Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and ARID1A[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 |
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. American journal of medical genetics. Part C, Seminars in medical genetics 2014 Sep 166C (3): 262-75. Kosho Tomoki, Okamoto Nobuhiko, |
Loss of ARID1A expression in colorectal carcinoma is strongly associated with mismatch repair deficiency. Human pathology 2014 Aug 45 (8): 1697-703. Chou Angela, Toon Christopher W, Clarkson Adele, Sioson Loretta, Houang Michelle, Watson Nicole, DeSilva Keshani, Gill Anthony |
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations. Oncotarget 2018 1 8 (64): 108020-108030. Porkka Noora, Valo Satu, Nieminen Taina T, Olkinuora Alisa, Mäki-Nevala Satu, Eldfors Samuli, Peltomäki Päi |
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 1 24 (7): 1594-1603. Diets Illja J, Waanders Esmé, Ligtenberg Marjolijn J, van Bladel Diede A G, Kamping Eveline J, Hoogerbrugge Peter M, Hopman Saskia, Olderode-Berends Maran J, Gerkes Erica H, Koolen David A, Marcelis Carlo, Santen Gijs W, van Belzen Martine J, Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, van Silfhout Anneke Vulto-, Gardeitchik Thatjana, de Bont Eveline S, Loeffen Jan, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans Marjolijn |
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 |
Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO precision oncology 2019 3 2018 . Donahu Timothy F, Bagrodia Aditya, Audenet François, Donoghue Mark T A, Cha Eugene K, Sfakianos John P, Sperling Dahlia, Al-Ahmadie Hikmat, Clendenning Mark, Rosty Christophe, Buchanan Daniel D, Jenkins Mark, Hopper John, Winship Ingrid, Templeton Allyson S, Walsh Michael F, Stadler Zsofia K, Iyer Gopa, Taylor Barry, Coleman Jonathan, Lindor Noralane M, Solit David B, Bochner Bernard |
The role of nesfatin and selected molecular factors in various types of endometrial cancer. Ginekologia polska 2019 11 90 (10): 571-576. Markowska Anna, Szarszewska Monika, Knapp Pawel, Grybos Anna, Grybos Marian, Marszalek Andrzej, Filas Violetta, Wojcik-Krowiranda Katarzyna, Swornik Malgorzata, Markowska Jani |
Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences. The American journal of surgical pathology 2020 4 44 (5): 649-656. Leskela Susanna, Romero Ignacio, Cristobal Eva, Pérez-Mies Belén, Rosa-Rosa Juan M, Gutierrez-Pecharroman Ana, Caniego-Casas Tamara, Santón Almudena, Ojeda Belén, López-Reig Raquel, Palacios-Berraquero María L, García Ángel, Ibarra Javier, Hakim Sofía, Guarch Rosa, López-Guerrero José A, Poveda Andrés, Palacios Jo |
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Genes 2021 7 12 (6): . Vasko Ashley, Drivas Theodore G, Schrier Vergano Samantha |
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma". European journal of medical genetics 2022 Aug 65 (11): 104600. Cárcamo Benjamín, Masotto Barbara, Baquero-Vaquer Anna, Ceballos-Saenz Delia, Zapata-Aldana Eugen |
Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers. Annals of surgical oncology 2022 2 29 (6): 3578-3590. Huang Chi-Cheng, Tsai Yi-Fang, Liu Chun-Yu, Lien Pei-Ju, Lin Yen-Shu, Chao Ta-Chung, Feng Chin-Jung, Chen Yen-Jen, Lai Jiun-I, Phan Nam Nhut, Hsu Chih-Yi, Chiu Jen-Hwey, Tseng Ling-Mi |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
Molecular Features of HHV8 Monoclonal Microlymphoma Associated with Kaposi Sarcoma and Multicentric Castleman Disease in an HIV-Negative Patient. International journal of molecular sciences 2024 4 25 (7): . Evelina Rogges, Sabrina Pelliccia, Camilla Savio, Gianluca Lopez, Irene Della Starza, Giacinto La Verde, Arianna Di Napo |
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