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
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
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
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
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
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
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
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
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
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
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
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
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
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
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