Smith A - Search Results

1

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: smith a. 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

2

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: smith a. Circulation. 2007 Apr 10;115(14):1912-20. doi: 10.1161/CIRCULATIONAHA.106.675348. Epub 2007 Mar 19. Circulation. 2007. PMID: 17372167 Free article.

3

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: smith a. J Vasc Res. 2011;48(5):397-407. doi: 10.1159/000323484. Epub 2011 Apr 4. J Vasc Res. 2011. PMID: 21464574

4

An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms.

Deguara J, Burnand KG, Berg J, Green P, Lewis CM, Chinien G, Waltham M, Taylor P, Stern RF, Solomon E, Smith A. Deguara J, et al. Among authors: smith a. Hum Mol Genet. 2007 Dec 15;16(24):3002-7. doi: 10.1093/hmg/ddm258. Epub 2007 Sep 17. Hum Mol Genet. 2007. PMID: 17875574

5

Lymphatic dysfunction, not aplasia, underlies Milroy disease.

Mellor RH, Hubert CE, Stanton AW, Tate N, Akhras V, Smith A, Burnand KG, Jeffery S, Mäkinen T, Levick JR, Mortimer PS. Mellor RH, et al. Among authors: smith a. Microcirculation. 2010 May;17(4):281-96. doi: 10.1111/j.1549-8719.2010.00030.x. Microcirculation. 2010. PMID: 20536741

6

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: smith a. J Exp Med. 2017 Aug 7;214(8):2437-2452. doi: 10.1084/jem.20160875. J Exp Med. 2017. PMID: 28724617 Free PMC article.

7

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, Child AH, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers S, Johnson A, Sohrabi S, Smith A, Thompson MM, van Bockxmeer FM, Waltham M, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R; CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium; Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt SE, Potter S, Lindholt JS, Frikke-Schmidt R, Tybjærg-Hansen A, Hughes AE, Golledge J, Norman PE, van Rij A, Powell JT, Eriksson P, Stefansson K, Thompson JR, Humphries SE, Sayers RD, Deloukas P, Samani NJ. Bown MJ, et al. Among authors: smith aj, smith a. Am J Hum Genet. 2011 Nov 11;89(5):619-27. doi: 10.1016/j.ajhg.2011.10.002. Epub 2011 Nov 4. Am J Hum Genet. 2011. PMID: 22055160 Free PMC article.

8

The role of neovascularisation in the resolution of venous thrombus.

Modarai B, Burnand KG, Humphries J, Waltham M, Smith A. Modarai B, et al. Among authors: smith a. Thromb Haemost. 2005 May;93(5):801-9. doi: 10.1160/TH04-09-0596. Thromb Haemost. 2005. PMID: 15886791 Review.

9

Matrix metalloproteinases in the aneurysm wall of patients treated with low-dose doxycycline.

Ding R, McGuinness CL, Burnand KG, Sullivan E, Smith A. Ding R, et al. Among authors: smith a. Vascular. 2005 Sep-Oct;13(5):290-7. doi: 10.1258/rsmvasc.13.5.290. Vascular. 2005. PMID: 16288704 Clinical Trial.

10

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

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