiaoli, Zhang Fan, Chen Zheng, Hu Chenxi, Su Guangsong, Liu Hong, Zheng Yanwen, He Chao, Shen Hongjie, Qiu Qiaocheng, He Jun, Pan Zhirong, Gale Robert Peter, Wu Depei, Yin B |
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SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 Jun 28 (6): 807-21. Papathomas Thomas G, Oudijk Lindsey, Persu Alexandre, Gill Anthony J, van Nederveen Francien, Tischler Arthur S, Tissier Frédérique, Volante Marco, Matias-Guiu Xavier, Smid Marcel, Favier Judith, Rapizzi Elena, Libe Rosella, Currás-Freixes Maria, Aydin Selda, Huynh Thanh, Lichtenauer Urs, van Berkel Anouk, Canu Letizia, Domingues Rita, Clifton-Bligh Roderick J, Bialas Magdalena, Vikkula Miikka, Baretton Gustavo, Papotti Mauro, Nesi Gabriella, Badoual Cécile, Pacak Karel, Eisenhofer Graeme, Timmers Henri J, Beuschlein Felix, Bertherat Jérôme, Mannelli Massimo, Robledo Mercedes, Gimenez-Roqueplo Anne-Paule, Dinjens Winand Nm, Korpershoek Esther, de Krijger Ronald |
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Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
European journal of human genetics : EJHG 2015 May 23 (5): 596-601. Pasmant Eric, Parfait Béatrice, Luscan Armelle, Goussard Philippe, Briand-Suleau Audrey, Laurendeau Ingrid, Fouveaut Corinne, Leroy Chrystel, Montadert Annelore, Wolkenstein Pierre, Vidaud Michel, Vidaud Dominiq |
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Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
Journal of medical genetics 2015 Apr 52 (4): 256-61. Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Ro |
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Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.
Molecular cancer research : MCR 2015 Apr 13 (4): 613-9. Cani Andi K, Hovelson Daniel H, McDaniel Andrew S, Sadis Seth, Haller Michaela J, Yadati Venkata, Amin Anmol M, Bratley Jarred, Bandla Santhoshi, Williams Paul D, Rhodes Kate, Liu Chia-Jen, Quist Michael J, Rhodes Daniel R, Grasso Catherine S, Kleer Celina G, Tomlins Scott |
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NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Journal of human genetics 2015 Apr 60 (4): 221-4. Imbard Apolline, Pasmant Eric, Sabbagh Audrey, Luscan Armelle, Soares Magali, Goussard Philippe, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanne-Chantelot Christine, Vidaud Dominique, Wolkenstein Pierre, , Parfait Béatri |
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High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas.
Gene 2015 Mar 558 (2): 220-6. Asai Akiko, Karnan Sivasundaram, Ota Akinobu, Takahashi Miyuki, Damdindorj Lhagvasuren, Konishi Yuko, Hossain Ekhtear, Konishi Hiroyuki, Nagata Ayako, Yokoo Kazuhisa, Hosokawa Yoshita |
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Integrated copy number and expression analysis identifies profiles of whole-arm chromosomal alterations and subgroups with favorable outcome in ovarian clear cell carcinomas.
PloS one 2015 10 (6): e0128066. Uehara Yuriko, Oda Katsutoshi, Ikeda Yuji, Koso Takahiro, Tsuji Shingo, Yamamoto Shogo, Asada Kayo, Sone Kenbun, Kurikawa Reiko, Makii Chinami, Hagiwara Otoe, Tanikawa Michihiro, Maeda Daichi, Hasegawa Kosei, Nakagawa Shunsuke, Wada-Hiraike Osamu, Kawana Kei, Fukayama Masashi, Fujiwara Keiichi, Yano Tetsu, Osuga Yutaka, Fujii Tomoyuki, Aburatani Hiroyu |
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Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Scientific reports 2015 5 11291. Zhang Jia, Tong Hanxing, Fu Xi'an, Zhang Yong, Liu Jiangbo, Cheng Ruhong, Liang Jianying, Peng Jie, Sun Zhonghui, Liu Hong, Zhang Furen, Lu Weiqi, Li Ming, Yao Zhiro |
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TERT promoter mutations and BRAF mutations are rare in sporadic, and TERT promoter mutations are absent in NF1-related malignant peripheral nerve sheath tumors.
