OBO ID: DOID:4621

Citations

(4 total)

Term: holoprosencephaly

Periyasamy, S., John, S., Padmavati, R., Rajendren, P., Thirunavukkarasu, P., Gratten, J., Vinkhuyzen, A., McRae, A., Holliday, E.G., Nyholt, D.R., Nancarrow, D., Bakshi, A., Hemani, G., Nertney, D., Smith, H., Filippich, C., Patel, K., Fowdar, J., McLean, D., Tirupati, S., Nagasundaram, A., Gundugurti, P.R., Selvaraj, K., Jegadeesan, J., Jorde, L.B., Wray, N.R., Brown, M.A., Suetani, R., Giacomotto, J., Thara, R., Mowry, B.J. (2019) Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. JAMA psychiatry. 76(10):1026-1034

Hong, S., Hu, P., Roessler, E., Hu, T., Muenke, M. (2018) Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly. Human molecular genetics. 27(11):1989-1998

Hong, S., Hu, P., Marino, J., Hufnagel, S.B., Hopkin, R.J., Toromanović, A., Richieri-Costa, A., Ribeiro-Bicudo, L.A., Kruszka, P., Roessler, E., Muenke, M. (2016) Dominant-negative Kinase Domain Mutations in FGFR1 Can Explain the Clinical Severity of Hartsfield Syndrome. Human molecular genetics. 25(10):1912-1922

Gongal, P.A., and Waskiewicz, A.J. (2008) Zebrafish model of Holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism. Human molecular genetics. 17(4):525-538