Richard Trembath
Richard Trembath
Verifierad e-postadress på kcl.ac.uk
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
S Sawcer, G Hellenthal, M Pirinen, CCA Spencer, NA Patsopoulos, ...
Nature 476 (7359), 214, 2011
22612011
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ...
Nature genetics 26 (1), 81-84, 2000
14192000
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ...
Nature genetics 42 (11), 985, 2010
8372010
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
JR Thomson, RD Machado, MW Pauciulo, NV Morgan, M Humbert, ...
Journal of medical genetics 37 (10), 741-745, 2000
7822000
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
RC Trembath, JR Thomson, RD Machado, NV Morgan, C Atkinson, ...
New England Journal of Medicine 345 (5), 325-334, 2001
7762001
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ...
Nature genetics 44 (12), 1341-1348, 2012
7542012
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
DM Evans, CCA Spencer, JJ Pointon, Z Su, D Harvey, G Kochan, ...
Nature genetics 43 (8), 761-767, 2011
7312011
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
S Shackleton, DJ Lloyd, SNJ Jackson, R Evans, MF Niermeijer, BM Singh, ...
Nature genetics 24 (2), 153-156, 2000
7202000
Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor
C Atkinson, S Stewart, PD Upton, R Machado, JR Thomson, RC Trembath, ...
Circulation 105 (14), 1672-1678, 2002
6252002
Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis
RC Trembath, R Lee Clough, JL Rosbotham, AB Jones, RDR Camp, ...
Human molecular genetics 6 (5), 813-820, 1997
6101997
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ...
Human molecular genetics 8 (8), 1461-1472, 1999
5821999
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
RD Machado, MW Pauciulo, JR Thomson, KB Lane, NV Morgan, ...
The American Journal of Human Genetics 68 (1), 92-102, 2001
5802001
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, ME Pembrey, RC Trembath, RJM Ross, MG Sweeney, ...
The Lancet 340 (8832), 1376-1379, 1992
5351992
CLINICAL PERSPECTIVE
E Soon, AM Holmes, CM Treacy, NJ Doughty, L Southgate, RD Machado, ...
Circulation 122 (9), 920-927, 2010
5222010
Altered Growth Responses of Pulmonary Artery Smooth Muscle Cells From Patients With Primary Pulmonary Hypertension to Transforming Growth Factor-β1 and …
NW Morrell, X Yang, PD Upton, KB Jourdan, N Morgan, KK Sheares, ...
Circulation 104 (7), 790-795, 2001
4962001
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
F Capon, P Di Meglio, J Szaub, NJ Prescott, C Dunster, L Baumber, ...
Human genetics 122 (2), 201-206, 2007
4952007
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton
F Haque, DJ Lloyd, DT Smallwood, CL Dent, CM Shanahan, AM Fry, ...
Molecular and cellular biology 26 (10), 3738-3751, 2006
4802006
PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ...
Nature genetics 38 (7), 752-754, 2006
4682006
Mutations of the TGF‐β type II receptor BMPR2 in pulmonary arterial hypertension
RD Machado, MA Aldred, V James, RE Harrison, B Patel, EC Schwalbe, ...
Human mutation 27 (2), 121-132, 2006
4602006
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci
WOCM Cookson, B Ubhi, R Lawrence, GR Abecasis, AJ Walley, HE Cox, ...
Nature genetics 27 (4), 372-373, 2001
4522001
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Artiklar 1–20