-
1
-
-
1842458445
-
Ectopia lentis phenotypes and the FBN1 gene
-
Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B (2004) Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A 126:284-289
-
(2004)
Am J Med Genet A
, vol.126
, pp. 284-289
-
-
Ades, L.C.1
Holman, K.J.2
Brett, M.S.3
Edwards, M.J.4
Bennetts, B.5
-
2
-
-
33646243773
-
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
-
Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A 140:1047-1058
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1047-1058
-
-
Ades, L.C.1
Sullivan, K.2
Biggin, A.3
Haan, E.A.4
Brett, M.5
Holman, K.J.6
Dixon, J.7
Robertson, S.8
Holmes, A.D.9
Rogers, J.10
Bennetts, B.11
-
3
-
-
3342957232
-
Unique and redundant roles of Smad3 in TGF-beta-mediated regulation of long bone development in organ culture
-
Alvarez J, Serra R (2004) Unique and redundant roles of Smad3 in TGF-beta-mediated regulation of long bone development in organ culture. Dev Dyn 230:685-699
-
(2004)
Dev Dyn
, vol.230
, pp. 685-699
-
-
Alvarez, J.1
Serra, R.2
-
5
-
-
33744902652
-
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
-
Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L (2005) Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat 26:494
-
(2005)
Hum Mutat
, vol.26
, pp. 494
-
-
Arbustini, E.1
Grasso, M.2
Ansaldi, S.3
Malattia, C.4
Pilotto, A.5
Porcu, E.6
Disabella, E.7
Marziliano, N.8
Pisani, A.9
Lanzarini, L.10
Mannarino, S.11
Larizza, D.12
Mosconi, M.13
Antoniazzi, E.14
Zoia, M.C.15
Meloni, G.16
Magrassi, L.17
Brega, A.18
Bedeschi, M.F.19
Torrente, I.20
Mari, F.21
Tavazzi, L.22
more..
-
6
-
-
13744265676
-
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy
-
Biggin A, Holman K, Brett M, Bennetts B, Ades L (2004) Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 23:99
-
(2004)
Hum Mutat
, vol.23
, pp. 99
-
-
Biggin, A.1
Holman, K.2
Brett, M.3
Bennetts, B.4
Ades, L.5
-
7
-
-
0027434893
-
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes
-
Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaiti-Pellie C, et al (1993) Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet 53:46-54
-
(1993)
Am J Hum Genet
, vol.53
, pp. 46-54
-
-
Boileau, C.1
Jondeau, G.2
Babron, M.C.3
Coulon, M.4
Alexandre, J.A.5
Sakai, L.6
Melki, J.7
Delorme, G.8
Dubourg, O.9
Bonaiti-Pellie, C.10
-
9
-
-
1842527130
-
Fine tuning of growth factor signals depends on fibrillin microfibril networks
-
Charbonneau NL, Ono RN, Corson GM, Keene DR, Sakai LY (2004) Fine tuning of growth factor signals depends on fibrillin microfibril networks. Birth Defects Res C Embryo Today 72:37-50
-
(2004)
Birth Defects Res C Embryo Today
, vol.72
, pp. 37-50
-
-
Charbonneau, N.L.1
Ono, R.N.2
Corson, G.M.3
Keene, D.R.4
Sakai, L.Y.5
-
10
-
-
0037216494
-
TGF beta/Smad signaling system and its pathologic correlates
-
Cohen MM Jr (2003) TGF beta/Smad signaling system and its pathologic correlates. Am J Med Genet A 116:1-10
-
(2003)
Am J Med Genet A
, vol.116
, pp. 1-10
-
-
Cohen Jr., M.M.1
-
11
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaiti-Pellie C, Junien C, Boileau C (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 8:264-268
-
(1994)
Nat Genet
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.C.2
Jondeau, G.3
Coulon, M.4
Weissenbach, J.5
Dubourg, O.6
Bourdarias, J.P.7
Bonaiti-Pellie, C.8
Junien, C.9
Boileau, C.10
-
12
-
-
17144446828
-
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database
-
Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C (2003) Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 22:199-208
-
(2003)
Hum Mutat
, vol.22
, pp. 199-208
-
-
Collod-Beroud, G.1
Le Bourdelles, S.2
Ades, L.3
Ala-Kokko, L.4
Booms, P.5
Boxer, M.6
Child, A.7
Comeglio, P.8
De Paepe, A.9
Hyland, J.C.10
Holman, K.11
Kaitila, I.12
Loeys, B.13
Matyas, G.14
Nuytinck, L.15
Peltonen, L.16
Rantamaki, T.17
Robinson, P.18
Steinmann, B.19
Junien, C.20
Beroud, C.21
Boileau, C.22
more..
