Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: TCF12[original query] |
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Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms. Leukemia 2014 May 28 (5): 1052-9. Tenedini E, Bernardis I, Artusi V, Artuso L, Roncaglia E, Guglielmelli P, Pieri L, Bogani C, Biamonte F, Rotunno G, Mannarelli C, Bianchi E, Pancrazzi A, Fanelli T, Malagoli Tagliazucchi G, Ferrari S, Manfredini R, Vannucchi A M, Tagliafico E, |
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nature genetics 2013 Jan . Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. European journal of human genetics : EJHG 2015 Jul 23 (7): 907-14. Paumard-Hernández Beatriz, Berges-Soria Julia, Barroso Eva, Rivera-Pedroza Carlos I, Pérez-Carrizosa Virginia, Benito-Sanz Sara, López-Messa Eva, Santos Fernando, García-Recuero Ignacio I, Romance Ana, Ballesta-Martínez Juliana María, López-González Vanesa, Campos-Barros Ángel, Cruz Jaime, Guillén-Navarro Encarna, Sánchez Del Pozo Jaime, Lapunzina Pablo, García-Miñaur Sixto, Heath Karen |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genetics in medicine : official journal of the American College of Medical Genetics 2017 12 20 (9): 1061-1068. Lee Eric, Le Trang, Zhu Ying, Elakis George, Turner Anne, Lo William, Venselaar Hanka, Verrenkamp Carol-Ann, Snow Nicole, Mowat David, Kirk Edwin Philip, Sachdev Rani, Smith Janine, Brown Natasha Jane, Wallis Mathew, Barnett Chris, McKenzie Fiona, Freckmann Mary-Louise, Collins Felicity, Chopra Maya, Gregersen Nerine, Hayes Ian, Rajagopalan Sulekha, Tan Tiong Yang, Stark Zornitza, Savarirayan Ravi, Yeung Alison, Adès Lesley, Gattas Michael, Gibson Kate, Gabbett Michael, Amor David John, Lattanzi Wanda, Boyd Simeon, Haan Eric, Gianoutsos Mark, Cox Timothy Chilton, Buckley Michael Francis, Roscioli To |
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. Human genome variation 2018 7 5 14. Timberlake Andrew T, Wu Robin, Nelson-Williams Carol, Furey Charuta G, Hildebrand Kristi I, Elton Scott W, Wood Jeyhan S, Persing John A, Lifton Richard |
Molecular and clinical analysis of Chinese patients with anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer. Cancer science 2019 8 110 (10): 3382-3390. Zhou Xiaoyun, Shou Jiawei, Sheng Jin, Xu Chunwei, Ren Shengxiang, Cai Xiuyu, Chu Qian, Wang Wenxian, Zhen Qinhong, Zhou Yuefen, Li Wenfeng, Pan Hong, Li Hongsen, Sun Tao, Cheng Huanqing, Wang Huina, Lou Feng, Rao Chuangzhou, Cao Shanbo, Pan Hongming, Fang Yo |
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey. American journal of medical genetics. Part A 2019 Jul . Yilmaz Elanur, Mihci Ercan, Nur Banu, Alper Ozgul |
lncRNA-PCAT1 rs2632159 polymorphism could be a biomarker for colorectal cancer susceptibility. Bioscience reports 2019 6 39 (7): . Yang Ming-Li, Huang Zhe, Wu Li-Na, Wu Rong, Ding Han-Xi, Wang Ben-Ga |
Haplotype-based genome-wide association studies for carcass and growth traits in chicken. Poultry science 2020 5 99 (5): 2349-2361. Zhang Hui, Shen Lin-Yong, Xu Zi-Chun, Kramer Luke M, Yu Jia-Qiang, Zhang Xin-Yang, Na Wei, Yang Li-Li, Cao Zhi-Ping, Luan Peng, Reecy James M, Li H |
Identification of new candidate genes and signalling pathways associated with the development of neuroendocrine pancreatic tumours based on next generation sequencing data. Molecular biology reports 2020 5 47 (6): 4233-4243. Kit Oleg I, Trifanov Vladimir S, Petrusenko Nataliya A, Gvaldin Dmitry Y, Kutilin Denis S, Timoshkina Nataliya |
