Jeffery S - Search Results

1

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O, Saha P, Seet C, Kuchta A, Arnold A, Grover S, Rashbrook V, Sabine A, Vizcay-Barrena G, Patel A, Ludwinski F, Padayachee S, Kume T, Kwak BR, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S, Brown N, Makinen T, Petrova TV, Modarai B, Smith A. Lyons O, et al. Among authors: jeffery s. J Exp Med. 2017 Aug 7;214(8):2437-2452. doi: 10.1084/jem.20160875. J Exp Med. 2017. PMID: 28724617 Free PMC article.

2

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: jeffery s. JCI Insight. 2021 Sep 22;6(18):e140952. doi: 10.1172/jci.insight.140952. JCI Insight. 2021. PMID: 34403370 Free PMC article.

3

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.

Mellor RH, Brice G, Stanton AW, French J, Smith A, Jeffery S, Levick JR, Burnand KG, Mortimer PS; Lymphoedema Research Consortium. Mellor RH, et al. Among authors: jeffery s. Circulation. 2007 Apr 10;115(14):1912-20. doi: 10.1161/CIRCULATIONAHA.106.675348. Epub 2007 Mar 19. Circulation. 2007. PMID: 17372167 Free article.

4

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: jeffery s. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381

5

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Mellor RH, Tate N, Stanton AW, Hubert C, Mäkinen T, Smith A, Burnand KG, Jeffery S, Levick JR, Mortimer PS. Mellor RH, et al. Among authors: jeffery s. J Vasc Res. 2011;48(5):397-407. doi: 10.1159/000323484. Epub 2011 Apr 4. J Vasc Res. 2011. PMID: 21464574

6

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. Sholto-Douglas-Vernon C, et al. Among authors: jeffery s. Hum Genet. 2005 Jul;117(2-3):238-42. doi: 10.1007/s00439-005-1275-2. Epub 2005 May 20. Hum Genet. 2005. PMID: 15906099

7

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M. Rezaie T, et al. Among authors: jeffery s. Eur J Hum Genet. 2008 Mar;16(3):300-4. doi: 10.1038/sj.ejhg.5201982. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197197

8

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. Among authors: jeffery s. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.

9

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S. Bell R, et al. Among authors: jeffery s. Hum Genet. 2001 Jun;108(6):546-51. doi: 10.1007/s004390100528. Hum Genet. 2001. PMID: 11499682

10

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. Among authors: jeffery s. Clin Genet. 2013 Oct;84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23550541

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

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

381 results

Search Page

Filters