HuGE Literature Finder
Records 1-6
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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 |
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Targeted Next Generation Sequencing Analysis of 1000 Individuals with Intellectual Disability.
Human mutation 2015 Sep . Grozeva Detelina, Carss Keren, Spasic-Boskovic Olivera, Tejada Maria-Isabel, Gecz Jozef, Shaw Marie, Corbett Mark, Haan Eric, Thompson Elizabeth, Friend Kathryn, Hussain Zaamin, Hackett Anna, Field Michael, Renieri Alessandra, Stevenson Roger, Schwartz Charles, Floyd James A B, Bentham Jamie, Cosgrove Catherine, Keavney Bernard, Bhattacharya Shoumo, , , , Hurles Matthew, Raymond F Lu |
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De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
BMC genomics 2015 16 (1): 701. Yu Yongguo, Yao RuEn, Wang Lili, Fan Yanjie, Huang Xiaodong, Hirschhorn Joel, Dauber Andrew, Shen Yipi |
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De novo mutations in moderate or severe intellectual disability.
PLoS genetics 2014 Oct 10 (10): e1004772. Hamdan Fadi F, Srour Myriam, Capo-Chichi Jose-Mario, Daoud Hussein, Nassif Christina, Patry Lysanne, Massicotte Christine, Ambalavanan Amirthagowri, Spiegelman Dan, Diallo Ousmane, Henrion Edouard, Dionne-Laporte Alexandre, Fougerat Anne, Pshezhetsky Alexey V, Venkateswaran Sunita, Rouleau Guy A, Michaud Jacques |
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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, |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Dec 04, 2020
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