-
1
-
-
0037093750
-
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
-
Adѐs, L.C., Sreetharan, D., Onikul, E., Stockton, V., Watson, K.C., Holman, K.J., Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. Am. J. Med. Genet. 109 (2002), 261–270.
-
(2002)
Am. J. Med. Genet.
, vol.109
, pp. 261-270
-
-
Adѐs, L.C.1
Sreetharan, D.2
Onikul, E.3
Stockton, V.4
Watson, K.C.5
Holman, K.J.6
-
2
-
-
62649175429
-
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis
-
Ahram, D., Sato, T.S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H., A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am. J. Hum. Genet. 84 (2009), 274–278.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 274-278
-
-
Ahram, D.1
Sato, T.S.2
Kohilan, A.3
Tayeh, M.4
Chen, S.5
Leal, S.6
Al-Salem, M.7
El-Shanti, H.8
-
3
-
-
84929759182
-
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele
-
Aubart, M., Gross, M.S., Hanna, N., Zabot, M.T., Sznajder, M., Detaint, D., Gouya, L., Jondeau, G., Boileau, C., Stheneur, C., The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Hum. Mol. Genet. 24 (2015), 2764–2770.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 2764-2770
-
-
Aubart, M.1
Gross, M.S.2
Hanna, N.3
Zabot, M.T.4
Sznajder, M.5
Detaint, D.6
Gouya, L.7
Jondeau, G.8
Boileau, C.9
Stheneur, C.10
-
4
-
-
84870391247
-
A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1, fibrillin-2, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module
-
Bader, H.L., Wang, L.W., Ho, J.C., Tran, T., Holden, P., Fitzgerald, J., Atit, R.P., Reinhardt, D.P., Apte, S.S., A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1, fibrillin-2, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module. Matrix Biol. 31 (2012), 398–411.
-
(2012)
Matrix Biol.
, vol.31
, pp. 398-411
-
-
Bader, H.L.1
Wang, L.W.2
Ho, J.C.3
Tran, T.4
Holden, P.5
Fitzgerald, J.6
Atit, R.P.7
Reinhardt, D.P.8
Apte, S.S.9
-
5
-
-
0035809912
-
The supramolecular organization of fibrillin-rich microfibrils
-
Baldock, C., Koster, A.J., Ziese, U., Rock, M.J., Sherratt, M.J., Kadler, K.E., Shuttleworth, C.A., Kielty, C.M., The supramolecular organization of fibrillin-rich microfibrils. J. Cell Biol. 152 (2001), 1045–1056.
-
(2001)
J. Cell Biol.
, vol.152
, pp. 1045-1056
-
-
Baldock, C.1
Koster, A.J.2
Ziese, U.3
Rock, M.J.4
Sherratt, M.J.5
Kadler, K.E.6
Shuttleworth, C.A.7
Kielty, C.M.8
-
6
-
-
84938508858
-
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events
-
Baudhuin, L.M., Kotzer, K.E., Lagerstedt, S.A., Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. Genet. Med. 17 (2015), 177–187.
-
(2015)
Genet. Med.
, vol.17
, pp. 177-187
-
-
Baudhuin, L.M.1
Kotzer, K.E.2
Lagerstedt, S.A.3
-
7
-
-
84933037220
-
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
-
Bertoli-Avella, A.M., Gillis, E., Morisaki, H., Verhagen, J.M., de Graaf, B.M., van de Beek, G., Gallo, E., Kruithof, B.P., Venselaar, H., Myers, L.A., Laga, S., Doyle, A.J., Oswald, G., van Cappellen, G.W., Yamanaka, I., van der Helm, R.M., Beverloo, B., de Klein, A., Pardo, L., Lammens, M., Evers, C., Devriendt, K., Dumoulein, M., Timmermans, J., Bruggenwirth, H.T., Verheijen, F., Rodrigus, I., Baynam, G., Kempers, M., Saenen, J., Van Craenenbroeck, E.M., Minatoya, K., Matsukawa, R., Tsukube, T., Kubo, N., Hofstra, R., Goumans, M.J., Bekkers, J.A., Roos-Hesselink, J.W., van de Laar, I.M., Dietz, H.C., Van Laer, L., Morisaki, T., Wessels, M.W., Loeys, B.L., Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J. Am. Coll. Cardiol. 65 (2015), 1324–1336.
-
(2015)
J. Am. Coll. Cardiol.
, vol.65
, pp. 1324-1336
-
-
Bertoli-Avella, A.M.1
Gillis, E.2
Morisaki, H.3
Verhagen, J.M.4
de Graaf, B.M.5
van de Beek, G.6
Gallo, E.7
Kruithof, B.P.8
Venselaar, H.9
Myers, L.A.10
Laga, S.11
Doyle, A.J.12
Oswald, G.13
van Cappellen, G.W.14
Yamanaka, I.15
van der Helm, R.M.16
Beverloo, B.17
de Klein, A.18
Pardo, L.19
Lammens, M.20
Evers, C.21
Devriendt, K.22
Dumoulein, M.23
Timmermans, J.24
Bruggenwirth, H.T.25
Verheijen, F.26
Rodrigus, I.27
Baynam, G.28
Kempers, M.29
Saenen, J.30
Van Craenenbroeck, E.M.31
Minatoya, K.32
Matsukawa, R.33
Tsukube, T.34
Kubo, N.35
Hofstra, R.36
Goumans, M.J.37
Bekkers, J.A.38
Roos-Hesselink, J.W.39
van de Laar, I.M.40
Dietz, H.C.41
Van Laer, L.42
Morisaki, T.43
Wessels, M.W.44
Loeys, B.L.45
more..
-
8
-
-
43049138393
-
Severe Marfan syndrome due to FBN1 exon deletions
-
Blyth, M., Foulds, N., Turner, C., Bunyan, D., Severe Marfan syndrome due to FBN1 exon deletions. Am. J. Med. Genet. A 146A (2008), 1320–1324.
-
(2008)
Am. J. Med. Genet. A
, vol.146A
, pp. 1320-1324
-
-
Blyth, M.1
Foulds, N.2
Turner, C.3
Bunyan, D.4
-
9
-
-
84864411184
-
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
-
Boileau, C., Guo, D.C., Hanna, N., Regalado, E.S., Detaint, D., Gong, L., Varret, M., Prakash, S.K., Li, A.H., d'Indy, H., Braverman, A.C., Grandchamp, B., Kwartier, C.S., Guoya, L., Santos-Cortez, R.L., Abifadel, M., Leal, S.M., Muti, C., Shendure, J., Gross, M.S., Rieder, M.J., Vahanian, A., Nickerson, D.A., Michel, J.B., National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau, G., Milewicz, D.M., TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat. Genet. 44 (2012), 916–921.
-
(2012)
Nat. Genet.
, vol.44
, pp. 916-921
-
-
Boileau, C.1
Guo, D.C.2
Hanna, N.3
Regalado, E.S.4
Detaint, D.5
Gong, L.6
Varret, M.7
Prakash, S.K.8
Li, A.H.9
d'Indy, H.10
Braverman, A.C.11
Grandchamp, B.12
Kwartier, C.S.13
Guoya, L.14
Santos-Cortez, R.L.15
Abifadel, M.16
Leal, S.M.17
Muti, C.18
Shendure, J.19
Gross, M.S.20
Rieder, M.J.21
Vahanian, A.22
Nickerson, D.A.23
Michel, J.B.24
National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project,25
Jondeau, G.26
Milewicz, D.M.27
more..