Journal of neuro-oncology 2014 Nov 120 (2): 267-72. Dubbink Hendrikus J, Bakels Hannah, Post Edward, Zwarthoff Ellen C, Verdijk Robert |
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The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Genetic testing and molecular biomarkers 2014 Nov 18 (11): 722-35. Maruoka Ryo, Takenouchi Toshiki, Torii Chiharu, Shimizu Atsushi, Misu Kumiko, Higasa Koichiro, Matsuda Fumihiko, Ota Arihito, Tanito Katsumi, Kuramochi Akira, Arima Yoshimi, Otsuka Fujio, Yoshida Yuichi, Moriyama Keiji, Niimura Michihito, Saya Hideyuki, Kosaki Kenji |
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Molecular profiling of soft tissue sarcomas using next-generation sequencing: a pilot study toward precision therapeutics.
Human pathology 2014 Aug 45 (8): 1563-71. Jour George, Scarborough John D, Jones Robin L, Loggers Elizabeth, Pollack Seth M, Pritchard Colin C, Hoch Benjamin |
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A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.
Molecular cancer therapeutics 2014 Jul 13 (7): 1918-28. Xia Junfeng, Jia Peilin, Hutchinson Katherine E, Dahlman Kimberly B, Johnson Douglas, Sosman Jeffrey, Pao William, Zhao Zhongmi |
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Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1352-60. Welander Jenny, Andreasson Adam, Juhlin C Christofer, Wiseman Roger W, Bäckdahl Martin, Höög Anders, Larsson Catharina, Gimm Oliver, Söderkvist Pet |
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A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.
The oncologist 2014 May 19 (5): 453-8. Vasan Neil, Yelensky Roman, Wang Kai, Moulder Stacy, Dzimitrowicz Hannah, Avritscher Rony, Wang Baliang, Wu Yun, Cronin Maureen T, Palmer Gary, Symmans W Fraser, Miller Vincent A, Stephens Philip, Pusztai Laj |
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Unique molecular signatures as a hallmark of patients with metastatic breast cancer: implications for current treatment paradigms.
Oncotarget 2014 May 5 (9): 2349-54. Wheler Jennifer J, Parker Barbara A, Lee Jack J, Atkins Johnique T, Janku Filip, Tsimberidou Apostolia M, Zinner Ralph, Subbiah Vivek, Fu Siqing, Schwab Richard, Moulder Stacy, Valero Vicente, Schwaederle Maria, Yelensky Roman, Miller Vincent A, Stephens M Philip J, Meric-Bernstam Funda, Kurzrock Razel |
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Advanced urothelial carcinoma: next-generation sequencing reveals diverse genomic alterations and targets of therapy.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2014 Feb 27 (2): 271-80. Ross Jeffrey S, Wang Kai, Al-Rohil Rami N, Nazeer Tipu, Sheehan Christine E, Otto Geoff A, He Jie, Palmer Gary, Yelensky Roman, Lipson Doron, Ali Siraj, Balasubramanian Sohail, Curran John A, Garcia Lazlo, Mahoney Kristen, Downing Sean R, Hawryluk Matthew, Miller Vincent A, Stephens Philip |
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Long-term prognosis of patients with pediatric pheochromocytoma.
Endocrine-related cancer 2014 Feb 21 (1): 17-25. Bausch Birke, Wellner Ulrich, Bausch Dirk, Schiavi Francesca, Barontini Marta, Sanso Gabriela, Walz Martin K, Peczkowska Mariola, Weryha Georges, Dall'igna Patrizia, Cecchetto Giovanni, Bisogno Gianni, Moeller Lars C, Bockenhauer Detlef, Patocs Attila, Rácz Karoly, Zabolotnyi Dmitry, Yaremchuk Svetlana, Dzivite-Krisane Iveta, Castinetti Frederic, Taieb David, Malinoc Angelica, von Dobschuetz Ernst, Roessler Jochen, Schmid Kurt W, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
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H3F3A K27M mutations in thalamic gliomas from young adult patients.
