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Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O, Saha P, Seet C, Kuchta A, Arnold A, Grover S, Rashbrook V, Sabine A, Vizcay-Barrena G, Patel A, Ludwinski F, Padayachee S, Kume T, Kwak BR, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S, Brown N, Makinen T, Petrova TV, Modarai B, Smith A. Lyons O, et al. Among authors: mortimer p. J Exp Med. 2017 Aug 7;214(8):2437-2452. doi: 10.1084/jem.20160875. J Exp Med. 2017. PMID: 28724617 Free PMC article.
Mutations in EPHB4 cause human venous valve aplasia.
Lyons O, Walker J, Seet C, Ikram M, Kuchta A, Arnold A, Hernández-Vásquez M, Frye M, Vizcay-Barrena G, Fleck RA, Patel AS, Padayachee S, Mortimer P, Jeffery S, Berland S, Mansour S, Ostergaard P, Makinen T, Modarai B, Saha P, Smith A. Lyons O, et al. Among authors: mortimer p. JCI Insight. 2021 Sep 22;6(18):e140952. doi: 10.1172/jci.insight.140952. JCI Insight. 2021. PMID: 34403370 Free PMC article.
Phenotypic characterization of primary lymphedema.
Connell F, Brice G, Mortimer P. Connell F, et al. Among authors: mortimer p. Ann N Y Acad Sci. 2008;1131:140-6. doi: 10.1196/annals.1413.013. Ann N Y Acad Sci. 2008. PMID: 18519967 Review.
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, Moore S, Mortimer P, Mansour S. Joyce S, et al. Among authors: mortimer p. Eur J Hum Genet. 2016 May;24(5):690-6. doi: 10.1038/ejhg.2015.175. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242988 Free PMC article.
673 results