Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 99 Records) |
Query Trace: SMARCB1[original query] |
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Comprehensive Immunohistochemical Study of the SWI/SNF Complex Expression Status in Gastric Cancer Reveals an Adverse Prognosis of SWI/SNF Deficiency in Genomically Stable Gastric Carcinomas. Cancers 2021 8 13 (15): . Glückstein Marie-Isabelle, Dintner Sebastian, Arndt Tim Tobias, Vlasenko Dmytro, Schenkirsch Gerhard, Agaimy Abbas, Müller Gernot, Märkl Bruno, Grosser Bian |
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Genes 2021 7 12 (6): . Vasko Ashley, Drivas Theodore G, Schrier Vergano Samantha |
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. Human mutation 2021 7 42 (10): 1187-1207. Perez-Becerril Cristina, Evans D Gareth, Smith Miriam |
Haplotype-resolved germline and somatic alterations in renal medullary carcinomas. Genome medicine 2021 7 13 (1): 114. Tan Kar-Tong, Kim Hyunji, Carrot-Zhang Jian, Zhang Yuxiang, Kim Won Jun, Kugener Guillaume, Wala Jeremiah A, Howard Thomas P, Chi Yueh-Yun, Beroukhim Rameen, Li Heng, Ha Gavin, Alper Seth L, Perlman Elizabeth J, Mullen Elizabeth A, Hahn William C, Meyerson Matthew, Hong Andrew |
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene. BMC cancer 2021 5 21 (1): 636. Heft Neal Molly E, Birkeland Andrew C, Bhangale Apurva D, Zhai Jingyi, Kulkarni Aditi, Foltin Susan K, Jewell Brittany M, Ludwig Megan L, Pinatti Lisa, Jiang Hui, McHugh Jonathan B, Marentette Lawence, McKean Erin L, Brenner J Ch |
SMARCA4 and Other SWItch/Sucrose NonFermentable Family Genomic Alterations in NSCLC: Clinicopathologic Characteristics and Outcomes to Immune Checkpoint Inhibition. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2021 Apr . Alessi Joao V, Ricciuti Biagio, Spurr Liam F, Gupta Hersh, Li Yvonne Y, Glass Carolyn, Nishino Mizuki, Cherniack Andrew D, Lindsay James, Sharma Bijaya, Felt Kristen D, Rodig Scott J, Cheng Michael L, Sholl Lynette M, Awad Mark |
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
European heart journal 2021 3 42 (20): 2000-2011. Garnier Sophie, Harakalova Magdalena, Weiss Stefan, Mokry Michal, Regitz-Zagrosek Vera, Hengstenberg Christian, Cappola Thomas P, Isnard Richard, Arbustini Eloisa, Cook Stuart A, van Setten Jessica, Calis Jorg J A, Hakonarson Hakon, Morley Michael P, Stark Klaus, Prasad Sanjay K, Li Jin, O'Regan Declan P, Grasso Maurizia, Müller-Nurasyid Martina, Meitinger Thomas, Empana Jean-Philippe, Strauch Konstantin, Waldenberger Melanie, Marguiles Kenneth B, Seidman Christine E, Kararigas Georgios, Meder Benjamin, Haas Jan, Boutouyrie Pierre, Lacolley Patrick, Jouven Xavier, Erdmann Jeanette, Blankenberg Stefan, Wichter Thomas, Ruppert Volker, Tavazzi Luigi, Dubourg Olivier, Roizes Gérard, Dorent Richard, de Groote Pascal, Fauchier Laurent, Trochu Jean-Noël, Aupetit Jean-François, Bilinska Zofia T, Germain Marine, Völker Uwe, Hemerich Daiane, Raji Ibticem, Bacq-Daian Delphine, Proust Carole, Remior Paloma, Gomez-Bueno Manuel, Lehnert Kristin, Maas Renee, Olaso Robert, Saripella Ganapathi Varma, Felix Stephan B, McGinn Steven, Duboscq-Bidot Laëtitia, van Mil Alain, Besse Céline, Fontaine Vincent, Blanché Hélène, Ader Flavie, Keating Brendan, Curjol Angélique, Boland Anne, Komajda Michel, Cambien François, Deleuze Jean-François, Dörr Marcus, Asselbergs Folkert W, Villard Eric, Trégouët David-Alexandre, Charron Philip |
SWI/SNF chromatin remodeling complex alterations in meningioma. Journal of cancer research and clinical oncology 2021 Mar . Gill Corey M, Loewenstern Joshua, Rutland John W, Arib Hanane, Pain Margaret, Umphlett Melissa, Kinoshita Yayoi, McBride Russell B, Bederson Joshua, Donovan Michael, Sebra Robert, Fowkes Mary, Shrivastava Raj |