-
10
-
-
84964315986
-
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis
-
Buchan, J.G., Alvarado, D.M., Haller, G.E., Cruchaga, C., Harms, M.B., Zhang, T., Willing, M.C., Grange, D.K., Braverman, A.C., Miller, N.H., Morcuende, J.A., Tang, N.L., Lam, T.P., Ng, B.K., Cheng, J.C., Dobbs, M.B., Gurnett, C.A., Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum. Mol. Genet. 23 (2014), 5271–5282.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 5271-5282
-
-
Buchan, J.G.1
Alvarado, D.M.2
Haller, G.E.3
Cruchaga, C.4
Harms, M.B.5
Zhang, T.6
Willing, M.C.7
Grange, D.K.8
Braverman, A.C.9
Miller, N.H.10
Morcuende, J.A.11
Tang, N.L.12
Lam, T.P.13
Ng, B.K.14
Cheng, J.C.15
Dobbs, M.B.16
Gurnett, C.A.17
-
11
-
-
84924218597
-
Gene panel sequencing in heritable thoracic aortic disorders and related entities—results of comprehensive testing in a cohort of 264 patients
-
Campens, L., Callewaert, B., Muiño Mosquera, L., Renard, M., Symoens, S., De Paepe, A., Coucke, P., De Backer, J., Gene panel sequencing in heritable thoracic aortic disorders and related entities—results of comprehensive testing in a cohort of 264 patients. Orphanet J. Rare Dis., 10, 2015, 9.
-
(2015)
Orphanet J. Rare Dis.
, vol.10
, pp. 9
-
-
Campens, L.1
Callewaert, B.2
Muiño Mosquera, L.3
Renard, M.4
Symoens, S.5
De Paepe, A.6
Coucke, P.7
De Backer, J.8
-
12
-
-
33646340434
-
Fibrillins 1 and 2 perform partially overlapping functions during aortic development
-
Carta, L., Pereira, L., Arteaga-Solis, E., Lee-Arteaga, S.Y., Lenart, B., Starcher, B., Merkel, C.A., Sukoyan, M., Kerkis, A., Hazeki, N., Keene, D.R., Sakai, L.Y., Ramirez, F., Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J. Biol. Chem. 281 (2006), 8016–8023.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 8016-8023
-
-
Carta, L.1
Pereira, L.2
Arteaga-Solis, E.3
Lee-Arteaga, S.Y.4
Lenart, B.5
Starcher, B.6
Merkel, C.A.7
Sukoyan, M.8
Kerkis, A.9
Hazeki, N.10
Keene, D.R.11
Sakai, L.Y.12
Ramirez, F.13
-
13
-
-
84922723310
-
The revised ghent nosology; reclassifying isolated ectopia lentis
-
Chandra, A., Patel, D., Aragon-Martin, J.A., Pinard, A., Collod-Béroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A.H., Arno, G., The revised ghent nosology; reclassifying isolated ectopia lentis. Clin. Genet. 87 (2015), 284–287.
-
(2015)
Clin. Genet.
, vol.87
, pp. 284-287
-
-
Chandra, A.1
Patel, D.2
Aragon-Martin, J.A.3
Pinard, A.4
Collod-Béroud, G.5
Comeglio, P.6
Boileau, C.7
Faivre, L.8
Charteris, D.9
Child, A.H.10
Arno, G.11
-
14
-
-
0037462816
-
Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences
-
Charbonneau, N.L., Dzamba, B.J., Ono, R.N., Keene, D.R., Corson, G.M., Reinhardt, D.P., Sakai, L.Y., Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences. J. Biol. Chem. 278 (2003), 2740–2749.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 2740-2749
-
-
Charbonneau, N.L.1
Dzamba, B.J.2
Ono, R.N.3
Keene, D.R.4
Corson, G.M.5
Reinhardt, D.P.6
Sakai, L.Y.7
-
15
-
-
77953735379
-
Microfibril structure masks fibrillin-2 in postnatal tissues
-
Charbonneau, N.L., Jordan, C.D., Keene, D.R., Lee-Arteaga, S., Dietz, H.C., Rifkin, D.B., Ramirez, F., Sakai, L.Y., Microfibril structure masks fibrillin-2 in postnatal tissues. J. Biol. Chem. 285 (2010), 20242–20251.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 20242-20251
-
-
Charbonneau, N.L.1
Jordan, C.D.2
Keene, D.R.3
Lee-Arteaga, S.4
Dietz, H.C.5
Rifkin, D.B.6
Ramirez, F.7
Sakai, L.Y.8
-
16
-
-
77955297956
-
In vivo studies of mutant fibrillin-1 microfibrils
-
Charbonneau, N.L., Carlson, E.J., Tufa, S., Sengle, G., Manalo, E.C., Carlberg, V.M., Ramirez, F., Keene, D.R., Sakai, L.Y., In vivo studies of mutant fibrillin-1 microfibrils. J. Biol. Chem. 285 (2010), 24943–24955.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 24943-24955
-
-
Charbonneau, N.L.1
Carlson, E.J.2
Tufa, S.3
Sengle, G.4
Manalo, E.C.5
Carlberg, V.M.6
Ramirez, F.7
Keene, D.R.8
Sakai, L.Y.9
-
17
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
-
Cohn, R.D., van Erp, C., Habashi, J.P., Soleimani, A.A., Klein, E.C., Lisi, M.T., Gamradt, M., ap Rhys, C.M., Holm, T.M., Loeys, B.L., Ramirez, F., Judge, D.P., Ward, C.W., Dietz, H.C., Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat. Med. 13 (2007), 204–210.
-
(2007)
Nat. Med.
, vol.13
, pp. 204-210
-
-
Cohn, R.D.1
van Erp, C.2
Habashi, J.P.3
Soleimani, A.A.4
Klein, E.C.5
Lisi, M.T.6
Gamradt, M.7
ap Rhys, C.M.8
Holm, T.M.9
Loeys, B.L.10
Ramirez, F.11
Judge, D.P.12
Ward, C.W.13
Dietz, H.C.14
-
18
-
-
0033364732
-
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation
-
Collod-Béroud, G., Lackmy-Port-Lys, M., Jondeau, G., Mathieu, M., Maingourd, Y., Coulon, M., Guillotel, M., Junien, C., Boileau, C., Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am. J. Hum. Genet. 65 (1999), 917–921.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 917-921
-
-
Collod-Béroud, G.1
Lackmy-Port-Lys, M.2
Jondeau, G.3
Mathieu, M.4
Maingourd, Y.5
Coulon, M.6
Guillotel, M.7
Junien, C.8
Boileau, C.9
-
19
-
-
17144446828
-
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database
-
Collod-Béroud, G., Le Bourdelles, S., Ades, L., Ala-Kokko, L., Booms, P., Boxer, M., Child, A., Comeglio, P., De Paepe, A., Hyland, J.C., Holman, K., Kaitila, I., Loeys, B., Matyas, G., Nuytinck, L., Peltonen, L., Rantamaki, T., Robinson, P., Steinmann, B., Junien, C., Béroud, C., Boileau, C., Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum. Mutat. 22 (2003), 199–208.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 199-208
-
-
Collod-Béroud, 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
Béroud, C.21
Boileau, C.22
more..
-
20
-
-
0036893786
-
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
-
Comeglio, P., Evans, A.L., Brice, G., Cooling, R.J., Child, A.H., Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br. J. Ophthalmol. 86 (2002), 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
-
21
-
-
34848816232
-
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations
-
Comeglio, P., Johnson, P., Arno, G., Brice, G., Evans, A., Aragon-Martin, J., da Silva, F.P., Kiotsekoglou, A., Child, A., The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum. Mutat., 28, 2007, 928.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 928
-
-
Comeglio, P.1
Johnson, P.2
Arno, G.3
Brice, G.4
Evans, A.5
Aragon-Martin, J.6
da Silva, F.P.7
Kiotsekoglou, A.8
Child, A.9
-
22
-
-
84896766570
-
Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome
-
Cook, J.R., Carta, L., Bénard, L., Chemaly, E.R., Chiu, E., Rao, S.K., Hampton, T.G., Yurchenco, P., GenTAC Registry Consortium, Costa, K.D., Hajjar, R.J., Ramirez, F., Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J. Clin. Invest. 124 (2014), 1329–1339.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 1329-1339
-
-
Cook, J.R.1
Carta, L.2
Bénard, L.3
Chemaly, E.R.4
Chiu, E.5
Rao, S.K.6
Hampton, T.G.7
Yurchenco, P.8
GenTAC Registry Consortium9
Costa, K.D.10
Hajjar, R.J.11
Ramirez, F.12
-
23
-
-
84933677647
-
Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome
-
Cook, J.R., Clayton, N.P., Carta, L., Galatioto, J., Chiu, E., Smaldone, S., Nelson, C.A., Cheng, S.H., Wentworth, B.M., Ramirez, F., Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome. Arterioscler. Thromb. Vasc. Biol. 35 (2015), 911–917.
