Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and ARID1B[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, |
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 |
Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO). International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2018 Aug . Mirkovic Jelena, Dong Fei, Sholl Lynette M, Garcia Elizabeth, Lindeman Neal, MacConaill Laura, Crum Christopher P, Nucci Marisa R, McCluggage W Glenn, Howitt Brooke |
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 |
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene. Journal of the neurological sciences 2020 4 414 116819. Lian Sophie, Ting Teck Wah, Lai Angeline H M, Tan Ee-Shien, Wei Heming, Cham Breana, Tan Ene-Ch |
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of medical genetics 2020 4 57 (7): 466-474. Chevarin Martin, Duffourd Yannis, A Barnard Rebecca, Moutton Sébastien, Lecoquierre François, Daoud Fatma, Kuentz Paul, Cabret Caroline, Thevenon Julien, Gautier Elodie, Callier Patrick, St-Onge Judith, Jouan Thibaud, Lacombe Didier, Delrue Marie Ange, Goizet Cyril, Morice-Picard Fanny, Van-Gils Julien, Munnich Arnold, Lyonnet Stanislas, Cormier-Daire Valérie, Baujat Geneviève, Holder Muriel, Petit Florence, Leheup Bruno, Odent Sylvie, Jouk Pierre-Simon, Lopez Gipsy, Geneviève David, Collignon Patrick, Martin-Coignard Dominique, Jacquette Aurélia, Perrin Laurence, Putoux Audrey, Sarrazin Elisabeth, Amarof Khadija, Missotte Isabelle, Coubes Christine, Jagadeesh Sujatha, Lapi Elisabetta, Demurger Florence, Goldenberg Alice, Doco-Fenzy Martine, Mignot Cyril, Héron Delphine, Jean-Marçais Nolwenn, Masurel Alice, El Chehadeh Salima, Marle Nathalie, Huet Frédéric, Binquet Christine, Collod-Beroud Gwenaëlle, Arnaud Pauline, Hanna Nadine, Boileau Catherine, Jondeau Guillaume, Olaso Robert, Lechner Doris, Poe Charlotte, Assoum Mirna, Carmignac Virginie, Duplomb Laurence, Tran Mau-Them Frédéric, Philippe Christophe, Vitobello Antonio, Bruel Ange-Line, Boland Anne, Deleuze Jean-François, Thauvin-Robinet Christel, Rivière Jean-Baptiste, O'Roak Brian J, Faivre Lauren |
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Genes 2021 7 12 (6): . Vasko Ashley, Drivas Theodore G, Schrier Vergano Samantha |
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 |
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 282-285. Xiang Yanbao, Wan Ru, Li Huanzheng, Xu Chenyang, Xu Yunzhi, Tang Shaoh |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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