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Results: 1-19 |
Results: 19
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibilityloci
Authors: Cookson, WOCM Ubhi, B Lawrence, R Abecasis, GR Walley, AJ Cox, HE Coleman, R Leaves, NI Trembath, RC Moffatt, MF Harper, JI
Citation: Wocm. Cookson et al., Genetic linkage of childhood atopic dermatitis to psoriasis susceptibilityloci, NAT GENET, 27(4), 2001, pp. 372-373
New insights into the pathogenesis and treatment of primary pulmonary hypertension
Authors: Rudarakanchana, N Trembath, RC Morrell, NW
Citation: N. Rudarakanchana et al., New insights into the pathogenesis and treatment of primary pulmonary hypertension, THORAX, 56(11), 2001, pp. 888-890
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
Authors: Trembath, RC Thomson, JR Machado, RD Morgan, NV Atkinson, C Winship, I Simonneau, G Galie, N Loyd, JE Humbert, M Nichols, WC Morrell, NW Berg, J Manes, A McGaughran, J Pauciulo, M Wheeler, L
Citation: Rc. Trembath et al., Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia, N ENG J MED, 345(5), 2001, pp. 325-334
Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci
Authors: Veal, CD Clough, RL Barber, RC Mason, S Tillman, D Ferry, B Jones, AB Ameen, M Balendran, N Powis, SH Burden, AD Barker, JNWN Trembath, RC
Citation: Cd. Veal et al., Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci, J MED GENET, 38(1), 2001, pp. 7-13
Altered growth responses of muscle cells from patients pulmonary artery smooth with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins
Authors: Morrell, NW Yang, XD Upton, PD Jourdan, KB Morgan, N Sheares, KK Trembath, RC
Citation: Nw. Morrell et al., Altered growth responses of muscle cells from patients pulmonary artery smooth with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins, CIRCULATION, 104(7), 2001, pp. 790-795
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
Authors: Machado, RD Pauciulo, MW Thomson, JR Lane, KB Morgan, NV Wheeler, L Phillips, JA Newman, J Williams, D Galie, N Manes, A McNeil, K Yacoub, M Mikhail, G Rogers, P Corris, P Humbert, M Donnai, D Martensson, G Tranebjaerg, L Loyd, JE Trembath, RC Nichols, WC
Citation: Rd. Machado et al., BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension, AM J HU GEN, 68(1), 2001, pp. 92-102
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
Authors: Lane, KB Machado, RD Pauciulo, MW Thomson, JR Phillips, JA Loyd, JE Nichols, WC Trembath, RC
Citation: Kb. Lane et al., Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension, NAT GENET, 26(1), 2000, pp. 81-84
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Authors: Shackleton, S Lloyd, DJ Jackson, SNJ Evans, R Niermeijer, MF Singh, BM Schmidt, H Brabant, G Kumar, S Durrington, PN Gregory, S O'Rahilly, S Trembath, RC
Citation: S. Shackleton et al., LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, NAT GENET, 24(2), 2000, pp. 153-156
Activating and inactivating mutations in the human GNAS1 gene
Authors: Aldred, MA Trembath, RC
Citation: Ma. Aldred et Rc. Trembath, Activating and inactivating mutations in the human GNAS1 gene, HUM MUTAT, 16(3), 2000, pp. 183-189
A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension
Authors: Machado, RD Pauciulo, MW Fretwell, N Veal, C Thomson, JR Guell, CV Aldred, M Brannon, CA Trembath, RC Nichols, WC
Citation: Rd. Machado et al., A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension, GENOMICS, 68(2), 2000, pp. 220-228
Lessons from lipodystrophy: LMNA, encoding lamin A/C, in HIV therapy-associated lipodystrophy
Authors: Behrens, GMN Lloyd, D Schmidt, HHJ Schmidt, RE Trembath, RC
Citation: Gmn. Behrens et al., Lessons from lipodystrophy: LMNA, encoding lamin A/C, in HIV therapy-associated lipodystrophy, AIDS, 14(12), 2000, pp. 1854-1855
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
Authors: Thomson, JR Machado, RD Pauciulo, MW Morgan, NV Humbert, M Elliott, GC Ward, K Yacoub, M Mikhail, G Rogers, P Newman, J Wheeler, L Higenbottam, T Gibbs, JSR Egan, J Crozier, A Peacock, A Allcock, R Corris, P Loyd, JE Trembath, RC Nichols, WC
Citation: Jr. Thomson et al., Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family, J MED GENET, 37(10), 2000, pp. 741-745
Primary pulmonary hypertension: the pressure rises for a gene
Authors: Thomson, JR Trembath, RC
Citation: Jr. Thomson et Rc. Trembath, Primary pulmonary hypertension: the pressure rises for a gene, J CLIN PATH, 53(12), 2000, pp. 899-903
Lamin A/C gene - Sex-determined expression of mutations in dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenitaland acquired generalized lipoatrophy
Authors: Vigouroux, C Magre, J Vantyghem, MC Bourut, C Lascols, O Shackleton, S Lloyd, DJ Guerci, B Padova, G Valensi, P Grimaldi, A Piquemal, R Touraine, P Trembath, RC Capeau, J
Citation: C. Vigouroux et al., Lamin A/C gene - Sex-determined expression of mutations in dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenitaland acquired generalized lipoatrophy, DIABETES, 49(11), 2000, pp. 1958-1962
A non-HLA gene within the MHC in psoriasis
Authors: Allen, MH Veal, C Faassen, A Powis, SH Vaughan, RW Trembath, RC Barker, JNWN
Citation: Mh. Allen et al., A non-HLA gene within the MHC in psoriasis, LANCET, 353(9164), 1999, pp. 1589-1590
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
Authors: Bijlsma, EK Aalfs, CM Sluijter, S Luttikhuis, MEMO Trembath, RC Hoovers, JMN Hennekam, RCM
Citation: Ek. Bijlsma et al., Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype, J MED GENET, 36(8), 1999, pp. 604-609
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
Authors: Price, SM Stanhope, R Garrett, C Preece, MA Trembath, RC
Citation: Sm. Price et al., The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria, J MED GENET, 36(11), 1999, pp. 837-842
Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3
Authors: Balendran, N Clough, RL Arguello, JR Barber, R Veal, C Jones, AB Rosbotham, JL Little, AM Madrigal, A Barker, JNWN Powris, SH Trembath, RC
Citation: N. Balendran et al., Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3, J INVES DER, 113(3), 1999, pp. 322-328
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Authors: Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, MH ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, K Proesmans, W Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W Seemanova, E Engel, W
Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445
Risultati: 1-19 |