-
(2015)
Arterioscler. Thromb. Vasc. Biol.
, vol.35
, pp. 911-917
-
-
Cook, J.R.1
Clayton, N.P.2
Carta, L.3
Galatioto, J.4
Chiu, E.5
Smaldone, S.6
Nelson, C.A.7
Cheng, S.H.8
Wentworth, B.M.9
Ramirez, F.10
-
24
-
-
0027257818
-
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end
-
Corson, G.M., Chalberg, S.C., Dietz, H.C., Charbonneau, N.L., Sakai, L.Y., Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 17 (1993), 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
-
25
-
-
1242271343
-
Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues
-
Corson, G.M., Charbonneau, N.L., Keene, D.R., Sakai, L.Y., Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. Genomics 83 (2004), 461–472.
-
(2004)
Genomics
, vol.83
, pp. 461-472
-
-
Corson, G.M.1
Charbonneau, N.L.2
Keene, D.R.3
Sakai, L.Y.4
-
26
-
-
6344237724
-
ADAMTS10 mutations in autosomal recessive Weill–Marchesani syndrome
-
Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Mégarbané, A., Alswaid, A., Dolifus, H., Alembik, Y., Munnich, A., Leqeai-Mallet, L., Cormier-Daire, V., ADAMTS10 mutations in autosomal recessive Weill–Marchesani syndrome. Am. J. Hum. Genet. 75 (2004), 801–806.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 801-806
-
-
Dagoneau, N.1
Benoist-Lasselin, C.2
Huber, C.3
Faivre, L.4
Mégarbané, A.5
Alswaid, A.6
Dolifus, H.7
Alembik, Y.8
Munnich, A.9
Leqeai-Mallet, L.10
Cormier-Daire, V.11
-
27
-
-
0028885716
-
Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein
-
Dallas, S.L., Miyazono, K., Skerry, T.M., Mundy, G.R., Bonewald, L.F., Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J. Cell Biol. 131 (1995), 539–549.
-
(1995)
J. Cell Biol.
, vol.131
, pp. 539-549
-
-
Dallas, S.L.1
Miyazono, K.2
Skerry, T.M.3
Mundy, G.R.4
Bonewald, L.F.5
-
28
-
-
34548133577
-
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
-
De Backer, J., Loeys, B., Leroy, B., Coucke, P., Dietz, H., De Paepe, A., Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin. Genet. 72 (2007), 188–198.
-
(2007)
Clin. Genet.
, vol.72
, pp. 188-198
-
-
De Backer, J.1
Loeys, B.2
Leroy, B.3
Coucke, P.4
Dietz, H.5
De Paepe, A.6
-
29
-
-
0028852659
-
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
-
Dietz, H.C., Pyeritz, R.E., Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Mol. Genet. 4 (1995), 1799–1809.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1799-1809
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
30
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz, H.C., Cutting, G.R., Pyeritz, R.E., Maslen, C.L., Sakai, L.Y., Corson, G.M., Puffenberger, E.G., Hamosh, A., Nanthakumar, E.J., Curristin, S.M., Stetten, G., Meyers, D.A., Francomano, C.A., Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 (1991), 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
Stetten, G.11
Meyers, D.A.12
Francomano, C.A.13
-
31
-
-
84862763855
-
Matrix-dependent perturbation of TGFβ signaling and disease
-
Doyle, J.J., Gerber, E.E., Dietz, H.C., Matrix-dependent perturbation of TGFβ signaling and disease. FEBS Lett. 586 (2012), 2003–2015.
-
(2012)
FEBS Lett.
, vol.586
, pp. 2003-2015
-
-
Doyle, J.J.1
Gerber, E.E.2
Dietz, H.C.3
-
32
-
-
34247844652
-
Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin
-
El-Hallous, E., Sasaki, T., Hubmacher, D., Getie, M., Tiedemann, K., Brinckmann, J., Bӓtge, B., Davis, E.C., Reinhardt, D.P., Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. J. Biol. Chem. 282 (2007), 8935–8946.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 8935-8946
-
-
El-Hallous, E.1
Sasaki, T.2
Hubmacher, D.3
Getie, M.4
Tiedemann, K.5
Brinckmann, J.6
Bӓtge, B.7
Davis, E.C.8
Reinhardt, D.P.9
-
33
-
-
33646563777
-
Guest editorial letter: molecular machines in the matrix?
-
Engel, J., Guest editorial letter: molecular machines in the matrix?. Matrix Biol. 25 (2006), 200–201.
-
(2006)
Matrix Biol.
, vol.25
, pp. 200-201
-
-
Engel, J.1
-
34
-
-
84981818490
-
Ultrastructural studies on early elastogenesis
-
Fahrenbach, W.H., Sandberg, L.B., Cleary, E.G., Ultrastructural studies on early elastogenesis. Anat. Rec. 155 (1966), 563–575.
-
(1966)
Anat. Rec.
, vol.155
, pp. 563-575
-
-
Fahrenbach, W.H.1
Sandberg, L.B.2
Cleary, E.G.3
-
35
-
-
0037238770
-
In frame fibrillin-1 gene deletion in autosomal dominant Weill–Marchesani syndrome
-
Faivre, L., Gorlin, R.J., Wirtz, M.K., Godfrey, M., Dagoneau, N., Samples, J.R., Le Merrer, M., Collod-Bѐroud, G., Boileau, C., Munnich, A., Cormier-Daire, V., In frame fibrillin-1 gene deletion in autosomal dominant Weill–Marchesani syndrome. J. Med. Genet. 40 (2003), 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-Bѐroud, G.8
Boileau, C.9
Munnich, A.10
Cormier-Daire, V.11
-
36
-
-
34548232284
-
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
-
Faivre, L., Collod-Béroud, G., Loeys, B.L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H.C., Halliday, D., Béroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P.N., Adѐs, L.C., Biggin, A., Benetts, B., Brett, M., Holman, K.J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C., Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am. J. Hum. Genet. 81 (2007), 454–466.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 454-466
-
-
Faivre, L.1
Collod-Béroud, G.2
Loeys, B.L.3
Child, A.4
Binquet, C.5
Gautier, E.6
Callewaert, B.7
Arbustini, E.8
Mayer, K.9
Arslan-Kirchner, M.10
Kiotsekoglou, A.11
Comeglio, P.12
Marziliano, N.13
Dietz, H.C.14
Halliday, D.15
Béroud, C.16
Bonithon-Kopp, C.17
Claustres, M.18
Muti, C.19
Plauchu, H.20
Robinson, P.N.21
Adѐs, L.C.22
Biggin, A.23
Benetts, B.24
Brett, M.25
Holman, K.J.26
De Backer, J.27
Coucke, P.28
Francke, U.29
De Paepe, A.30
Jondeau, G.31
Boileau, C.32
more..
-
37
-
-
59449108914
-
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
-
Faivre, L., Masurel-Paulet, A., Collod-Béroud, G., Callewaert, B.L., Child, A.H., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Loeys, B.L., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Halliday, D.J., Béroud, C., Bonithon-Kopp, C., Claustres, M., Robinson, P.N., Adѐs, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G., Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123 (2009), 391–398.