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA cardiology 2020 Oct . Morton Sarah U, Shimamura Akiko, Newburger Peter E, Opotowsky Alexander R, Quiat Daniel, Pereira Alexandre C, Jin Sheng Chih, Gurvitz Michelle, Brueckner Martina, Chung Wendy K, Shen Yufeng, Bernstein Daniel, Gelb Bruce D, Giardini Alessandro, Goldmuntz Elizabeth, Kim Richard W, Lifton Richard P, Porter George A, Srivastava Deepak, Tristani-Firouzi Martin, Newburger Jane W, Seidman J G, Seidman Christine |
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 2020 10 11 (1): 4932. Wang Tianyun, Hoekzema Kendra, Vecchio Davide, Wu Huidan, Sulovari Arvis, Coe Bradley P, Gillentine Madelyn A, Wilfert Amy B, Perez-Jurado Luis A, Kvarnung Malin, Sleyp Yoeri, Earl Rachel K, Rosenfeld Jill A, Geisheker Madeleine R, Han Lin, Du Bing, Barnett Chris, Thompson Elizabeth, Shaw Marie, Carroll Renee, Friend Kathryn, Catford Rachael, Palmer Elizabeth E, Zou Xiaobing, Ou Jianjun, Li Honghui, Guo Hui, Gerdts Jennifer, Avola Emanuela, Calabrese Giuseppe, Elia Maurizio, Greco Donatella, Lindstrand Anna, Nordgren Ann, Anderlid Britt-Marie, Vandeweyer Geert, Van Dijck Anke, Van der Aa Nathalie, McKenna Brooke, Hancarova Miroslava, Bendova Sarka, Havlovicova Marketa, Malerba Giovanni, Bernardina Bernardo Dalla, Muglia Pierandrea, van Haeringen Arie, Hoffer Mariette J V, Franke Barbara, Cappuccio Gerarda, Delatycki Martin, Lockhart Paul J, Manning Melanie A, Liu Pengfei, Scheffer Ingrid E, Brunetti-Pierri Nicola, Rommelse Nanda, Amaral David G, Santen Gijs W E, Trabetti Elisabetta, Sedlá?ek Zden?k, Michaelson Jacob J, Pierce Karen, Courchesne Eric, Kooy R Frank, , Nordenskjöld Magnus, Romano Corrado, Peeters Hilde, Bernier Raphael A, Gecz Jozef, Xia Kun, Eichler Evan |
USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631. Human mutation 2020 10 42 (1): 37-49. Ye Weiyuan, Wang Ya, Hou Sasa, Mei Bing, Liu Xinhong, Huang Han, Zhou Qian, Niu Yajing, Chen Yuanyuan, Zhang Manling, Huang Qingya |
Association of growth hormone receptor gene variant with longevity in men is due to amelioration of increased mortality risk from hypertension. Aging 2021 Jun 13 . Donlon Timothy A, Chen Randi, Masaki Kamal H, Willcox D Craig, Allsopp Richard C, Willcox Bradley J, Morris Brian |
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia. Frontiers in pediatrics 2021 5 9 582816. Alghamdi Malak, Alhumsi Taghreed R, Altweijri Ikhlass, Alkhamis Waleed H, Barasain Omar, Cardona-Londoño Kelly J, Ramakrishnan Reshmi, Guzmán-Vega Francisco J, Arold Stefan T, Ali Ghaida, Adly Nouran, Ali Hebatallah, Basudan Ahmed, Bakhrebah Muhammed |
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. The Journal of craniofacial surgery 2021 4 32 (Suppl 3): 1263-1268. Kennedy-Williams Patrick, Care Helen, Dalton Louise, Horton Jo, Kearney Anna, Rooney Natasha, Hotton Matthew, Pinckston Molly, Huggons Esme, Culshaw Laura, Kilcoyne Sarah, Johnson David, Wilkie Andrew O M, Wall Stev |
Discussion on Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. The Journal of craniofacial surgery 2021 2 32 (Suppl 3): 1269. Persing John |
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- Page last updated:Apr 29, 2024
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