-
13
-
-
0036893786
-
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
-
Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH (2002) Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 86:1359-1362
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 1359-1362
-
-
Comeglio, P.1
Evans, A.L.2
Brice, G.3
Cooling, R.J.4
Child, A.H.5
-
14
-
-
0027257818
-
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5 end
-
Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5 end. Genomics 17:476-484
-
(1993)
Genomics
, vol.17
, pp. 476-484
-
-
Corson, G.M.1
Chalberg, S.C.2
Dietz, H.C.3
Charbonneau, N.L.4
Sakai, L.Y.5
-
15
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
16
-
-
0042090396
-
Fibroblast-specific expression of a kinase-deficient type II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fibrosis in transgenic mice
-
Denton CP, Zheng B, Evans LA, Shi-wen X, Ong VH, Fisher I, Lazaridis K, Abraham DJ, Black CM, de Crombrugghe B (2003) Fibroblast-specific expression of a kinase-deficient type II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fibrosis in transgenic mice. J Biol Chem 278:25109-25119
-
(2003)
J Biol Chem
, vol.278
, pp. 25109-25119
-
-
Denton, C.P.1
Zheng, B.2
Evans, L.A.3
Shi-wen, X.4
Ong, V.H.5
Fisher, I.6
Lazaridis, K.7
Abraham, D.J.8
Black, C.M.9
De Crombrugghe, B.10
-
17
-
-
0034785348
-
TGF-beta signaling in tumor suppression and cancer progression
-
Derynck R, Akhurst RJ, Balmain A (2001) TGF-beta signaling in tumor suppression and cancer progression. Nat Genet 29:117-129
-
(2001)
Nat Genet
, vol.29
, pp. 117-129
-
-
Derynck, R.1
Akhurst, R.J.2
Balmain, A.3
-
18
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-339
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
Nanthakumar, E.J.9
Curristin, S.M.10
-
19
-
-
0027261517
-
Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
-
Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA (1993) Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475
-
(1993)
Genomics
, vol.17
, pp. 468-475
-
-
Dietz, H.C.1
McIntosh, I.2
Sakai, L.Y.3
Corson, G.M.4
Chalberg, S.C.5
Pyeritz, R.E.6
Francomano, C.A.7
-
20
-
-
0029263728
-
The question of heterogeneity in Marfan syndrome
-
Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R (1995) The question of heterogeneity in Marfan syndrome. Nat Genet 9:228-229
-
(1995)
Nat Genet
, vol.9
, pp. 228-229
-
-
Dietz, H.1
Francke, U.2
Furthmayr, H.3
Francomano, C.4
De Paepe, A.5
Devereux, R.6
Ramirez, F.7
Pyeritz, R.8
-
21
-
-
29644441249
-
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
-
Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, Tagliani M, Pilotto A, Diegoli M, Lanzarini L, Malattia C, Pelliccia A, Ficcadenti A, Gabrielli O, Arbustini E (2006) Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Eur J Hum Genet 14:34-38
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 34-38
-
-
Disabella, E.1
Grasso, M.2
Marziliano, N.3
Ansaldi, S.4
Lucchelli, C.5
Porcu, E.6
Tagliani, M.7
Pilotto, A.8
Diegoli, M.9
Lanzarini, L.10
Malattia, C.11
Pelliccia, A.12
Ficcadenti, A.13
Gabrielli, O.14
Arbustini, E.15
-
22
-
-
0030000090
-
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: Implications for the Marfan syndrome and other genetic disorders
-
Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA (1996) Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85:597-605
-
(1996)
Cell
, vol.85
, pp. 597-605
-
-
Downing, A.K.1
Knott, V.2
Werner, J.M.3
Cardy, C.M.4
Campbell, I.D.5
Handford, P.A.6
-
23
-
-
0037238770
-
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
-
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V (2003) In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 40:34-36
