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Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
Mansour S, Josephs KS, Ostergaard P, Gordon K, Van Zanten M, Pearce J, Jeffery S, Keeley V, Riches K, Kreuter A, Wieland U, Hägerling R, Ratnam L, Sackey E, Grigoriadis D, Ho B, Smith F, Rauter E, Mortimer P, Macallan D. Mansour S, et al. Among authors: mortimer p. J Med Genet. 2023 Jan;60(1):84-90. doi: 10.1136/jmedgenet-2021-107820. Epub 2021 Dec 16. J Med Genet. 2023. PMID: 34916230 Free PMC article.
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium. Mansour S, et al. Among authors: mortimer p. Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445. Am J Med Genet A. 2010. PMID: 20803646
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.
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.
678 results