-
(2009)
Pediatrics
, vol.123
, pp. 391-398
-
-
Faivre, L.1
Masurel-Paulet, A.2
Collod-Béroud, G.3
Callewaert, B.L.4
Child, A.H.5
Stheneur, C.6
Binquet, C.7
Gautier, E.8
Chevallier, B.9
Huet, F.10
Loeys, B.L.11
Arbustini, E.12
Mayer, K.13
Arslan-Kirchner, M.14
Kiotsekoglou, A.15
Comeglio, P.16
Grasso, M.17
Halliday, D.J.18
Béroud, C.19
Bonithon-Kopp, C.20
Claustres, M.21
Robinson, P.N.22
Adѐs, L.23
De Backer, J.24
Coucke, P.25
Francke, U.26
De Paepe, A.27
Boileau, C.28
Jondeau, G.29
more..
-
38
-
-
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, M.A., Tynan, K., Brenn, T., Liu, W., Aoyama, T., Gasner, C., Miller, D.C., Furthmayr, H., 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 (1995), 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
-
39
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer, P.A., Dietz, H.C., Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8 (1999), 1893–1900.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
40
-
-
80053171792
-
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
-
Furtado, L.V., Wooderchak-Donahue, W., Rope, A.F., Yetman, A.T., Lewis, T., Plant, P., Bayrak-Toydemir, P., Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. BMC Med. Genet., 12, 2011, 119.
-
(2011)
BMC Med. Genet.
, vol.12
, pp. 119
-
-
Furtado, L.V.1
Wooderchak-Donahue, W.2
Rope, A.F.3
Yetman, A.T.4
Lewis, T.5
Plant, P.6
Bayrak-Toydemir, P.7
-
41
-
-
84858826597
-
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis
-
Gabriel, L.A., Wang, L.W., Bader, H., Ho, J.C., Majors, A.K., Hollyfield, J.G., Traboulsi, E.I., Apte, S.S., ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Invest. Ophthalmol. Vis. Sci. 53 (2012), 461–469.
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 461-469
-
-
Gabriel, L.A.1
Wang, L.W.2
Bader, H.3
Ho, J.C.4
Majors, A.K.5
Hollyfield, J.G.6
Traboulsi, E.I.7
Apte, S.S.8
-
42
-
-
84898916447
-
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy
-
Garg, A., Xing, C., De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. Am. J. Med. Genet. A 164A (2014), 1341–1345.
-
(2014)
Am. J. Med. Genet. A
, vol.164A
, pp. 1341-1345
-
-
Garg, A.1
Xing, C.2
-
43
-
-
84887408112
-
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma
-
Gerber, E.E., Gallo, E.M., Fontana, S.C., Davis, E.C., Wigley, F.M., Huso, D.L., Dietz, H.C., Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature 503 (2013), 126–130.
-
(2013)
Nature
, vol.503
, pp. 126-130
-
-
Gerber, E.E.1
Gallo, E.M.2
Fontana, S.C.3
Davis, E.C.4
Wigley, F.M.5
Huso, D.L.6
Dietz, H.C.7
-
44
-
-
0023019066
-
The major antigen of elastin-associated microfibrils is a 31-kDa glycoprotein
-
Gibson, M.A., Hughes, J.L., Fanning, J.C., Cleary, E.G., The major antigen of elastin-associated microfibrils is a 31-kDa glycoprotein. J. Biol. Chem. 261 (1986), 11429–11436.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 11429-11436
-
-
Gibson, M.A.1
Hughes, J.L.2
Fanning, J.C.3
Cleary, E.G.4
-
45
-
-
84898803550
-
An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
-
Gillis, E., Kempers, M., Salemink, S., Timmermans, J., Cheriex, E.C., Bekkers, S.C., Fransen, E., De Die-Smulders, C.E., Loeys, B.L., Van Laer, L., An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?. Hum. Mutat. 35 (2014), 571–574.
-
(2014)
Hum. Mutat.
, vol.35
, pp. 571-574
-
-
Gillis, E.1
Kempers, M.2
Salemink, S.3
Timmermans, J.4
Cheriex, E.C.5
Bekkers, S.C.6
Fransen, E.7
De Die-Smulders, C.E.8
Loeys, B.L.9
Van Laer, L.10
-
46
-
-
22244455397
-
Role of hyperhomocysteinemia in aortic disease
-
Giusti, B., Marcucci, R., Lapini, I., Sestini, I., Lenti, M., Yacoub, M., Pepe, G., Role of hyperhomocysteinemia in aortic disease. Cell. Mol. Biol. 50 (2004), 945–952.
-
(2004)
Cell. Mol. Biol.
, vol.50
, pp. 945-952
-
-
Giusti, B.1
Marcucci, R.2
Lapini, I.3
Sestini, I.4
Lenti, M.5
Yacoub, M.6
Pepe, G.7
-
47
-
-
0029860747
-
Identification and characterization of an eight-cysteine repeat of the latent transforming growth factor-beta binding protein-1 that mediates bonding to the latent transforming growth factor-beta1
-
Gleizes, P.E., Beavis, R.C., Mazzieri, R., Shen, B., Rifkin, D.B., Identification and characterization of an eight-cysteine repeat of the latent transforming growth factor-beta binding protein-1 that mediates bonding to the latent transforming growth factor-beta1. J. Biol. Chem. 271 (1996), 29891–29896.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 29891-29896
-
-
Gleizes, P.E.1
Beavis, R.C.2
Mazzieri, R.3
Shen, B.4
Rifkin, D.B.5
-
48
-
-
23044515502
-
The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix
-
Gregory, K.E., Ono, R.N., Charbonneau, N.L., Kuo, C.L., Keene, D.R., Bӓchinger, H.P., Sakai, L.Y., The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix. J. Biol. Chem. 280 (2005), 27970–27980.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 27970-27980
-
-
Gregory, K.E.1
Ono, R.N.2
Charbonneau, N.L.3
Kuo, C.L.4
Keene, D.R.5
Bӓchinger, H.P.6
Sakai, L.Y.7
-
49
-
-
0035876860
-
FBN1 exon 2 splicing error in a patient with Marfan syndrome
-
Guo, D., Tan, F.K., Cantu, A., Plon, S.E., Milewicz, D.M., FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am. J. Med. Genet. 101 (2001), 130–134.
-
(2001)
Am. J. Med. Genet.
, vol.101
, pp. 130-134
-
-
Guo, D.1
Tan, F.K.2
Cantu, A.3
Plon, S.E.4
Milewicz, D.M.5
-
50
-
-
18244366671
-
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
-
Gupta, P.A., Putnam, E.A., Carmical, S.G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S.A., Chen, E., Delome, C.V., Thong, M.K., Adѐs, L.C., Milewicz, D.M., Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum. Mutat. 19 (2002), 39–48.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 39-48
-
-
Gupta, P.A.1
Putnam, E.A.2
Carmical, S.G.3
Kaitila, I.4
Steinmann, B.5
Child, A.6
Danesino, C.7
Metcalfe, K.8
Berry, S.A.9
Chen, E.10
Delome, C.V.11
Thong, M.K.12
Adѐs, L.C.13
Milewicz, D.M.14
-
51
-
-
33645672459
-
Losartan, an AT-1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Habashi, J.P., Judge, D.P., Holm, T.M., Cohn, R.D., Loeys, B.L., Cooper, T.K., Myers, L., Klein, E.C., Liu, G., Calvi, C., Podowski, M., Neptune, E.R., Halushka, M.K., Bedja, D., Gabrielson, K., Rifkin, D.B., Carta, L., Ramirez, F., Huso, D.L., Dietz, H.C., Losartan, an AT-1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312 (2006), 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..