-
(2003)
J Med Genet
, vol.40
, pp. 34-36
-
-
Faivre, L.1
Gorlin, R.J.2
Wirtz, M.K.3
Godfrey, M.4
Dagoneau, N.5
Samples, J.R.6
Le Merrer, M.7
Collod-Beroud, G.8
Boileau, C.9
Munnich, A.10
Cormier-Daire, V.11
-
24
-
-
0029001289
-
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
-
Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H (1995) A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 56:1287-1296
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1287-1296
-
-
Francke, U.1
Berg, M.A.2
Tynan, K.3
Brenn, T.4
Liu, W.5
Aoyama, T.6
Gasner, C.7
Miller, D.C.8
Furthmayr, H.9
-
26
-
-
0028158765
-
Marfan syndrome or Marfan-like connective-tissue disorder
-
Gilchrist DM (1994) Marfan syndrome or Marfan-like connective-tissue disorder. Am J Hum Genet 54:553-554
-
(1994)
Am J Hum Genet
, vol.54
, pp. 553-554
-
-
Gilchrist, D.M.1
-
27
-
-
0035933045
-
Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13-14
-
Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM (2001) Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103:2461-2468
-
(2001)
Circulation
, vol.103
, pp. 2461-2468
-
-
Guo, D.1
Hasham, S.2
Kuang, S.Q.3
Vaughan, C.J.4
Boerwinkle, E.5
Chen, H.6
Abuelo, D.7
Dietz, H.C.8
Basson, C.T.9
Shete, S.S.10
Milewicz, D.M.11
-
28
-
-
33645672459
-
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312:117-121
-
(2006)
Science
, vol.312
, pp. 117-121
-
-
Habashi, J.P.1
Judge, D.P.2
Holm, T.M.3
Cohn, R.D.4
Loeys, B.L.5
Cooper, T.K.6
Myers, L.7
Klein, E.C.8
Liu, G.9
Calvi, C.10
Podowski, M.11
Neptune, E.R.12
Halushka, M.K.13
Bedja, D.14
Gabrielson, K.15
Rifkin, D.B.16
Carta, L.17
Ramirez, F.18
Huso, D.L.19
Dietz, H.C.20
more..
-
29
-
-
0036341187
-
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
-
Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P (2002) Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 39:589-593
-
(2002)
J Med Genet
, vol.39
, pp. 589-593
-
-
Halliday, D.J.1
Hutchinson, S.2
Lonie, L.3
Hurst, J.A.4
Firth, H.5
Handford, P.A.6
Wordsworth, P.7
-
30
-
-
0038755597
-
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25
-
Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM (2003) Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107:3184-3190
-
(2003)
Circulation
, vol.107
, pp. 3184-3190
-
-
Hasham, S.N.1
Willing, M.C.2
Guo, D.C.3
Muilenburg, A.4
He, R.5
Tran, V.T.6
Scherer, S.E.7
Shete, S.S.8
Milewicz, D.M.9
-
31
-
-
0141702288
-
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: A potential modifier of phenotype?
-
Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA (2003) Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet 12:2269-2276
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2269-2276
-
-
Hutchinson, S.1
Furger, A.2
Halliday, D.3
Judge, D.P.4
Jefferson, A.5
Dietz, H.C.6
Firth, H.7
Handford, P.A.8
-
32
-
-
0023025366
-
Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix
-
Ignotz RA, Massague J (1986) Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 261:4337-4345
-
(1986)
J Biol Chem
, vol.261
, pp. 4337-4345
-
-
Ignotz, R.A.1
Massague, J.2
-
33
-
-
0037462678
-
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
-
Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, Sakai LY (2003) Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 278:2750-2757
-
(2003)
J Biol Chem
, vol.278
, pp. 2750-2757
-
-
Isogai, Z.1
Ono, R.N.2
Ushiro, S.3
Keene, D.R.4
Chen, Y.5
Mazzieri, R.6
Charbonneau, N.L.7
Reinhardt, D.P.8
Rifkin, D.B.9
Sakai, L.Y.10
-
34
-
-
0037470182
-
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
-
Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W (2003) Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem 278:7718-7724
