Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: SMARCA2[original query] |
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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Human mutation 2013 Nov 34 (11): 1519-28. Santen Gijs W E, Aten Emmelien, Vulto-van Silfhout Anneke T, Pottinger Caroline, van Bon Bregje W M, van Minderhout Ivonne J H M, Snowdowne Ronelle, van der Lans Christian A C, Boogaard Merel, Linssen Margot M L, Vijfhuizen Linda, van der Wielen Michiel J R, Vollebregt M J Ellen, , Breuning Martijn H, Kriek Marjolein, van Haeringen Arie, den Dunnen Johan T, Hoischen Alexander, Clayton-Smith Jill, de Vries Bert B A, Hennekam Raoul C M, van Belzen Martine |
The mutational landscape of adenoid cystic carcinoma. Nature genetics 2013 Jul 45 (7): 791-8. Ho Allen S, Kannan Kasthuri, Roy David M, Morris Luc G T, Ganly Ian, Katabi Nora, Ramaswami Deepa, Walsh Logan A, Eng Stephanie, Huse Jason T, Zhang Jianan, Dolgalev Igor, Huberman Kety, Heguy Adriana, Viale Agnes, Drobnjak Marija, Leversha Margaret A, Rice Christine E, Singh Bhuvanesh, Iyer N Gopalakrishna, Leemans C Rene, Bloemena Elisabeth, Ferris Robert L, Seethala Raja R, Gross Benjamin E, Liang Yupu, Sinha Rileen, Peng Luke, Raphael Benjamin J, Turcan Sevin, Gong Yongxing, Schultz Nikolaus, Kim Seungwon, Chiosea Simion, Shah Jatin P, Sander Chris, Lee William, Chan Timothy |
Phenotype and genotype in Nicolaides-Baraitser syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2014 Sep 166C (3): 302-14. Sousa Sérgio B, Hennekam Raoul C, |
Distinct genotype-dependent differences in transcriptome responses in humans exposed to environmental carcinogens. Carcinogenesis 2015 Aug . Espín-Pérez Almudena, de Kok Theo M C M, Jennen Danyel G J, Hendrickx Diana M, De Coster Sam, Schoeters Greet, Baeyens Willy, van Larebeke Nicolas, Kleinjans Jos C |
Association analysis identifies new risk loci for congenital heart disease in Chinese populations. Nature communications 2015 6 8082. Lin Yuan, Guo Xuejiang, Zhao Bijun, Liu Juanjuan, Da Min, Wen Yang, Hu Yuanli, Ni Bixian, Zhang Kai, Yang Shiwei, Xu Jing, Dai Juncheng, Wang Xiaowei, Xia Yankai, Ma Hongxia, Jin Guangfu, Yu Shiqiang, Liu Jiayin, Keavney Bernard D, Goodship Judith A, Cordell Heather J, Wang Xinru, Shen Hongbing, Sha Jiahao, Zhou Zuomin, Chen Yijiang, Mo Xuming, Luo Lingfei, Hu Zhib |
A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.
Molecular neurobiology 2015 Jul . Hu Yakun, Deng Libing, Zhang Jie, Fang Xin, Mei Puming, Cao Xuebing, Lin Jiari, Wei Yi, Zhang Xiong, Xu Rens |
Molecular alterations of coexisting thyroid papillary carcinoma and anaplastic carcinoma: identification of TERT mutation as an independent risk factor for transformation. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 11 30 (11): 1527-1537. Oishi Naoki, Kondo Tetsuo, Ebina Aya, Sato Yukiko, Akaishi Junko, Hino Rumi, Yamamoto Noriko, Mochizuki Kunio, Nakazawa Tadao, Yokomichi Hiroshi, Ito Koichi, Ishikawa Yuichi, Katoh Ryoh |
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.
Cell 2017 Nov 171 (6): 1340-1353.e14. Martin Alicia R, Lin Meng, Granka Julie M, Myrick Justin W, Liu Xiaomin, Sockell Alexandra, Atkinson Elizabeth G, Werely Cedric J, Möller Marlo, Sandhu Manjinder S, Kingsley David M, Hoal Eileen G, Liu Xiao, Daly Mark J, Feldman Marcus W, Gignoux Christopher R, Bustamante Carlos D, Henn Brenna |
SWI/SNF subunit expression heterogeneity in human aplastic anemia stem/progenitors. Experimental hematology 2018 3 62 39-44.e2. Sinha Sayantani, Chatterjee Shankha Subhra, Biswas Mayukh, Nag Arijit, Banerjee Debasis, De Rajib, Sengupta Amita |
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 2019 Sep . Sekiguchi Futoshi, Tsurusaki Yoshinori, Okamoto Nobuhiko, Teik Keng Wee, Mizuno Seiji, Suzumura Hiroshi, Isidor Bertrand, Ong Winnie Peitee, Haniffa Muzhirah, White Susan M, Matsuo Mari, Saito Kayoko, Phadke Shubha, Kosho Tomoki, Yap Patrick, Goyal Manisha, Clarke Lorne A, Sachdev Rani, McGillivray George, Leventer Richard J, Patel Chirag, Yamagata Takanori, Osaka Hitoshi, Hisaeda Yoshiya, Ohashi Hirofumi, Shimizu Kenji, Nagasaki Keisuke, Hamada Junpei, Dateki Sumito, Sato Takashi, Chinen Yasutsugu, Awaya Tomonari, Kato Takeo, Iwanaga Kougoro, Kawai Masahiko, Matsuoka Takashi, Shimoji Yoshikazu, Tan Tiong Yang, Kapoor Seema, Gregersen Nerine, Rossi Massimiliano, Marie-Laure Mathieu, McGregor Lesley, Oishi Kimihiko, Mehta Lakshmi, Gillies Greta, Lockhart Paul J, Pope Kate, Shukla Anju, Girisha Katta Mohan, Abdel-Salam Ghada M H, Mowat David, Coman David, Kim Ok Hwa, Cordier Marie-Pierre, Gibson Kate, Milunsky Jeff, Liebelt Jan, Cox Helen, El Chehadeh Salima, Toutain Annick, Saida Ken, Aoi Hiromi, Minase Gaku, Tsuchida Naomi, Iwama Kazuhiro, Uchiyama Yuri, Suzuki Toshifumi, Hamanaka Kohei, Azuma Yoshiteru, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Takata Atsushi, Mitsuhashi Satomi, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomic |
Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy. Experimental dermatology 2019 Jun . Petukhova Lynn, Patel Aakash V, Rigo Rachel K, Bian Li, Verbitsky Miguel, Sanna-Cherchi Simone, Erjavec Stephanie O, Abdelaziz Alexa R, Cerise Jane E, Jabbari Ali, Christiano Angela |
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas. Neuro-oncology 2019 2 21 (8): 981-992. Pemov Alexander, Hansen Nancy F, Sindiri Sivasish, Patidar Rajesh, Higham Christine S, Dombi Eva, Miettinen Markku M, Fetsch Patricia, Brems Hilde, Chandrasekharappa Settara C, Jones Kristine, Zhu Bin, Wei Jun S, , , Mullikin James C, Wallace Margaret R, Khan Javed, Legius Eric, Widemann Brigitte C, Stewart Douglas |
The clinicopathological and molecular analysis of gastric cancer with altered SMARCA4 expression. Histopathology 2020 4 77 (2): 250-261. Huang Shih-Chiang, Ng Kwai-Fong, Yeh Ta-Sen, Cheng Chi-Tung, Chen Min-Chi, Chao Yi-Chun, Chuang Huei-Chieh, Liu Yu-Jen, Chen Tse-Chi |
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Feb 37 (2): 147-149. Ma Yanyan, Yu Chunmei, Zhang Kaihui, Jin Ruifeng, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu |
AATF and SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients.
Scientific reports 2020 02 10 (1): 1754. Br?i? Luka, Bari? Ana, Benzon Benjamin, Brekalo Marko, Gra?an Sanda, Kali?anin Dean, Škrabi? Veselin, Zemunik Tatijana, Barbali? Maja, Novak Ivana, Pešuti? Pisac Valdi, Punda Ante, Boraska Perica Ves |
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients. Nature communications 2020 11 11 (1): 5551. Fernando Tharu M, Piskol Robert, Bainer Russell, Sokol Ethan S, Trabucco Sally E, Zhang Qing, Trinh Huong, Maund Sophia, Kschonsak Marc, Chaudhuri Subhra, Modrusan Zora, Januario Thomas, Yauch Robert |
SWI/SNF Alterations in Squamous Bladder Cancers. Genes 2020 11 11 (11): . Achenbach Fabian, Rose Michael, Ortiz-Brüchle Nadina, Seillier Lancelot, Knüchel Ruth, Weyerer Veronika, Hartmann Arndt, Morsch Ronja, Maurer Angela, Ecke Thorsten H, Garczyk Stefan, Gaisa Nadine |
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion. Cardiology in the young 2021 9 32 (5): 821-823. Foley Ross, Duignan Sophie, McArdle Linda, Betts David R, Green Andrew, McMahon Colin |
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 |
CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies. PloS one 2021 12 16 (12): e0261002. Valori Miko, Jansson Lilja, Tienari Pentti |
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 |
Sporadic Parkinson's Disease Potential Risk Loci Identified in Han Ancestry of Chinese Mainland. Frontiers in aging neuroscience 2020 12 603793. Wang Bo, Liu Xin, Xu Shengyuan, Liu Zheng, Zhu Yu, Zhang Xiong, Xu Rens |
The clinicopathological significance of SWI/SNF alterations in gastric cancer is associated with the molecular subtypes. PloS one 2021 16 (1): e0245356. Huang Shih-Chiang, Ng Kwai-Fong, Chang Ian Yi-Feng, Chang Chee-Jen, Chao Yi-Chun, Chang Shu-Chen, Chen Min-Chi, Yeh Ta-Sen, Chen Tse-Chi |
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 |
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population. International review of psychiatry (Abingdon, England) 2022 Feb 34 (2): 154-167. Lo Tzuyao, Kushima Itaru, Aleksic Branko, Kato Hidekazu, Nawa Yoshihiro, Hayashi Yu, Otgonbayar Gantsooj, Kimura Hiroki, Arioka Yuko, Mori Daisuke, Ozaki Nor |
Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse. NPJ precision oncology 2023 9 7 (1): 96. Henry de Traux de Wardin, Josephine K Dermawan, Marie-Sophie Merlin, Leonard H Wexler, Daniel Orbach, Fabio Vanoli, Gudrun Schleiermacher, Birgit Geoerger, Stelly Ballet, Delphine Guillemot, Eléonore Frouin, Stacy Cyrille, Olivier Delattre, Gaelle Pierron, Cristina R Antones |
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis. Scientific reports 2023 3 13 (1): 4193. Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fa |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine 2023 12 99 104928. Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen |
Lung cancer presenting with central nervous system metastasis: Clinicopathological and molecular analysis of 171 cases. Annals of diagnostic pathology 2023 1 63 152082. Demleitner Madeleine, Erlenbach-Wünsch Katharina, Coras Roland, Erber Ramona, Polifka Iris, Eyüpo?lu Ilker, Fuchs Florian, Hartmann Arndt, Agaimy Abb |
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- Page last updated:Apr 16, 2024
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