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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Alsina Casanova M, Monteagudo-Sánchez A, Rodiguez Guerineau L, Court F, Gazquez Serrano I, Martorell L, Rovira Zurriaga C, Moore GE, Ishida M, Castañon M, Moliner Calderon E, Monk D, Moreno Hernando J. Alsina Casanova M, et al. Among authors: ishida m. Hum Mutat. 2017 Jun;38(6):615-620. doi: 10.1002/humu.23213. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28256047
The role of imprinted genes in humans.
Ishida M, Moore GE. Ishida M, et al. Mol Aspects Med. 2013 Jul-Aug;34(4):826-40. doi: 10.1016/j.mam.2012.06.009. Epub 2012 Jul 4. Mol Aspects Med. 2013. PMID: 22771538 Free article. Review.
The speech gene FOXP2 is not imprinted.
Thomas AC, Frost JM, Ishida M, Vargha-Khadem F, Moore GE, Stanier P. Thomas AC, et al. Among authors: ishida m. J Med Genet. 2012 Nov;49(11):669-70. doi: 10.1136/jmedgenet-2012-101242. Epub 2012 Oct 2. J Med Genet. 2012. PMID: 23033221 No abstract available.
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Among authors: ishida m. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
Demetriou C, Abu-Amero S, Thomas AC, Ishida M, Aggarwal R, Al-Olabi L, Leon LJ, Stafford JL, Syngelaki A, Peebles D, Nicolaides KH, Regan L, Stanier P, Moore GE. Demetriou C, et al. Among authors: ishida m. PLoS One. 2014 Jan 15;9(1):e85454. doi: 10.1371/journal.pone.0085454. eCollection 2014. PLoS One. 2014. PMID: 24454871 Free PMC article.
Genome-wide methylation analysis in Silver-Russell syndrome patients.
Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ. Prickett AR, et al. Among authors: ishida m. Hum Genet. 2015 Mar;134(3):317-332. doi: 10.1007/s00439-014-1526-1. Epub 2015 Jan 7. Hum Genet. 2015. PMID: 25563730 Free PMC article.
The role and interaction of imprinted genes in human fetal growth.
Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P. Moore GE, et al. Among authors: ishida m. Philos Trans R Soc Lond B Biol Sci. 2015 Mar 5;370(1663):20140074. doi: 10.1098/rstb.2014.0074. Philos Trans R Soc Lond B Biol Sci. 2015. PMID: 25602077 Free PMC article. Review.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Mangold E, et al. Among authors: ishida m. Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018475 Free PMC article.
Genetic Analyses in Small-for-Gestational-Age Newborns.
Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC. Stalman SE, et al. Among authors: ishida m. J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843. J Clin Endocrinol Metab. 2018. PMID: 29342293 Free article.
2,674 results