Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Syndrome and SMARCB1[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, |
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. Cancer genetics 2014 Sep 207 (9): 373-8. Smith Miriam J, Wallace Andrew J, Bowers Naomi L, Eaton Helen, Evans D Gareth |
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults. JAMA neurology 2017 8 74 (9): 1123-1129. Pathmanaban Omar N, Sadler Katherine V, Kamaly-Asl Ian D, King Andrew T, Rutherford Scott A, Hammerbeck-Ward Charlotte, McCabe Martin G, Kilday John-Paul, Beetz Christian, Poplawski Nicola K, Evans D Gareth, Smith Miriam |
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma. Journal of neuro-oncology 2017 12 137 (1): 33-38. Paganini Irene, Capone Gabriele Lorenzo, Vitte Jeremie, Sestini Roberta, Putignano Anna Laura, Giovannini Marco, Papi Lau |
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. European journal of human genetics : EJHG 2018 5 26 (8): 1083-1093. Holsten Till, Bens Susanne, Oyen Florian, Nemes Karolina, Hasselblatt Martin, Kordes Uwe, Siebert Reiner, Frühwald Michael C, Schneppenheim Reinhard, Schüller Ulri |
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 |
Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort. International journal of cancer 2020 Nov . Aparicio Thomas, Svrcek Magali, Henriques Julie, Afchain Pauline, Lièvre Astrid, Tougeron David, Gagniere Johan, Terrebonne Eric, Piessen Guillaume, Legoux Jean-Louis, Lecaille Cédric, Pocard Marc, Gornet Jean-Marc, Zaanan Aziz, Lavau-Denes Sandrine, Lecomte Thierry, Deutsch David, Vernerey Dewi, Puig Pierre Laure |
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Genes 2021 7 12 (6): . Vasko Ashley, Drivas Theodore G, Schrier Vergano Samantha |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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