Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2012 | 2 |
2013 | 4 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.
Clin Genet. 2013 Oct;84(4):303-14. doi: 10.1111/cge.12173. Epub 2013 Jun 27.
Clin Genet. 2013.
PMID: 23621851
Review.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S.
Brice G, et al.
Clin Genet. 2013 Oct;84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26.
Clin Genet. 2013.
PMID: 23550541
Item in Clipboard
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S.
Ostergaard P, et al.
Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.
Nat Genet. 2011.
PMID: 21892158
Item in Clipboard
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel A, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P.
Gordon K, et al.
Circ Res. 2013 Mar 15;112(6):956-60. doi: 10.1161/CIRCRESAHA.113.300350. Epub 2013 Feb 14.
Circ Res. 2013.
PMID: 23410910
Item in Clipboard
Cite
Cite