-
52
-
-
3142673750
-
MAGP-2 has multiple binding regions on fibrillins and has a covalent periodic association with fibrillin-containing microfibrils
-
Hanssen, E., Hew, F.H., Moore, E., Gibson, M.A., MAGP-2 has multiple binding regions on fibrillins and has a covalent periodic association with fibrillin-containing microfibrils. J. Biol. Chem. 279 (2004), 29185–29194.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 29185-29194
-
-
Hanssen, E.1
Hew, F.H.2
Moore, E.3
Gibson, M.A.4
-
53
-
-
0024469726
-
Extracellular matrix, cell skeletons, and embryonic development
-
Hay, E.D., Extracellular matrix, cell skeletons, and embryonic development. Am. J. Med. Genet. 34 (1989), 14–29.
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 14-29
-
-
Hay, E.D.1
-
54
-
-
79951809483
-
The clinical spectrum of complete FBN1 allele deletions
-
Hilhorst-Hofstee, Y., Hamel, B.C., Verheij, J.B., Rijlaarsdam, M.E., Mancini, G.M., Cobben, J.M., Giroth, C., Ruivenkamp, C.A., Hansson, K.B., Timmermans, J., Moll, H.A., Breuning, M.H., Pals, G., The clinical spectrum of complete FBN1 allele deletions. Eur. J. Hum. Genet. 19 (2011), 247–252.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 247-252
-
-
Hilhorst-Hofstee, Y.1
Hamel, B.C.2
Verheij, J.B.3
Rijlaarsdam, M.E.4
Mancini, G.M.5
Cobben, J.M.6
Giroth, C.7
Ruivenkamp, C.A.8
Hansson, K.B.9
Timmermans, J.10
Moll, H.A.11
Breuning, M.H.12
Pals, G.13
-
55
-
-
34247501749
-
LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein
-
Hirani, R., Hanssen, E., Gibson, M.A., LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix Biol. 26 (2007), 213–223.
-
(2007)
Matrix Biol.
, vol.26
, pp. 213-223
-
-
Hirani, R.1
Hanssen, E.2
Gibson, M.A.3
-
56
-
-
0025335330
-
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
-
Hollister, D.W., Godfrey, M., Sakai, L.Y., Pyeritz, R.E., Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 323 (1990), 152–159.
-
(1990)
N. Engl. J. Med.
, vol.323
, pp. 152-159
-
-
Hollister, D.W.1
Godfrey, M.2
Sakai, L.Y.3
Pyeritz, R.E.4
-
57
-
-
84900298561
-
Cell biology. Dysfunctional mechanosensing in aneurysms
-
Humphrey, J.D., Milewicz, D.M., Tellides, G., Schwartz, M.A., Cell biology. Dysfunctional mechanosensing in aneurysms. Science 344 (2014), 477–479.
-
(2014)
Science
, vol.344
, pp. 477-479
-
-
Humphrey, J.D.1
Milewicz, D.M.2
Tellides, G.3
Schwartz, M.A.4
-
58
-
-
84930211518
-
Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections
-
Humphrey, J.D., Schwartz, M.A., Tellides, G., Milewicz, D.M., Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections. Circ. Res. 116 (2015), 1448–1461.
-
(2015)
Circ. Res.
, vol.116
, pp. 1448-1461
-
-
Humphrey, J.D.1
Schwartz, M.A.2
Tellides, G.3
Milewicz, D.M.4
-
59
-
-
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, D.P., Jefferson, A., Dietz, H.C., Firth, H., Handford, P.A., Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?. Hum. Mol. Genet. 12 (2003), 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
-
60
-
-
0037462678
-
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
-
Isogai, Z., Ono, R.N., Ushiro, S., Keene, D.R., Chen, Y., Mazzieri, R., Charbonneau, N.L., Reinhardt, D.P., Rifkin, D.B., Sakai, L.Y., Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J. Biol. Chem. 278 (2003), 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
-
61
-
-
4043070821
-
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
-
Judge, D.P., Biery, N.J., Keene, D.R., Geubtner, J., Myers, L., Huso, D.L., Sakai, L.Y., Dietz, H.C., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J. Clin. Invest. 114 (2004), 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
-
62
-
-
0025018011
-
Location on chromosome 15 of the gene defect causing Marfan syndrome
-
Kainulainen, K., Pulkkinen, L., Savolainen, A., Kaitila, I., Peltonen, L., Location on chromosome 15 of the gene defect causing Marfan syndrome. N. Engl. J. Med. 323 (1990), 935–939.
-
(1990)
N. Engl. J. Med.
, vol.323
, pp. 935-939
-
-
Kainulainen, K.1
Pulkkinen, L.2
Savolainen, A.3
Kaitila, I.4
Peltonen, L.5
-
63
-
-
0028150713
-
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype
-
Karttunen, L., Raghunath, M., Lӧnnqvist, L., Peltonen, L., A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am. J. Hum. Genet., 1994, 1083–1091.
-
(1994)
Am. J. Hum. Genet.
, pp. 1083-1091
-
-
Karttunen, L.1
Raghunath, M.2
Lӧnnqvist, L.3
Peltonen, L.4
-
64
-
-
44649182369
-
Medical management of Marfan syndrome
-
Keane, M.G., Pyeritz, R.E., Medical management of Marfan syndrome. Circulation 117 (2008), 2802–2813.
-
(2008)
Circulation
, vol.117
, pp. 2802-2813
-
-
Keane, M.G.1
Pyeritz, R.E.2
-
65
-
-
0026029066
-
Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils
-
Keene, D.R., Maddox, B.K., Kuo, H.J., Sakai, L.Y., Glanville, R.W., Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils. J. Histochem. Cytochem. 39 (1991), 441–449.
-
(1991)
J. Histochem. Cytochem.
, vol.39
, pp. 441-449
-
-
Keene, D.R.1
Maddox, B.K.2
Kuo, H.J.3
Sakai, L.Y.4
Glanville, R.W.5
-
66
-
-
33947526687
-
Effects of fibrillin-1 degradation on microfibril ultrastructure
-
Kuo, C.L., Isogai, Z., Keene, D.R., Hazeki, N., Ono, R.N., Sengle, G., Bӓchinger, H.P., Sakai, L.Y., Effects of fibrillin-1 degradation on microfibril ultrastructure. J. Biol. Chem. 282 (2007), 4007–4020.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 4007-4020
-
-
Kuo, C.L.1
Isogai, Z.2
Keene, D.R.3
Hazeki, N.4
Ono, R.N.5
Sengle, G.6
Bӓchinger, H.P.7
Sakai, L.Y.8
-
67
-
-
79955753992
-
ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts
-
Kutz, W.E., Wang, L.W., Bader, H.L., Majors, A.K., Iwata, K., Traboulsi, E.I., Sakai, L.Y., Keene, D.R., Apte, S.S., ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J. Biol. Chem. 286 (2011), 17156–17167.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 17156-17167
-
-
Kutz, W.E.1
Wang, L.W.2
Bader, H.L.3
Majors, A.K.4
Iwata, K.5
Traboulsi, E.I.6
Sakai, L.Y.7
Keene, D.R.8
Apte, S.S.9
-
68
-
-
84915756479
-
Atenolol versus losartan in children and young adults with Marfan's syndrome
-
Lacro, R.V., Dietz, H.C., Sleeper, L.A., Yetman, A.T., Bradley, T.J., Colan, S.D., Pearson, G.D., Selamet Tierney, E.S., Levine, J.C., Atz, A.M., Benson, D.W., Braverman, A.C., Chen, S., De Backer, J., Gelb, B.D., Grossfeld, P.D., Klein, G.L., Lai, W.W., Liou, A., Loeys, B.L., Markham, L.W., Olson, A.K., Paridon, S.M., Pemberton, V.L., Pierpont, M.E., Pyeritz, R.E., Radojewski, E., Roman, M.J., Sharkey, A.M., Stylianou, M.P., Wechsler, S.B., Young, L.T., Mahony, L., Pediatric Heart Network Investigators, Atenolol versus losartan in children and young adults with Marfan's syndrome. N. Engl. J. Med. 371 (2014), 2061–2071.
