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Page 1
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. Martin-Almedina S, et al. Among authors: mortimer ps. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11. J Clin Invest. 2016. PMID: 27400125 Free PMC article.
Clinicopathological case 2: lymphoedema-distichiasis syndrome.
Ameen M, Brice G, Mortimer PS. Ameen M, et al. Among authors: mortimer ps. Clin Exp Dermatol. 2003 Jul;28(4):463-4. doi: 10.1046/j.1365-2230.2003.01277.x. Clin Exp Dermatol. 2003. PMID: 12823324 No abstract available.
Milroy disease and the VEGFR-3 mutation phenotype.
Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Brice G, et al. J Med Genet. 2005 Feb;42(2):98-102. doi: 10.1136/jmg.2004.024802. J Med Genet. 2005. PMID: 15689446 Free PMC article. Review.
Three children with Milroy disease and de novo mutations in VEGFR3.
Carver C, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S; Lymphodema Consortium. Carver C, et al. Clin Genet. 2007 Feb;71(2):187-9. doi: 10.1111/j.1399-0004.2007.00741.x. Clin Genet. 2007. PMID: 17250670 No abstract available.
Pit-1 mutation and lipoedema in a family.
Bano G, Mansour S, Brice G, Ostergaard P, Mortimer PS, Jeffery S, Nussey S. Bano G, et al. Among authors: mortimer ps. Exp Clin Endocrinol Diabetes. 2010 Jun;118(6):377-80. doi: 10.1055/s-0029-1224154. Epub 2009 Jul 16. Exp Clin Endocrinol Diabetes. 2010. PMID: 19609847
Lipedema: an inherited condition.
Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. Child AH, et al. Among authors: mortimer ps. Am J Med Genet A. 2010 Apr;152A(4):970-6. doi: 10.1002/ajmg.a.33313. Am J Med Genet A. 2010. PMID: 20358611
259 results