-
(2003)
J Biol Chem
, vol.278
, pp. 7718-7724
-
-
Janssens, K.1
Ten Dijke, P.2
Ralston, S.H.3
Bergmann, C.4
Van Hul, W.5
-
35
-
-
13444306158
-
Toward an understanding of dural ectasia: A light microscopy study in a murine model of Marfan syndrome
-
Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD (2005) Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine 30:291-293
-
(2005)
Spine
, vol.30
, pp. 291-293
-
-
Jones, K.B.1
Myers, L.2
Judge, D.P.3
Kirby, P.A.4
Dietz, H.C.5
Sponseller, P.D.6
-
36
-
-
4043070821
-
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
-
Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC (2004) Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 114:172-181
-
(2004)
J Clin Invest
, vol.114
, pp. 172-181
-
-
Judge, D.P.1
Biery, N.J.2
Keene, D.R.3
Geubtner, J.4
Myers, L.5
Huso, D.L.6
Sakai, L.Y.7
Dietz, H.C.8
-
37
-
-
0037370510
-
Fibrillin controls TGF-beta activation
-
Kaartinen V, Warburton D (2003) Fibrillin controls TGF-beta activation. Nat Genet 33:331-332
-
(2003)
Nat Genet
, vol.33
, pp. 331-332
-
-
Kaartinen, V.1
Warburton, D.2
-
38
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L (1994) Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6:64-69
-
(1994)
Nat Genet
, vol.6
, pp. 64-69
-
-
Kainulainen, K.1
Karttunen, L.2
Puhakka, L.3
Sakai, L.4
Peltonen, L.5
-
39
-
-
0036024849
-
TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies
-
Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN (2002) TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum Mutat 20:197-208
-
(2002)
Hum Mutat
, vol.20
, pp. 197-208
-
-
Katzke, S.1
Booms, P.2
Tiecke, F.3
Palz, M.4
Pletschacher, A.5
Turkmen, S.6
Neumann, L.M.7
Pregla, R.8
Leitner, C.9
Schramm, C.10
Lorenz, P.11
Hagemeier, C.12
Fuchs, J.13
Skovby, F.14
Rosenberg, T.15
Robinson, P.N.16
-
40
-
-
28644435495
-
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome
-
Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW (2005) Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. Clin Genet 68:561-563
-
(2005)
Clin Genet
, vol.68
, pp. 561-563
-
-
Ki, C.S.1
Jin, D.K.2
Chang, S.H.3
Kim, J.E.4
Kim, J.W.5
Park, B.K.6
Choi, J.H.7
Park, I.S.8
Yoo, H.W.9
-
42
-
-
0033822170
-
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
-
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K (2000) Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 26:19-20
-
(2000)
Nat Genet
, vol.26
, pp. 19-20
-
-
Kinoshita, A.1
Saito, T.2
Tomita, H.3
Makita, Y.4
Yoshida, K.5
Ghadami, M.6
Yamada, K.7
Kondo, S.8
Ikegawa, S.9
Nishimura, G.10
Fukushima, Y.11
Nakagomi, T.12
Saito, H.13
Sugimoto, T.14
Kamegaya, M.15
Hisa, K.16
Murray, J.C.17
Taniguchi, N.18
Niikawa, N.19
Yoshiura, K.20
more..
-
43
-
-
30144438033
-
Molecular pathology of Shprintzen-Goldberg syndrome
-
author reply 109-110
-
Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T (2006) Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 140:104-108; author reply 109-110
-
(2006)
Am J Med Genet A
, vol.140
, pp. 104-108
-
-
Kosaki, K.1
Takahashi, D.2
Udaka, T.3
Kosaki, R.4
Matsumoto, M.5
Ibe, S.6
Isobe, T.7
Tanaka, Y.8
Takahashi, T.9
-
44
-
-
33845898971
-
Clinical findings in a large family with a predisposition to aortic dilatation and dissection and an R460H mutation in TGFBR2
-
Law C, Bunyan D, Castle B, Day L, Keeton B, Simpson I, Westwood G (2005) Clinical findings in a large family with a predisposition to aortic dilatation and dissection and an R460H mutation in TGFBR2. J Med Genet 42 [Suppl 1]:S31
-
(2005)
J Med Genet
, vol.42
, Issue.SUPPL. 1
-
-
Law, C.1
Bunyan, D.2
Castle, B.3
Day, L.4
Keeton, B.5
Simpson, I.6
