Milroy disease and the VEGFR-3 mutation phenotype

G Brice, AH Child, A Evans, R Bell… - Journal of medical …, 2005 - jmg.bmj.com
Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition
for which a major causative gene defect has recently been determined. Mutations in the …

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

FC Connell, K Gordon, G Brice, V Keeley… - Clinical …, 2013 - Wiley Online Library
Historically, primary lymphoedema was classified into just three categories depending on
the age of onset of swelling; congenital, praecox and tarda. Developments in clinical …

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

T Rezaie, A Child, R Hitchings, G Brice, L Miller… - Science, 2002 - science.org
Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a
leading cause of blindness. In a study of 54 families with autosomal dominantly inherited …

[PDF][PDF] Enhancing community accountability, empowerment and education outcomes in low and middle-income countries: A realist review

…, P Rogers, N Overbeeke, D Ball, G Brice - EPPI-Centre, Social …, 2014 - edu-links.org
This realist review addresses the question:'Under what circumstances does enhancing
community accountability and empowerment improve education outcomes, particularly for …

Germline mutations in RAD51D confer susceptibility to ovarian cancer

…, J Barwell, J Berg, AF Brady, C Brewer, G Brice… - Nature …, 2011 - nature.com
Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This
observation prompted us to investigate the role of RAD51D in cancer susceptibility. We …

Monitoring exercise intensity during resistance training using the session RPE scale

ML Day, MR McGuigan, G Brice… - The Journal of Strength & …, 2004 - journals.lww.com
This study investigated the reliability of the session rating of perceived exertion (RPE) scale
to quantify exercise intensity during high-intensity (H), moderate-intensity (M), and low …

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

…, MA Simpson, FC Connell, CG Steward, G Brice… - Nature …, 2011 - nature.com
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an
autosomal dominant primary lymphedema associated with a predisposition to acute myeloid …

[PDF][PDF] Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the …

…, ME Turacli, M Or, RA Lewis, N Ozdemir, G Brice… - The American Journal of …, 1998 - cell.com
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1)
in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on …

Quantitation of resistance training using the session rating of perceived exertion method

…, C Foster, MR McGuigan, G Brice - The journal of strength & …, 2004 - journals.lww.com
The purpose of this study was to apply the session rating of perceived exertion (RPE)
method, which is known to work with aerobic training, to resistance training. Ten men …

[HTML][HTML] Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

…, MA Simpson, S Lin, K Gordon, G Brice… - Nature …, 2015 - nature.com
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema
characterized by a uniform, widespread lymphoedema affecting all segments of the body …