Neuro-oncology 2014 Jan 16 (1): 140-6. Aihara Koki, Mukasa Akitake, Gotoh Kengo, Saito Kuniaki, Nagae Genta, Tsuji Shingo, Tatsuno Kenji, Yamamoto Shogo, Takayanagi Shunsaku, Narita Yoshitaka, Shibui Soichiro, Aburatani Hiroyuki, Saito Nobuhi |
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Integrated analysis of germline and somatic variants in ovarian cancer.
Nature communications 2014 5 3156. Kanchi Krishna L, Johnson Kimberly J, Lu Charles, McLellan Michael D, Leiserson Mark D M, Wendl Michael C, Zhang Qunyuan, Koboldt Daniel C, Xie Mingchao, Kandoth Cyriac, McMichael Joshua F, Wyczalkowski Matthew A, Larson David E, Schmidt Heather K, Miller Christopher A, Fulton Robert S, Spellman Paul T, Mardis Elaine R, Druley Todd E, Graubert Timothy A, Goodfellow Paul J, Raphael Benjamin J, Wilson Richard K, Ding |
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The prognostic and predictive value of solid subtype in invasive lung adenocarcinoma.
Scientific reports 2014 4 7163. Zhang Yang, Li Jing, Wang Rui, Li Yuan, Pan Yunjian, Cai Deng, Hu Haichuan, Li Hang, Ye Ting, Luo Xiaoyang, Zhang Yiliang, Li Bin, Shen Lei, Sun Yihua, Chen Haiqu |
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Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.
Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
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NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Human mutation 2013 Nov 34 (11): 1510-8. Sabbagh Audrey, Pasmant Eric, Imbard Apolline, Luscan Armelle, Soares Magali, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanné-Chantelot Christine, Vidaud Dominique, Parfait Béatrice, Wolkenstein Pier |
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BRAF/NRAS wild-type melanomas have a high mutation load correlating with histologic and molecular signatures of UV damage.
Clinical cancer research : an official journal of the American Association for Cancer Research 2013 Sep 19 (17): 4589-98. Mar Victoria J, Wong Stephen Q, Li Jason, Scolyer Richard A, McLean Catriona, Papenfuss Anthony T, Tothill Richard W, Kakavand Hojabr, Mann Graham J, Thompson John F, Behren Andreas, Cebon Jonathan S, Wolfe Rory, Kelly John W, Dobrovic Alexander, McArthur Grant |
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Mutation screening in a Norwegian cohort with pheochromocytoma.
Familial cancer 2013 Sep 12 (3): 529-35. Sjursen Wenche, Halvorsen Henrik, Hofsli Eva, Bachke Siri, Berge Asa, Engebretsen Lars F, Falkmer Sture E, Falkmer Ursula G, Varhaug Jan |
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Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.