Westwood, G.7
-
45
-
-
33845897771
-
Clinical features in a family with a R460H mutation in TGFBR2
-
(in press)
-
Law CJ, Bunyan D, Castle B, Day L, Simpson I, Westwood G, Keeton B (2006) Clinical features in a family with a R460H mutation in TGFBR2. J Med Genet (in press)
-
(2006)
J Med Genet
-
-
Law, C.J.1
Bunyan, D.2
Castle, B.3
Day, L.4
Simpson, I.5
Westwood, G.6
Keeton, B.7
-
46
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
-
Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352:330-334
-
(1991)
Nature
, vol.352
, pp. 330-334
-
-
Lee, B.1
Godfrey, M.2
Vitale, E.3
Hori, H.4
Mattei, M.G.5
Sarfarazi, M.6
Tsipouras, P.7
Ramirez, F.8
Hollister, D.W.9
-
47
-
-
0035851312
-
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
-
Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A (2001) Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 161:2447-2454
-
(2001)
Arch Intern Med
, vol.161
, pp. 2447-2454
-
-
Loeys, B.1
Nuytinck, L.2
Delvaux, I.3
De Bie, S.4
De Paepe, A.5
-
48
-
-
3442886498
-
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
-
Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A (2004) Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24:140-146
-
(2004)
Hum Mutat
, vol.24
, pp. 140-146
-
-
Loeys, B.1
De Backer, J.2
Van Acker, P.3
Wettinck, K.4
Pals, G.5
Nuytinck, L.6
Coucke, P.7
De Paepe, A.8
-
49
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275-281
-
(2005)
Nat Genet
, vol.37
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
Judge, D.P.4
Podowski, M.5
Holm, T.6
Meyers, J.7
Leitch, C.C.8
Katsanis, N.9
Sharifi, N.10
Xu, F.L.11
Myers, L.A.12
Spevak, P.J.13
Cameron, D.E.14
De Backer, J.15
Hellemans, J.16
Chen, Y.17
Davis, E.C.18
Webb, C.L.19
Kress, W.20
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
50
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788-798
-
(2006)
N Engl J Med
, vol.355
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
Callewaert, B.L.4
Thomas, G.H.5
Pannu, H.6
De Backer, J.F.7
Oswald, G.L.8
Symoens, S.9
Manouvrier, S.10
Roberts, A.E.11
Faravelli, F.12
Greco, M.A.13
Pyeritz, R.E.14
Milewicz, D.M.15
Coucke, P.J.16
Cameron, D.E.17
Braverman, A.C.18
Byers, P.H.19
De Paepe, A.M.20
Dietz, H.C.21
more..
-
51
-
-
0034644472
-
TGFbeta signaling in growth control, cancer, and heritable disorders
-
Massague J, Blain SW, Lo RS (2000) TGFbeta signaling in growth control, cancer, and heritable disorders. Cell 103:295-309
-
(2000)
Cell
, vol.103
, pp. 295-309
-
-
Massague, J.1
Blain, S.W.2
Lo, R.S.3
-
52
-
-
33747016789
-
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
-
Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berer W, Steinmann B (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 27:760-769
-
(2006)
Hum Mutat
, vol.27
, pp. 760-769
-
-
Matyas, G.1
Arnold, E.2
Carrel, T.3
Baumgartner, D.4
Boileau, C.5
Berer, W.6
Steinmann, B.7
-
53
-
-
0029801012
-
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms
-
Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A (1996) Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 94:2708-2711
-
(1996)
Circulation
, vol.94
, pp. 2708-2711
-
-
Milewicz, D.M.1
Michael, K.2
Fisher, N.3
Coselli, J.S.4
Markello, T.5
Biddinger, A.6
-
54
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36:855-860
-
(2004)
Nat Genet
, vol.36
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beroud, G.2
Akiyama, T.3
Abifadel, M.4
Harada, N.5
Morisaki, T.6
Allard, D.7
Varret, M.8
Claustres, M.9
Morisaki, H.10
Ihara, M.11
Kinoshita, A.12
Yoshiura, K.13
Junien, C.14
Kajii, T.15
Jondeau, G.16
Ohta, T.17
Kishino, T.18
Furukawa, Y.19
Nakamura, Y.20
Niikawa, N.21
Boileau, C.22
Matsumoto, N.23
more..