Broad spectrum mutational analysis of chromophobe renal cell carcinoma using next-generation sequencing. Pathology, research and practice 2021 Feb 219 153350. Mollica Veronica, Franceschini Tania, Gruppioni Elisa, Rizzo Alessandro, Ricci Costantino, Schiavina Riccardo, Brunocilla Eugenio, Ardizzoni Andrea, Fiorentino Michelangelo, Giunchi Francesca, Massari Frances |
Primary cutaneous SMARCB1-deficient carcinoma. Journal of cutaneous pathology 2021 2 48 (8): 1051-1060. Hui Yiang, Cotzia Paolo, Rana Satshil, Kezlarian Brie E, Lin Oscar, Hollmann Travis J, Dogan Snjeza |
Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. Oncology 2021 12 100 (3): 163-172. Fukushima Hiroko, Suzuki Ryoko, Yamaki Yuni, Hosaka Sho, Inaba Masako, Muroi Ai, Tsurubuchi Takao, Morii Wataru, Noguchi Emiko, Takada Hidetos |
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. BMC medical genomics 2021 10 14 (1): 254. Lee Yena, Choi Yunha, Seo Go Hun, Kim Gu-Hwan, Keum Changwon, Kim Yoo-Mi, Do Hyo-Sang, Choi Jeongmin, Choi In Hee, Yoo Han-Wook, Lee Beom H |
Prevalence of SWI/SNF genomic alterations in cancer and association with the response to immune checkpoint inhibitors: A systematic review and meta-analysis. Gene 2022 Aug 834 146638. Wang Nanya, Qin Yong, Du Furong, Wang Xiaoxuan, Song Ch |
Screening of potential novel candidate genes in schwannomatosis patients. Human mutation 2022 Jun . Perez-Becerril Cristina, Wallace Andrew J, Schlecht Helene, Bowers Naomi L, Smith Philip T, Gokhale Carolyn, Eaton Helen, Charlton Chris, Robinson Rachel, Charlton Ruth S, Evans D Gareth, Smith Miriam |
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Human mutation 2022 4 43 (7): 919-927. Deng Fanxuan, Evans D Gareth, Smith Miriam |
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart. Genes, chromosomes & cancer 2022 11 62 (3): 131-138. Agaram Narasimhan P, Wexler Leonard H, Chi Ping, Antonescu Cristina |
SWI/SNF complex gene variations are associated with a higher tumor mutational burden and a better response to immune checkpoint inhibitor treatment: a pan-cancer analysis of next-generation sequencing data corresponding to 4591 cases. Cancer cell international 2022 11 22 (1): 347. Li Yue, Yang Xinhua, Zhu Weijie, Xu Yuxia, Ma Jiangjun, He Caiyun, Wang Fa |
Intraventricular Meningiomas: Clinical-Pathological and Genetic Features of a Monocentric Series. Current oncology (Toronto, Ont.) 2022 Jan 29 (1): 178-185. Ammendola Serena, Simbolo Michele, Ciaparrone Chiara, Rizzo Paola Chiara, Caffo Maria, Pinna Giampietro, Sala Francesco, Scarpa Aldo, Barresi Valer |
Rhabdoid tumors in patients conceived following ART: is there an association? Human reproduction (Oxford, England) 2023 8 . Karolina Nemes, Martin Benesch, Julia Kolarova, Pascal Johann, Martin Hasselblatt, Christian Thomas, Susanne Bens, Selina Glaser, Ole Ammerpohl, Olga Liaugaudiene, Alireza Sadeghipour, Nicolas von der Weid, Irene Schmid, Corrie Gidding, Anat Erdreich-Epstein, Claudia Khurana, Georg Ebetsberger-Dachs, Andreas Lemmer, Ziad Khatib, Carmen Hernández Marqués, Jane Pears, Franz Quehenberger, Uwe Kordes, Christian Vokuhl, Joachim Gerss, Heike Schwarz, Brigitte Bison, Jaclyn A Biegel, Reiner Siebert, Michael C Frühwa |
Myocardial Fibrosis and Cardiomyopathy Risk: A Genetic Link in the MESA. Circulation. Heart failure 2023 8 e010262. Mahsima Shabani, Min Wang, Gregory D Jenkins, Jerome I Rotter, Stephen S Rich, Anthony Batzler, Kent D Taylor, Josyf C Mychaleckyj, Duan Liu, Joao A C Lima, Naveen L Perei |
