-
1
-
-
0027122152
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992;69:385.
-
(1992)
Cell
, vol.69
, pp. 385
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
-
2
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52:1164-1174.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.J.9
Harper, P.S.10
-
3
-
-
0029086553
-
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension
-
Loyd JE, Butler MG, Foroud TM, Conneally PM, Phillips JA III, Newman JH. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med 1995;152:93-97.
-
(1995)
Am J Respir Crit Care Med
, vol.152
, pp. 93-97
-
-
Loyd, J.E.1
Butler, M.G.2
Foroud, T.M.3
Conneally, P.M.4
Phillips III, J.A.5
Newman, J.H.6
-
4
-
-
0030972166
-
The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion
-
Loyd JE, Slovis B, Phillips JA III, Butler MG, Foroud TM, Conneally PM, Newman JH. The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest 1997;111:82S-83S.
-
(1997)
Chest
, vol.111
-
-
Loyd, J.E.1
Slovis, B.2
Phillips Iii, J.A.3
Butler, M.G.4
Foroud, T.M.5
Conneally, P.M.6
Newman, J.H.7
-
5
-
-
0033817459
-
The International PPH Consortium Het-erozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
-
Lane KB, Machado RD, Pauciulo M, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC; The International PPH Consortium. Het-erozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000;26:81-84.
-
(2000)
Nat Genet
, vol.26
, pp. 81-84
-
-
Lane, K.B.1
MacHado, R.D.2
Pauciulo, M.3
Thomson, J.R.4
Phillips III, J.A.5
Loyd, J.E.6
Nichols, W.C.7
Trembath, R.C.8
-
6
-
-
0033838125
-
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morpho-genetic protein receptor-II gene
-
Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morpho-genetic protein receptor-II gene. Am J Hum Genet 2000;67:737-744.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 737-744
-
-
Deng, Z.1
Morse, J.H.2
Slager, S.L.3
Cuervo, N.4
Moore, K.J.5
Venetos, G.6
Kalachikov, S.7
Cayanis, E.8
Fischer, S.G.9
Barst, R.J.10
-
7
-
-
84868273339
-
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmo-nary arterial hypertension
-
Larkin EK, Newman JH, Austin ED, Hemnes AR, Wheeler L, Robbins IM, West JD, Phillips JA III, Hamid R, Loyd JE. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmo-nary arterial hypertension. Am J Respir Crit Care Med 2012;186:892-896.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 892-896
-
-
Larkin, E.K.1
Newman, J.H.2
Austin, E.D.3
Hemnes, A.R.4
Wheeler, L.5
Robbins, I.M.6
West, J.D.7
Phillips Iii, J.A.8
Hamid, R.9
Loyd, J.E.10
-
8
-
-
0032031727
-
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension
-
Lee SD, Shroyer KR, Markham NE, Cool CD, Voelkel NF, Tuder RM. Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. J Clin Invest 1998;101:927-934.
-
(1998)
J Clin Invest
, vol.101
, pp. 927-934
-
-
Lee, S.D.1
Shroyer, K.R.2
Markham, N.E.3
Cool, C.D.4
Voelkel, N.F.5
Tuder, R.M.6
-
9
-
-
51849130662
-
Severe pulmonary arterial hypertension: A forme fruste of cancer?
-
Humbert M, Hoeper MM. Severe pulmonary arterial hypertension: a forme fruste of cancer? Am J Respir Crit Care Med 2008;178:551-552.
-
(2008)
Am J Respir Crit Care Med
, vol.178
, pp. 551-552
-
-
Humbert, M.1
Hoeper, M.M.2
-
10
-
-
51849167730
-
The cancer paradigm of severe pulmonary arterial hy-pertension
-
Rai PR, Cool CD, King JA, Stevens T, Burns N, Winn RA, Kasper M, Voelkel NF. The cancer paradigm of severe pulmonary arterial hy-pertension. Am J Respir Crit Care Med 2008;178:558-564.
-
(2008)
Am J Respir Crit Care Med
, vol.178
, pp. 558-564
-
-
Rai, P.R.1
Cool, C.D.2
King, J.A.3
Stevens, T.4
Burns, N.5
Winn, R.A.6
Kasper, M.7
Voelkel, N.F.8
-
11
-
-
13444309082
-
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension
-
Machado RD, James V, Southwood M, Harrison RE, Atkinson C, Stewart S, Morrell NW, Trembath RC, Aldred MA. Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation 2005;111:607-613.
-
(2005)
Circulation
, vol.111
, pp. 607-613
-
-
MacHado, R.D.1
James, V.2
Southwood, M.3
Harrison, R.E.4
Atkinson, C.5
Stewart, S.6
Morrell, N.W.7
Trembath, R.C.8
Aldred, M.A.9
-
12
-
-
0035910729
-
Micro-satellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension
-
Yeager ME, Halley GR, Golpon HA, Voelkel NF, Tuder RM. Micro-satellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension. Circ Res 2001;88:E2-E11.
-
(2001)
Circ Res
, vol.88
-
-
Yeager, M.E.1
Halley, G.R.2
Golpon, H.A.3
Voelkel, N.F.4
Tuder, R.M.5
-
13
-
-
78349266115
-
Somatic chromosome abnormalities in the lungs of patients with pulmonary ar-terial hypertension
-
Aldred MA, Comhair SA, Varella-Garcia M, Asosingh K, Xu W, Noon GP, Thistlethwaite PA, Tuder RM, Erzurum SC, Geraci MW, et al. Somatic chromosome abnormalities in the lungs of patients with pulmonary ar-terial hypertension. Am J Respir Crit Care Med 2010;182:1153-1160.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 1153-1160
-
-
Aldred, M.A.1
Comhair, S.A.2
Varella-Garcia, M.3
Asosingh, K.4
Xu, W.5
Noon, G.P.6
Thistlethwaite, P.A.7
Tuder, R.M.8
Erzurum, S.C.9
Geraci, M.W.10
-
14
-
-
18544376034
-
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives
-
Humbert M, Deng Z, Simonneau G, Barst RJ, Sitbon O, Wolf M, Cuervo N, Moore KJ, Hodge SE, Knowles JA, et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002;20:518-523.
-
(2002)
Eur Respir J
, vol.20
, pp. 518-523
-
-
Humbert, M.1
Deng, Z.2
Simonneau, G.3
Barst, R.J.4
Sitbon, O.5
Wolf, M.6
Cuervo, N.7
Moore, K.J.8
Hodge, S.E.9
Knowles, J.A.10
-
15
-
-
63749109111
-
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
-
Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA III, Newman JH, Loyd JE. Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. Hum Mutat 2009;30:649-654.
-
(2009)
Hum Mutat
, vol.30
, pp. 649-654
-
-
Hamid, R.1
Cogan, J.D.2
Hedges, L.K.3
Austin, E.4
Phillips Iii, J.A.5
Newman, J.H.6
Loyd, J.E.7
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