-
(2014)
N. Engl. J. Med.
, vol.371
, pp. 2061-2071
-
-
Lacro, R.V.1
Dietz, H.C.2
Sleeper, L.A.3
Yetman, A.T.4
Bradley, T.J.5
Colan, S.D.6
Pearson, G.D.7
Selamet Tierney, E.S.8
Levine, J.C.9
Atz, A.M.10
Benson, D.W.11
Braverman, A.C.12
Chen, S.13
De Backer, J.14
Gelb, B.D.15
Grossfeld, P.D.16
Klein, G.L.17
Lai, W.W.18
Liou, A.19
Loeys, B.L.20
Markham, L.W.21
Olson, A.K.22
Paridon, S.M.23
Pemberton, V.L.24
Pierpont, M.E.25
Pyeritz, R.E.26
Radojewski, E.27
Roman, M.J.28
Sharkey, A.M.29
Stylianou, M.P.30
Wechsler, S.B.31
Young, L.T.32
Mahony, L.33
Pediatric Heart Network Investigators34
more..
-
69
-
-
84864053461
-
From tall to short: the role of TGFβ signaling in growth and its disorders
-
Le Goff, C., Cormier-Daire, V., From tall to short: the role of TGFβ signaling in growth and its disorders. Am. J. Med. Genet. C Semin. Med. Genet. 160C (2012), 145–153.
-
(2012)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.160C
, pp. 145-153
-
-
Le Goff, C.1
Cormier-Daire, V.2
-
70
-
-
50449084307
-
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
-
Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L.W., Perrot, C., Crow, Y.J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D.S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S.S., Cormier-Daire, V., ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat. Genet. 40 (2008), 1119–1123.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1119-1123
-
-
Le Goff, C.1
Morice-Picard, F.2
Dagoneau, N.3
Wang, L.W.4
Perrot, C.5
Crow, Y.J.6
Bauer, F.7
Flori, E.8
Prost-Squarcioni, C.9
Krakow, D.10
Ge, G.11
Greenspan, D.S.12
Bonnet, D.13
Le Merrer, M.14
Munnich, A.15
Apte, S.S.16
Cormier-Daire, V.17
-
71
-
-
80051549516
-
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
-
Le Goff, C., Mahaut, C., Wang, L.W., Allali, S., Abhyankar, A., Jensen, S., Zylberberg, L., Collod-Bѐroud, G., Bonnet, D., Alanay, Y., Brady, A.F., Cordier, M.P., Devriendt, K., Genevieve, D., Kiper, P.O., Kitoh, H., Krakow, D., Lynch, S.A., Le Merrer, M., Mégarbane, A., Mortier, G., Odent, S., Polak, M., Rohrbach, M., Sillence, D., Stolte-Dijkstra, I., Superti-Furga, A., Rimoin, D.L., Topouchian, V., Unger, S., Zabel, B., Bole-Feysot, C., Nitschke, P., Handford, P., Casanova, J.L., Boileau, C., Apte, S.S., Munnich, A., Cormier-Daire, V., Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am. J. Hum. Genet. 89 (2011), 7–14.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 7-14
-
-
Le Goff, C.1
Mahaut, C.2
Wang, L.W.3
Allali, S.4
Abhyankar, A.5
Jensen, S.6
Zylberberg, L.7
Collod-Bѐroud, G.8
Bonnet, D.9
Alanay, Y.10
Brady, A.F.11
Cordier, M.P.12
Devriendt, K.13
Genevieve, D.14
Kiper, P.O.15
Kitoh, H.16
Krakow, D.17
Lynch, S.A.18
Le Merrer, M.19
Mégarbane, A.20
Mortier, G.21
Odent, S.22
Polak, M.23
Rohrbach, M.24
Sillence, D.25
Stolte-Dijkstra, I.26
Superti-Furga, A.27
Rimoin, D.L.28
Topouchian, V.29
Unger, S.30
Zabel, B.31
Bole-Feysot, C.32
Nitschke, P.33
Handford, P.34
Casanova, J.L.35
Boileau, C.36
Apte, S.S.37
Munnich, A.38
Cormier-Daire, V.39
more..
-
72
-
-
84655163944
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
-
Le Goff, C., Mahaut, C., Abhyankar, A., Le Goff, W., Serre, V., Afenjar, A., Destrée, A., di Rocco, M., Héron, D., Jacquemont, S., Marlin, S., Simon, M., Tolmie, J., Verloes, A., Casanova, J.L., Munnich, A., Cormier-Daire, V., Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat. Genet. 44 (2011), 85–88.
-
(2011)
Nat. Genet.
, vol.44
, pp. 85-88
-
-
Le Goff, C.1
Mahaut, C.2
Abhyankar, A.3
Le Goff, W.4
Serre, V.5
Afenjar, A.6
Destrée, A.7
di Rocco, M.8
Héron, D.9
Jacquemont, S.10
Marlin, S.11
Simon, M.12
Tolmie, J.13
Verloes, A.14
Casanova, J.L.15
Munnich, A.16
Cormier-Daire, V.17
-
73
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
-
Lee, B., Godfrey, M., Vitale, E., Hori, H., Mattei, M.G., Sarfarazi, M., Tsipouras, P., Ramirez, F., Hollister, D.W., Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352 (1991), 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
-
74
-
-
84893861413
-
Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis
-
Li, W., Li, Q., Jiao, Y., Qin, L., Ali, R., Zhou, J., Ferruzzi, J., Kim, R.W., Geirsson, A., Dietz, H.C., Offermanns, S., Humphrey, J.D., Tellides, G., Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. J. Clin. Invest. 124 (2014), 755–767.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 755-767
-
-
Li, W.1
Li, Q.2
Jiao, Y.3
Qin, L.4
Ali, R.5
Zhou, J.6
Ferruzzi, J.7
Kim, R.W.8
Geirsson, A.9
Dietz, H.C.10
Offermanns, S.11
Humphrey, J.D.12
Tellides, G.13
-
75
-
-
78649772950
-
A new mouse model for Marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression
-
Lima, B.L., Santos, E.J., Fernandes, G.R., Merkel, C., Mello, M.R., Gomes, J.P., Soukoyan, M., Kerkis, A., Massironi, S.M., Visintin, J.A., Pereira, L.V., A new mouse model for Marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression. PLoS One, 5, 2010, e14136.
-
(2010)
PLoS One
, vol.5
, pp. e14136
-
-
Lima, B.L.1
Santos, E.J.2
Fernandes, G.R.3
Merkel, C.4
Mello, M.R.5
Gomes, J.P.6
Soukoyan, M.7
Kerkis, A.8
Massironi, S.M.9
Visintin, J.A.10
Pereira, L.V.11
-
76
-
-
84864415173
-
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
-
Lindsay, M.E., Schepers, D., Bolar, N.A., Doyle, J.J., Gallo, E., Fert-Bober, J., Kempers, M.J., Fishman, E.K., Chen, Y., Myers, L., Bjeda, D., Oswald, G., Elias, A.F., Levy, H.P., Anderlid, B.M., Yang, M.H., Bongers, E.M., Timmermans, J., Braverman, A.C., Canham, N., Mortier, G.R., Brunner, H.G., Byers, P.H., Van Eyk, J., Van Laer, L., Dietz, H.C., Loeys, B.L., Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat. Genet. 44 (2012), 922–927.
-
(2012)
Nat. Genet.
, vol.44
, pp. 922-927
-
-
Lindsay, M.E.1
Schepers, D.2
Bolar, N.A.3
Doyle, J.J.4
Gallo, E.5
Fert-Bober, J.6
Kempers, M.J.7
Fishman, E.K.8
Chen, Y.9
Myers, L.10
Bjeda, D.11
Oswald, G.12
Elias, A.F.13
Levy, H.P.14
Anderlid, B.M.15
Yang, M.H.16
Bongers, E.M.17
Timmermans, J.18
Braverman, A.C.19
Canham, N.20
Mortier, G.R.21
Brunner, H.G.22
Byers, P.H.23
Van Eyk, J.24
Van Laer, L.25
Dietz, H.C.26
Loeys, B.L.27
more..