-
55
-
-
0037373277
-
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
-
Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407-411
-
(2003)
Nat Genet
, vol.33
, pp. 407-411
-
-
Neptune, E.R.1
Frischmeyer, P.A.2
Arking, D.E.3
Myers, L.4
Bunton, T.E.5
Gayraud, B.6
Ramirez, F.7
Sakai, L.Y.8
Dietz, H.C.9
-
56
-
-
15244363856
-
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
-
Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JM, Mecham RP, Judge DP, Dietz HC (2004) TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114:1586-1592
-
(2004)
J Clin Invest
, vol.114
, pp. 1586-1592
-
-
Ng, C.M.1
Cheng, A.2
Myers, L.A.3
Martinez-Murillo, F.4
Jie, C.5
Bedja, D.6
Gabrielson, K.L.7
Hausladen, J.M.8
Mecham, R.P.9
Judge, D.P.10
Dietz, H.C.11
-
57
-
-
23044438103
-
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections
-
Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM (2005a) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112:513-520
-
(2005)
Circulation
, vol.112
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.T.2
Chang, J.3
Lafont, A.4
Hasham, S.N.5
Sparks, E.6
Giampietro, P.F.7
Zaleski, C.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.11
Willing, M.C.12
Raman, C.S.13
Milewicz, D.M.14
-
59
-
-
0031252407
-
Targeting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
-
Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F (1997) Targeting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 17:218-222
-
(1997)
Nat Genet
, vol.17
, pp. 218-222
-
-
Pereira, L.1
Andrikopoulos, K.2
Tian, J.3
Lee, S.Y.4
Keene, D.R.5
Ono, R.6
Reinhardt, D.P.7
Sakai, L.Y.8
Biery, N.J.9
Bunton, T.10
Dietz, H.C.11
Ramirez, F.12
-
60
-
-
13044266360
-
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1
-
Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F (1999) Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A 96:3819-3823
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 3819-3823
-
-
Pereira, L.1
Lee, S.Y.2
Gayraud, B.3
Andrikopoulos, K.4
Shapiro, S.D.5
Bunton, T.6
Biery, N.J.7
Dietz, H.C.8
Sakai, L.Y.9
Ramirez, F.10
-
61
-
-
11144328149
-
Fibrillin microfibrils: Multipurpose extracellular networks in organismal physiology
-
Ramirez F, Sakai LY, Dietz HC, Rifkin DB (2004) Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics 19:151-154
-
(2004)
Physiol Genomics
, vol.19
, pp. 151-154
-
-
Ramirez, F.1
Sakai, L.Y.2
Dietz, H.C.3
Rifkin, D.B.4
-
62
-
-
14844302670
-
Latent transforming growth factor-beta (TGF-beta) binding proteins: Orchestrators of TGF-beta availability
-
Rifkin DB (2005) Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability. J Biol Chem 280:7409-7412
-
(2005)
J Biol Chem
, vol.280
, pp. 7409-7412
-
-
Rifkin, D.B.1
-
63
-
-
0034017021
-
The molecular genetics of Marfan syndrome and related microfibrillopathies
-
Robinson PN, Godfrey M (2000) The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 37:9-25
-
(2000)
J Med Genet
, vol.37
, pp. 9-25
-
-
Robinson, P.N.1
Godfrey, M.2
-
64
-
-
19944363541
-
Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
-
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, Konig R, Mitulla B, Muller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S (2005) Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A 135:251-262
-
(2005)
Am J Med Genet A
, vol.135
, pp. 251-262
-
-
Robinson, P.N.1
Neumann, L.M.2
Demuth, S.3
Enders, H.4
Jung, U.5
Konig, R.6
Mitulla, B.7
Muller, D.8
Muschke, P.9
Pfeiffer, L.10
Prager, B.11
Somer, M.12
Tinschert, S.13
-
65
-
-
30144432503
-
Response to Kosaki et al. "Molecular pathology of Shprintzen-Goldberg syndrome"
-
Robinson P, Neumann L, Tinschert S (2006) Response to Kosaki et al. "Molecular pathology of Shprintzen-Goldberg syndrome". Am J Med Genet 140A:109-110
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 109-110
-
-
Robinson, P.1
Neumann, L.2
Tinschert, S.3
-
66
-
-
0036831595
-
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations
-
Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2002) Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat 20:406-407
-
(2002)
Hum Mutat
, vol.20
, pp. 406-407
-
-
Rommel, K.1
Karck, M.2
Haverich, A.3
Schmidtke, J.4
Arslan-Kirchner, M.5
-
67
-
-
28844458691
-
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome
-
Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Muller G, Singh KK, Schmidtke J, Arslan-Kirchner M (2005) Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat 26:529-539
-
(2005)
Hum Mutat
, vol.26
, pp. 529-539
-
-
Rommel, K.1
Karck, M.2
Haverich, A.3
Von Kodolitsch, Y.4
Rybczynski, M.5
Muller, G.6
Singh, K.K.7
Schmidtke, J.8
Arslan-Kirchner, M.9
-
68
-
-
33746590708
-
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes
-
Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N (2006) Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A 140:1719-1725
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1719-1725
-
-
Sakai, H.1
Visser, R.2
Ikegawa, S.3
Ito, E.4
Numabe, H.5
Watanabe, Y.6
Mikami, H.7
Kondoh, T.8
Kitoh, H.9
Sugiyama, R.10
Okamoto, N.11
Ogata, T.12
Fodde, R.13
Mizuno, S.14
Takamura, K.15
Egashira, M.16
Sasaki, N.17
Watanabe, S.18
Nishimaki, S.19
Takada, F.20
Nagai, T.21
Okada, Y.22
Aoka, Y.23
Yasuda, K.24
Iwasa, M.25
Kogaki, S.26
Harada, N.27
Mizuguchi, T.28
Matsumoto, N.29
more..
