Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Syndrome and TCF12[original query] |
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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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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