-
77
-
-
0029797761
-
-
Liu, W., Qian, C., Comeau, K., Brenn, T., Furthmayr, H., Francke, U., Hum. Mol. Genet. 5 (1996), 1581–1587.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1581-1587
-
-
Liu, W.1
Qian, C.2
Comeau, K.3
Brenn, T.4
Furthmayr, H.5
Francke, U.6
-
78
-
-
0003002602
-
Multi-exon deletions of the FBN1 gene in Marfan syndrome
-
Liu, W., Schrijver, I., Brenn, T., Furthmayr, H., Francke, U., Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med. Genet., 2, 2001, 11.
-
(2001)
BMC Med. Genet.
, vol.2
, pp. 11
-
-
Liu, W.1
Schrijver, I.2
Brenn, T.3
Furthmayr, H.4
Francke, U.5
-
79
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys, B.L., Chen, J., Neptune, E.R., Judge, D.P., Podowski, M., Holm, T., Meyers, J., Leitch, C.C., Katsanis, N., Sharifi, N., Xu, F.L., Myers, L.A., Spevak, P.J., Cameron, D.E., De Backer, J., Hellemans, J., Chen, Y., Davis, E.C., Webb, C.L., Kress, W., Coucke, P., Rifkin, D.B., De Paepe, A.M., Dietz, H.C., A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37 (2005), 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..
-
80
-
-
77952974791
-
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome
-
Loeys, B.L., Gerber, E.E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., McConnell, V., Chillakuri, C.R., Macaya, D., Coucke, P.J., De Paepe, A., Judge, D.P., Wigley, F., Davis, E.C., Mardon, H.J., Handford, P., Keene, D.R., Sakai, L.Y., Dietz, H.C., Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci. Transl. Med., 2, 2010, 23ra20.
-
(2010)
Sci. Transl. Med.
, vol.2
, pp. 23ra20
-
-
Loeys, B.L.1
Gerber, E.E.2
Riegert-Johnson, D.3
Iqbal, S.4
Whiteman, P.5
McConnell, V.6
Chillakuri, C.R.7
Macaya, D.8
Coucke, P.J.9
De Paepe, A.10
Judge, D.P.11
Wigley, F.12
Davis, E.C.13
Mardon, H.J.14
Handford, P.15
Keene, D.R.16
Sakai, L.Y.17
Dietz, H.C.18
-
81
-
-
0024849648
-
Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin
-
Maddox, B.K., Sakai, L.Y., Keene, D.R., Glanville, R.W., Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin. J. Biol. Chem. 264 (1989), 21381–21385.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 21381-21385
-
-
Maddox, B.K.1
Sakai, L.Y.2
Keene, D.R.3
Glanville, R.W.4
-
82
-
-
0026002215
-
Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.
-
Magenis, R.E., Maslen, C.L., Smith, L., Allen, L., Sakai, L.Y., Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics 11 (1991), 346–351.
-
(1991)
Genomics
, vol.11
, pp. 346-351
-
-
Magenis, R.E.1
Maslen, C.L.2
Smith, L.3
Allen, L.4
Sakai, L.Y.5
-
83
-
-
84887138632
-
Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation
-
Marshall, L.M., Carlson, E.J., O'Malley, J., Snyder, C.K., Charbonneau, N.L., Hayflick, S.J., Coselli, J.S., Lemaire, S.A., Sakai, L.Y., Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. Circ. Res. 113 (2013), 1159–1168.
-
(2013)
Circ. Res.
, vol.113
, pp. 1159-1168
-
-
Marshall, L.M.1
Carlson, E.J.2
O'Malley, J.3
Snyder, C.K.4
Charbonneau, N.L.5
Hayflick, S.J.6
Coselli, J.S.7
Lemaire, S.A.8
Sakai, L.Y.9
-
84
-
-
0025862134
-
Partial sequence of a candidate gene for the Marfan syndrome
-
Maslen, C.L., Corson, G.M., Maddox, B.K., Glanville, R.W., Sakai, L.Y., Partial sequence of a candidate gene for the Marfan syndrome. Nature 352 (1991), 334–337.
-
(1991)
Nature
, vol.352
, pp. 334-337
-
-
Maslen, C.L.1
Corson, G.M.2
Maddox, B.K.3
Glanville, R.W.4
Sakai, L.Y.5
-
85
-
-
34447263560
-
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
-
Mátyás, G., Alonso, S., Patrignani, A., Marti, M., Arnold, E., Magyar, I., Henggeler, C., Carrel, T., Steinmann, B., Berger, W., Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum. Genet. 122 (2007), 23–32.
-
(2007)
Hum. Genet.
, vol.122
, pp. 23-32
-
-
Mátyás, G.1
Alonso, S.2
Patrignani, A.3
Marti, M.4
Arnold, E.5
Magyar, I.6
Henggeler, C.7
Carrel, T.8
Steinmann, B.9
Berger, W.10
-
86
-
-
0003613907
-
The Weill–Marchesani syndrome
-
V.A. McKusick fourth ed. CV Mosby Company St. Louis, MO
-
McKusick, V.A., The Weill–Marchesani syndrome. McKusick, V.A., (eds.) Heritable Disorders Of Connective Tissue, fourth ed., 1972, CV Mosby Company, St. Louis, MO, 282–291.
-
(1972)
Heritable Disorders Of Connective Tissue
, pp. 282-291
-
-
McKusick, V.A.1
-
87
-
-
84925432612
-
Structure of bone morphogenetic protein 9 procomplex
-
Mi, L.Z., Brown, C.T., Gao, Y., Tian, Y., Le, V.Q., Walz, T., Springer, T.A., Structure of bone morphogenetic protein 9 procomplex. Proc. Natl. Acad. Sci. U. S. A. 112 (2015), 3710–3715.
-
(2015)
Proc. Natl. Acad. Sci. U. S. A.
, vol.112
, pp. 3710-3715
-
-
Mi, L.Z.1
Brown, C.T.2
Gao, Y.3
Tian, Y.4
Le, V.Q.5
Walz, T.6
Springer, T.A.7
-
88
-
-
84940197893
-
Marfan sartan: a randomized, double-blind placebo-controlled trial
-
Milleron, O., Arnoult, F., Ropers, J., Aegerter, P., Detaint, D., Delorme, G., Attias, D., Tubach, F., Dupuis-Girod, S., Plauchu, H., Barthelet, M., Sassolas, F., Pangaud, N., Naudion, S., Thomas-Chabaneix, J., Dulac, Y., Edouard, T., Wolf, J.E., Faivre, L., Odent, S., Basquin, A., Habib, G., Collignon, P., Boileau, C., Jondeau, G., Marfan sartan: a randomized, double-blind placebo-controlled trial. Eur. Heart J. 36 (2015), 2160–2166.
-
(2015)
Eur. Heart J.
, vol.36
, pp. 2160-2166
-
-
Milleron, O.1
Arnoult, F.2
Ropers, J.3
Aegerter, P.4
Detaint, D.5
Delorme, G.6
Attias, D.7
Tubach, F.8
Dupuis-Girod, S.9
Plauchu, H.10
Barthelet, M.11
Sassolas, F.12
Pangaud, N.13
Naudion, S.14
Thomas-Chabaneix, J.15
Dulac, Y.16
Edouard, T.17
Wolf, J.E.18
Faivre, L.19
Odent, S.20
Basquin, A.21
Habib, G.22
Collignon, P.23
Boileau, C.24
Jondeau, G.25
more..
-
89
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
Mizuguchi, T., Collod-Béroud, 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., Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36 (2004), 855–860.
-
(2004)
Nat. Genet.
, vol.36
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Béroud, 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..
