BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension
Chowdhury, H M, Sharmin, N, Yuzbasioglu Baran, Merve, Long, L, Morrell, N W, Trembath, R C, Nasim, Md Talat
Published in Human molecular genetics (01.07.2019)
Published in Human molecular genetics (01.07.2019)
Get full text
Journal Article
Germline CDH1 mutations in bilateral lobular carcinoma in situ
Petridis, C, Shinomiya, I, Kohut, K, Gorman, P, Caneppele, M, Shah, V, Troy, M, Pinder, S E, Hanby, A, Tomlinson, I, Trembath, R C, Roylance, R, Simpson, M A, Sawyer, E J
Published in British journal of cancer (18.02.2014)
Published in British journal of cancer (18.02.2014)
Get full text
Journal Article
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
Wolf, N, Quaranta, M, Prescott, N J, Allen, M, Smith, R, Burden, A D, Worthington, J, Griffiths, C E M, Mathew, C G, Barker, J N, Capon, F, Trembath, R C
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
Get full text
Journal Article
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
Harrison, R E, Flanagan, J A, Sankelo, M, Abdalla, S A, Rowell, J, Machado, R D, Elliott, C G, Robbins, I M, Olschewski, H, McLaughlin, V, Gruenig, E, Kermeen, F, Laitinen, T, Morrell, N W, Trembath, R C
Published in Journal of medical genetics (01.12.2003)
Published in Journal of medical genetics (01.12.2003)
Get full text
Journal Article
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
Trembath, Richard C., Lee Clough, R., Rosbotham, Jane L., Jones, Andrew B., Camp, Richard D. R., Frodsham, Angela, Browne, Julie, Barber, Ruth, Terwilliger, Joseph, Mark Lathrop, G., Barker, Jonathan N. W. N.
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
Get full text
Journal Article
Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes
Quaranta, M, Burden, A D, Griffiths, C E M, Worthington, J, Barker, J N, Trembath, R C, Capon, F
Published in Genes and immunity (01.10.2009)
Published in Genes and immunity (01.10.2009)
Get full text
Journal Article
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
Price, S M, Stanhope, R, Garrett, C, Preece, M A, Trembath, R C
Published in Journal of medical genetics (01.11.1999)
Published in Journal of medical genetics (01.11.1999)
Get full text
Journal Article
Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)
Coyle, Beth, Reardon, William, Herbrick, Jo-Anne, Tsui, Lap-Chee, Gausden, Eleanor, Lee, Jeffrey, Coffey, Rebecca, Grueters, Annette, Grossman, Ashley, Phelps, Peter D., Luxon, Linda, Kendall-Taylor, Pat, Scherer, Stephen W., Trembath, Richard C.
Published in Human molecular genetics (01.07.1998)
Published in Human molecular genetics (01.07.1998)
Get full text
Journal Article
Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci
Veal, C D, Clough, R L, Barber, R C, Mason, S, Tillman, D, Ferry, B, Jones, A B, Ameen, M, Balendran, N, Powis, S H, Burden, A D, Barker, J N W N, Trembath, R C
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
Get full text
Journal Article
A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort
Baumber, L, Sjöstrand, C, Leone, M, Harty, H, Bussone, G, Hillert, J, Trembath, R C, Russell, M B
Published in Neurology (27.06.2006)
Published in Neurology (27.06.2006)
Get more information
Journal Article
MC3R links nutritional state to childhood growth and the timing of puberty
Lam, B. Y. H., Williamson, A., Finer, S., Day, F. R., Tadross, J. A., Gonçalves Soares, A., Wade, K., Sweeney, P., Bedenbaugh, M. N., Porter, D. T., Melvin, A., Ellacott, K. L. J., Lippert, R. N., Buller, S., Rosmaninho-Salgado, J., Dowsett, G. K. C., Ridley, K. E., Xu, Z., Cimino, I., Rimmington, D., Rainbow, K., Duckett, K., Holmqvist, S., Khan, A., Dai, X., Bochukova, E. G., Trembath, R. C., Martin, H. C., Coll, A. P., Rowitch, D. H., Wareham, N. J., van Heel, D. A., Timpson, N., Simerly, R. B., Ong, K. K., Cone, R. D., Langenberg, C., Perry, J. R. B., Yeo, G. S., O’Rahilly, S.
Published in Nature (London) (18.11.2021)
Published in Nature (London) (18.11.2021)
Get full text
Journal Article
Regulation of bone morphogenetic protein signalling in human pulmonary vascular development
Southwood, M, Jeffery, TK, Yang, X, Upton, PD, Hall, SM, Atkinson, C, Haworth, SG, Stewart, S, Reynolds, PN, Long, L, Trembath, RC, Morrell, NW
Published in The Journal of pathology (2008)
Published in The Journal of pathology (2008)
Get full text
Journal Article
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
Baumber, L, Tufarelli, C, Patel, S, King, P, Johnson, C A, Maher, E R, Trembath, R C
Published in Journal of medical genetics (01.05.2005)
Published in Journal of medical genetics (01.05.2005)
Get full text
Journal Article
Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor
COX, H. E, MOFFATT, M. F, FAUX, J. A, WALLEY, A. J, COLEMAN, R, TREMBATH, R. C, COOKSON, W. O. C. M, HARPER, J. I
Published in British journal of dermatology (1951) (01.01.1998)
Published in British journal of dermatology (1951) (01.01.1998)
Get full text
Journal Article
Radiological malformations of the ear in pendred syndrome
Phelps, P.D., Coffey, R.A., Trembath, R.C., Luxon, L.M., Grossman, A.B., Britton, K.E., Kendall-Taylor, P., Graham, J.M., Cadge, B.C., Stephens, S.G.D., Pembrey, M.E., Reardon, W.
Published in Clinical radiology (01.04.1998)
Published in Clinical radiology (01.04.1998)
Get full text
Journal Article
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
Reardon, W., Pembrey, M.E., Trembath, R.C., Ross, R.J.M., Sweeney, M.G., Harding, A.E., Luxon, L.M.
Published in The Lancet (British edition) (05.12.1992)
Published in The Lancet (British edition) (05.12.1992)
Get full text
Journal Article
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
VIGOUROUX, Corinne, MAGRE, Jocelyne, GRIMALDI, André, PIQUEMAL, Régis, TOURAINE, Philippe, TREMBATH, Richard C, CAPEAU, Jacqueline, VANTYGHEM, Marie-Christine, BOURUT, Charlotte, LASCOLS, Olivier, SHACKLETON, Sue, LLOYD, David J, GUERCI, Bruno, PADOVA, Giuseppina, VALENSI, Paul
Published in Diabetes (New York, N.Y.) (01.11.2000)
Published in Diabetes (New York, N.Y.) (01.11.2000)
Get full text
Journal Article
Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris
Capon, F., Bharkhada, J., Cochrane, N.E., Mortimer, N.J., Setterfield, J.F., Reynaert, S., Black, M.M., Vaughan, R.W., Trembath, R.C., Harman, K.E.
Published in British journal of dermatology (1951) (01.01.2006)
Published in British journal of dermatology (1951) (01.01.2006)
Get full text
Journal Article