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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: mansour s. Genet Med. 2021 Jul;23(7):1376-1377. doi: 10.1038/s41436-021-01202-0. Genet Med. 2021. PMID: 34040196 Free PMC article. No abstract available.
A gene for lymphedema-distichiasis maps to 16q24.3.
Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S. Mangion J, et al. Among authors: mansour s. Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500. Am J Hum Genet. 1999. PMID: 10417285 Free PMC article.
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. Among authors: mansour s. 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. Among authors: mansour s. 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.
1,016 results