Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and TWIST1[original query] |
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Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. American journal of medical genetics. Part C, Seminars in medical genetics 2013 Nov 163C (4): 259-70. Roscioli T, Elakis G, Cox T C, Moon D J, Venselaar H, Turner A M, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk E P, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann M-L, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès L C, Collins F A, Wilson M J, Savarirayan R, Tan T Y, Amor D J, McGillivray G, White S M, Glass I A, David D J, Anderson P J, Gianoutsos M, Buckley M |
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 |
Clinical and genetic characteristics of craniosynostosis in Hungary. American journal of medical genetics. Part A 2015 Aug . Bessenyei Beáta, Nagy Andrea, Szakszon Katalin, Mokánszki Attila, Balogh Erzsébet, Ujfalusi Anikó, Tihanyi Mariann, Novák László, Bognár László, Oláh É |
Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes. AJNR. American journal of neuroradiology 2015 Aug 36 (8): 1558-64. Rijken B F M, Leemans A, Lucas Y, van Montfort K, Mathijssen I M J, Lequin M |
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 |
Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome. The Journal of craniofacial surgery 2019 7 30 (5): 1506-1511. Kilcoyne Sarah, Luscombe Carrie, Scully Paula, Jayamohan Jayaratnam, Magdum Shailendra, Wall Steven, Johnson David, Wilkie Andrew O |
Nonsyndromic craniosynostosis: novel coding variants. Pediatric research 2019 1 85 (4): 463-468. Sewda Anshuman, White Sierra R, Erazo Monica, Hao Ke, García-Fructuoso Gemma, Fernández-Rodriguez Ivette, Heuzé Yann, Richtsmeier Joan T, Romitti Paul A, Reva Boris, Jabs Ethylin Wang, Peter In |
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- Page last updated:Apr 22, 2024
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