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. Acta neuropathologica 2023 7 . Pascal D Johann, Lea Altendorf, Emma-Maria Efremova, Till Holsten, Mona Steinbügl, Karolina Nemes, Alicia Eckhardt, Catena Kresbach, Michael Bockmayr, Arend Koch, Christine Haberler, Manila Antonelli, John DeSisto, Martin U Schuhmann, Peter Hauser, Reiner Siebert, Susanne Bens, Marcel Kool, Adam L Green, Martin Hasselblatt, Michael C Frühwald, Ulrich Schüll |
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing. Cureus 2023 6 15 (6): e39818. Mohiuddin M Taher, Najwa A Bantan, Mustafa H Alwalily, Muhammad Saeed, Nuha M Taher, Meriem Bouzidi, Raid A Jastania, Kamal B Balkhoyo |
Loss of Primary Cilia Potentiates BRAF/MAPK Pathway Activation in Rhabdoid Colorectal Carcinoma: A Series of 21 Cases Showing Ciliary Rootlet CoiledCoil (CROCC) Alterations. Genes 2023 5 14 (5): . Andrea Remo, Federica Grillo, Luca Mastracci, Michele Simbolo, Matteo Fassan, Maria Paola Cecchini, Giuseppe Miscio, Antonio Sassano, Paola Parente, Alessandro Vanoli, Giovanna Sabella, Guido Giordano, Emanuele Damiano Urso, Luigi Cerulo, Aldo Scarpa, Francesco Fiorica, Massimo Pancio |
Tazemetostat for Tumors Harboring SMARCB1/SMARCA4 or EZH2 Alterations: Results from NCI-COG Pediatric MATCH APEC1621C. Journal of the National Cancer Institute 2023 5 . Susan N Chi, Joanna S Yi, P Mickey Williams, Sinchita Roy-Chowdhuri, David R Patton, Brent D Coffey, Joel M Reid, Jin Piao, Lauren Saguilig, Todd A Alonzo, Stacey L Berg, Nilsa C Ramirez, Alok Jaju, Joyce C Mhlanga, Elizabeth Fox, Douglas S Hawkins, Margaret M Mooney, Naoko Takebe, James V Tricoli, Katherine A Janeway, Nita L Seibel, D Williams Parso |
Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer. Journal of translational medicine 2023 5 21 (1): 296. Xin Chen, Kaixuan Bai, Yu Zhang, Yang Xu, Yinghao Huo, Sha Wang, Yueli Zou, Xuejiao Qi, Rongyun Guo, Qiuxiang Ou, Dengxiang Liu, Shaohua Yin, Shubo Chen, Hui |
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy. Human genomics 2023 5 17 (1): 43. Nermine H Zakaria, Doaa Hashad, Marwa H Saied, Neamat Hegazy, Alyaa Elkayal, Eman Tay |
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing. Scientific reports 2023 2 13 (1): 2959. Alba-Pavón Piedad, Alaña Lide, Gutierrez-Jimeno Miriam, García-Obregón Susana, Imízcoz Teresa, Panizo Elena, González-Urdiales Paula, Echebarria-Barona Aizpea, Lopez Almaraz Ricardo, Zaldumbide Laura, Astigarraga Itziar, Patiño-García Ana, Villate Ola |
SMARCA4?deficient non?small cell lung cancer with an EGFR mutation: A case report. Oncology letters 2023 11 26 (6): 513. Lijun Sun, Qiong Fu, Lijiang Chen, Meijuan Di, Jianhua C |
Outcomes of Patients Treated for Hepatoblastoma with Low Alpha-Fetoprotein and/or Small Cell Undifferentiated Histology: A Report from the Children's Hepatic Tumors International Collaboration (CHIC). Cancers 2023 1 15 (2): . Trobaugh-Lotrario Angela D, Maibach Rudolf, Aronson Daniel C, Rangaswami Arun, Häberle Beate, O'Neill Allison F, Schmid Irene, Ansari Marc, Hishiki Tomoro, Ranganathan Sarangarajan, Alaggio Rita, de Krijger Ronald R, Tanaka Yukichi, Cho Soo-Jin, Vokuhl Christian, Maxwell Rebecca, Krailo Mark, Hiyama Eiso, Czauderna Piotr, Finegold Milton, Feusner James H, Malogolowkin Marcio H, Meyers Rebecka L, Lopez-Terrada Dolor |
Chromosome 3p gene alterations as biomarkers for immunocombinations in metastatic renal cell carcinoma: A hypothesis-generating analysis. Pathology, research and practice 2024 1 254 155142. Matteo Rosellini, Veronica Mollica, Andrea Marchetti, Sara Coluccelli, Francesca Giunchi, Elisa Tassinari, Costantino Ricci, Michelangelo Fiorentino, Giovanni Tallini, Dario De Biase, Francesco Massa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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