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Year Number of Results
2010 2
2011 3
2012 4
2013 4
2015 4
2016 2
2018 1
2020 0
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18 results
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Page 1
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Nat Commun. 2015. PMID: 26333996 Free PMC article.
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
Nadarajah N, Schulte D, McConnell V, Martin-Almedina S, Karapouliou C, Mortimer PS, Jeffery S, Schulte-Merker S, Gordon K, Mansour S, Ostergaard P. Nadarajah N, et al. Int J Mol Sci. 2018 Aug 1;19(8):2259. doi: 10.3390/ijms19082259. Int J Mol Sci. 2018. PMID: 30071673 Free PMC article.
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
Atton G, Gordon K, Brice G, Keeley V, Riches K, Ostergaard P, Mortimer P, Mansour S. Atton G, et al. Eur J Hum Genet. 2015 Dec;23(12):1634-9. doi: 10.1038/ejhg.2015.41. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804399 Free PMC article. Review.
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.
Connell FC, Gordon K, Brice G, Keeley V, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Connell FC, et al. Clin Genet. 2013 Oct;84(4):303-14. doi: 10.1111/cge.12173. Epub 2013 Jun 27. Clin Genet. 2013. PMID: 23621851 Review.
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. 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.
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Gordon K, et al. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.
Lipedema: an inherited condition.
Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. Child AH, et al. 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
Quantitative Contrast-Enhanced Magnetic Resonance Lymphangiography of the Upper Limbs in Breast Cancer Related Lymphedema: An Exploratory Study.
Borri M, Schmidt MA, Gordon KD, Wallace TA, Hughes JC, Scurr ED, Koh DM, Leach MO, Mortimer PS. Borri M, et al. Lymphat Res Biol. 2015 Jun;13(2):100-6. doi: 10.1089/lrb.2014.0039. Epub 2015 Mar 16. Lymphat Res Biol. 2015. PMID: 25774851 Free PMC article.
Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
Balikova I, Robson AG, Holder GE, Ostergaard P, Mansour S, Moore AT. Balikova I, et al. Acta Ophthalmol. 2016 Feb;94(1):92-8. doi: 10.1111/aos.12759. Epub 2015 May 21. Acta Ophthalmol. 2016. PMID: 25996076 Free article.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
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