-
69
-
-
0036071270
-
Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes
-
Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U (2002) Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 71:223-237
-
(2002)
Am J Hum Genet
, vol.71
, pp. 223-237
-
-
Schrijver, I.1
Liu, W.2
Odom, R.3
Brenn, T.4
Oefner, P.5
Furthmayr, H.6
Francke, U.7
-
70
-
-
0033577851
-
Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation
-
Serra R, Karaplis A, Sohn P (1999) Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation. J Cell Biol 145:783-794
-
(1999)
J Cell Biol
, vol.145
, pp. 783-794
-
-
Serra, R.1
Karaplis, A.2
Sohn, P.3
-
71
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 27: 770-777
-
(2006)
Hum Mutat
, vol.27
, pp. 770-777
-
-
Singh, K.K.1
Rommel, K.2
Mishra, A.3
Karck, M.4
Haverich, A.5
Schmidtke, J.6
Arslan-Kirchner, M.7
-
72
-
-
0030020322
-
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
-
Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC (1996) Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12:209-211
-
(1996)
Nat Genet
, vol.12
, pp. 209-211
-
-
Sood, S.1
Eldadah, Z.A.2
Krause, W.L.3
McIntosh, I.4
Dietz, H.C.5
-
73
-
-
0029944441
-
Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors
-
ten Dijke P, Miyazono K, Heldin CH (1996) Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors. Curr Opin Cell Biol 8:139-145
-
(1996)
Curr Opin Cell Biol
, vol.8
, pp. 139-145
-
-
Ten Dijke, P.1
Miyazono, K.2
Heldin, C.H.3
-
74
-
-
0027379305
-
Mutation screening of complete fibrillin-1 coding sequence: Report of five new mutations, including two in 8-cysteine domains
-
Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U (1993) Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 2:1813-1821
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1813-1821
-
-
Tynan, K.1
Comeau, K.2
Pearson, M.3
Wilgenbus, P.4
Levitt, D.5
Gasner, C.6
Berg, M.A.7
Miller, D.C.8
Francke, U.9
-
75
-
-
0035933002
-
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
-
Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT (2001) Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103:2469-2475
-
(2001)
Circulation
, vol.103
, pp. 2469-2475
-
-
Vaughan, C.J.1
Casey, M.2
He, J.3
Veugelers, M.4
Henderson, K.5
Guo, D.6
Campagna, R.7
Roman, M.J.8
Milewicz, D.M.9
Devereux, R.B.10
Basson, C.T.11
-
76
-
-
0029022221
-
GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex
-
Wieser R, Wrana JL, Massague J (1995) GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex. EMBO J 14:2199-2208
-
(1995)
EMBO J
, vol.14
, pp. 2199-2208
-
-
Wieser, R.1
Wrana, J.L.2
Massague, J.3
-
77
-
-
0028170226
-
Mechanism of activation of the TGF-beta receptor
-
Wrana JL, Attisano L, Wieser R, Ventura F, Massague J (1994) Mechanism of activation of the TGF-beta receptor. Nature 370:341-347
-
(1994)
Nature
, vol.370
, pp. 341-347
-
-
Wrana, J.L.1
Attisano, L.2
Wieser, R.3
Ventura, F.4
Massague, J.5
|