Neoplasma 2013 Aug . Bolcekova A, Nemethova M, Zatkova A, Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D |
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Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Nature genetics 2013 Aug 45 (8): 927-32. Jones David T W, Hutter Barbara, Jäger Natalie, Korshunov Andrey, Kool Marcel, Warnatz Hans-Jörg, Zichner Thomas, Lambert Sally R, Ryzhova Marina, Quang Dong Anh Khuong, Fontebasso Adam M, Stütz Adrian M, Hutter Sonja, Zuckermann Marc, Sturm Dominik, Gronych Jan, Lasitschka Bärbel, Schmidt Sabine, Seker-Cin Huriye, Witt Hendrik, Sultan Marc, Ralser Meryem, Northcott Paul A, Hovestadt Volker, Bender Sebastian, Pfaff Elke, Stark Sebastian, Faury Damien, Schwartzentruber Jeremy, Majewski Jacek, Weber Ursula D, Zapatka Marc, Raeder Benjamin, Schlesner Matthias, Worth Catherine L, Bartholomae Cynthia C, von Kalle Christof, Imbusch Charles D, Radomski Sylwester, Lawerenz Chris, van Sluis Peter, Koster Jan, Volckmann Richard, Versteeg Rogier, Lehrach Hans, Monoranu Camelia, Winkler Beate, Unterberg Andreas, Herold-Mende Christel, Milde Till, Kulozik Andreas E, Ebinger Martin, Schuhmann Martin U, Cho Yoon-Jae, Pomeroy Scott L, von Deimling Andreas, Witt Olaf, Taylor Michael D, Wolf Stephan, Karajannis Matthias A, Eberhart Charles G, Scheurlen Wolfram, Hasselblatt Martin, Ligon Keith L, Kieran Mark W, Korbel Jan O, Yaspo Marie-Laure, Brors Benedikt, Felsberg Jörg, Reifenberger Guido, Collins V Peter, Jabado Nada, Eils Roland, Lichter Peter, Pfister Stefan M, |
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Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Pediatric neurology 2013 Jun 48 (6): 447-53. Ko Jung Min, Sohn Young Bae, Jeong Seon Yong, Kim Hyon-Ju, Messiaen Ludwine |
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Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
Annals of surgical oncology 2013 May 20 (5): 1444-50. Fishbein Lauren, Merrill Shana, Fraker Douglas L, Cohen Debbie L, Nathanson Katherine |
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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, |
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Probe-Based Quantitative PCR Assay for Detecting Constitutional and Somatic Deletions in the NF1 Gene: Application to Genetic Testing and Tumor Analysis.
Clinical chemistry 2013 Feb . Terribas E, Garcia-Linares C, Lázaro C, Serra E |
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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 |
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Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.
Genes, chromosomes & cancer 2012 Aug 51 (8): 743-55. Brecqueville Mandy, Rey Jérôme, Bertucci François, Coppin Emilie, Finetti Pascal, Carbuccia Nadine, Cervera Nathalie, Gelsi-Boyer Véronique, Arnoulet Christine, Gisserot Olivier, Verrot Denis, Slama Borhane, Vey Norbert, Mozziconacci Marie-Joelle, Birnbaum Daniel, Murati An |
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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
BMC medical genetics 2012 13 (1): 98. Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildega |
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Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011 Dec 27 (12): 2113-6. Terzi Yunus Kasim, Sirin Burcu, Serdaroglu Esra, Anlar Banu, Aysun Sabiha, Hosgor Guzen, Arslan Elif Acar, Ayter Sukri |
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Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
Blood 2011 Sep 118 (11): 3080-7. Zhang Jinghui, Mullighan Charles G, Harvey Richard C, Wu Gang, Chen Xiang, Edmonson Michael, Buetow Kenneth H, Carroll William L, Chen I-Ming, Devidas Meenakshi, Gerhard Daniela S, Loh Mignon L, Reaman Gregory H, Relling Mary V, Camitta Bruce M, Bowman W Paul, Smith Malcolm A, Willman Cheryl L, Downing James R, Hunger Stephen |
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Integrated genomic analyses of ovarian carcinoma.
Nature 2011 Jun 474 (7353): 609-15. Authors are not available |
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CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia.
Blood 2011 May 117 (21): e198-206. Makishima Hideki, Jankowska Anna M, McDevitt Michael A, O'Keefe Christine, Dujardin Simon, Cazzolli Heather, Przychodzen Bartlomiej, Prince Courtney, Nicoll John, Siddaiah Harish, Shaik Mohammed, Szpurka Hadrian, Hsi Eric, Advani Anjali, Paquette Ronald, Maciejewski Jaroslaw |
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Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Haematologica 2011 Feb 96 (2): 323-7. Casabonne Delphine, Reina Oscar, Benavente Yolanda, Becker Nikolaus, Maynadié Marc, Foretová Lenka, Cocco Pierluigi, González-Neira Anna, Nieters Alexandra, Boffetta Paolo, Middeldorp Jaap M, de Sanjose Silv |
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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Journal of medical genetics 2010 Sep 47 (9): 623-30. Mautner V-F, Kluwe L, Friedrich R E, Roehl A C, Bammert S, Högel J, Spöri H, Cooper D N, Kehrer-Sawatzki |
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