-
90
-
-
71849096809
-
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
-
Morales, J., Al-Sharif, L., Khalil, D.S., Shinwari, J.M., Bavi, P., Al-Mahrougi, R.A., Al-Rajhi, A., Alkuraya, F.S., Meyer, B.F., Al Tassan, N., Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am. J. Hum. Genet. 85 (2009), 558–568.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 558-568
-
-
Morales, J.1
Al-Sharif, L.2
Khalil, D.S.3
Shinwari, J.M.4
Bavi, P.5
Al-Mahrougi, R.A.6
Al-Rajhi, A.7
Alkuraya, F.S.8
Meyer, B.F.9
Al Tassan, N.10
-
91
-
-
0015314585
-
Parental age effects on the occurrence of new mutations for the Marfan syndrome
-
Murdoch, J.L., Walker, B.A., McKusick, V.A., Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann. Hum. Genet. 35 (1972), 331–336.
-
(1972)
Ann. Hum. Genet.
, vol.35
, pp. 331-336
-
-
Murdoch, J.L.1
Walker, B.A.2
McKusick, V.A.3
-
92
-
-
0035958015
-
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
-
Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O., Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 8 (2001), 85–95.
-
(2001)
DNA Res.
, vol.8
, pp. 85-95
-
-
Nagase, T.1
Nakayama, M.2
Nakajima, D.3
Kikuno, R.4
Ohara, O.5
-
93
-
-
0037373277
-
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
-
Neptune, E.R., Frischmeyer, P.A., Arking, D.E., Myers, L., Bunton, T.E., Gayraud, B., Ramirez, F., Sakai, L.Y., Dietz, H.C., Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33 (2003), 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
-
94
-
-
67650529853
-
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites
-
Ono, R.N., Sengle, G., Charbonneau, N.L., Carlberg, V., Bӓchinger, H.P., Sasaki, T., Lee-Arteaga, S., Zilberberg, L., Rifkin, D.B., Ramirez, F., Chu, M.L., Sakai, L.Y., Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. J. Biol. Chem. 284 (2009), 16872–16881.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 16872-16881
-
-
Ono, R.N.1
Sengle, G.2
Charbonneau, N.L.3
Carlberg, V.4
Bӓchinger, H.P.5
Sasaki, T.6
Lee-Arteaga, S.7
Zilberberg, L.8
Rifkin, D.B.9
Ramirez, F.10
Chu, M.L.11
Sakai, L.Y.12
-
95
-
-
0034117930
-
Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype–phenotype correlation
-
Palz, M., Tiecke, F., Booms, P., Gӧldner, B., Rosenberg, T., Fuchs, J., Skovby, F., Schumacher, H., Kaufmann, U.C., von Kodolitsch, Y., Nienaber, C.A., Leitner, C., Katzke, S., Vetter, B., Hagemeier, C., Robinson, P.N., Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype–phenotype correlation. Am. J. Med. Genet. 91 (2000), 212–221.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 212-221
-
-
Palz, M.1
Tiecke, F.2
Booms, P.3
Gӧldner, B.4
Rosenberg, T.5
Fuchs, J.6
Skovby, F.7
Schumacher, H.8
Kaufmann, U.C.9
von Kodolitsch, Y.10
Nienaber, C.A.11
Leitner, C.12
Katzke, S.13
Vetter, B.14
Hagemeier, C.15
Robinson, P.N.16
-
96
-
-
0031252407
-
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
-
Pereira, L., Andrikopoulos, K., Tian, J., Lee, S.Y., Keene, D.R., Ono, R., Reinhardt, D.P., Sakai, L.Y., Biery, N.J., Bunton, T., Dietz, H.C., Ramirez, F., Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat. Genet. 17 (1997), 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
-
97
-
-
13044266360
-
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1
-
Pereira, L., Lee, S.Y., Gayraud, B., Andrikopoulos, K., Shapiro, S.D., Bunton, T., Biery, N.J., Dietz, H.C., Sakai, L.Y., Ramirez, F., Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc. Natl. Acad. Sci. 96 (1999), 3819–3823.
-
(1999)
Proc. Natl. Acad. Sci.
, 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
-
98
-
-
0034050792
-
The Marfan syndrome
-
Pyeritz, R.E., The Marfan syndrome. Annu. Rev. Med. 51 (2000), 481–510.
-
(2000)
Annu. Rev. Med.
, vol.51
, pp. 481-510
-
-
Pyeritz, R.E.1
-
99
-
-
84989925001
-
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
-
(Dec. 1, Epub ahead of print)
-
Regalado, E.S., Guo, D.C., Santos-Cortez, R.L., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., University of Washington Center for Mendelian Genomics, Milewicz, D.M., Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin. Genet., 2015 (Dec. 1, Epub ahead of print).
-
(2015)
Clin. Genet.
-
-
Regalado, E.S.1
Guo, D.C.2
Santos-Cortez, R.L.3
Hostetler, E.4
Bensend, T.A.5
Pannu, H.6
Estrera, A.7
Safi, H.8
Mitchell, A.L.9
Evans, J.P.10
Leal, S.M.11
Bamshad, M.12
Shendure, J.13
Nickerson, D.A.14
University of Washington Center for Mendelian Genomics15
Milewicz, D.M.16
-
100
-
-
0029761338
-
Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues
-
Reinhardt, D.P., Sasaki, T., Dzamba, B.J., Keene, D.R., Chu, M.L., Gӧhring, W., Timpl, R., Sakai, L.Y., Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues. J. Biol. Chem. 271 (1996), 19489–19496.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 19489-19496
-
-
Reinhardt, D.P.1
Sasaki, T.2
Dzamba, B.J.3
Keene, D.R.4
Chu, M.L.5
Gӧhring, W.6
Timpl, R.7
Sakai, L.Y.8
-
101
-
-
0029945989
-
Fibrillin-1: organization in microfibrils and structural properties
-
Reinhardt, D.P., Keene, D.R., Corson, G.M., Pӧschl, E., Bӓchinger, H.P., Gambee, J.E., Sakai, L.Y., Fibrillin-1: organization in microfibrils and structural properties. J. Mol. Biol. 258 (1996), 104–116.
-
(1996)
J. Mol. Biol.
, vol.258
, pp. 104-116
-
-
Reinhardt, D.P.1
Keene, D.R.2
Corson, G.M.3
Pӧschl, E.4
Bӓchinger, H.P.5
Gambee, J.E.6
Sakai, L.Y.7
-
102
-
-
0034695559
-
Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1
-
Reinhardt, D.P., Gambee, J.E., Ono, R.N., Bӓchinger, H.P., Sakai, L.Y., Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1. J. Biol. Chem. 275 (2000), 2205–2210.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 2205-2210
-
-
Reinhardt, D.P.1
Gambee, J.E.2
Ono, R.N.3
Bӓchinger, H.P.4
Sakai, L.Y.5
-
103
-
-
14844302670
-
Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability
-
Rifkin, D.B., Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability. J. Biol. Chem. 280 (2005), 7409–7412.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 7409-7412
-
-
Rifkin, D.B.1
-
104
-
-
33745737894
-
The molecular genetics of Marfan syndrome and related disorders
-
Robinson, P.N., Arteaga-Solis, E., Baldock, C., Collod-Béroud, G., Booms, P., De Paepe, A., Dietz, H.C., Guo, G., Handford, P.A., Judge, D.P., Kielty, C.M., Loeys, B., Milewicz, D.M., Ney, A., Ramirez, F., Reinhardt, D.P., Tiedemann, K., Whiteman, P., Godfrey, M., The molecular genetics of Marfan syndrome and related disorders. J. Med. Genet. 43 (2006), 769–787.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 769-787
-
-
Robinson, P.N.1
Arteaga-Solis, E.2
Baldock, C.3
Collod-Béroud, G.4
Booms, P.5
De Paepe, A.6
Dietz, H.C.7
Guo, G.8
Handford, P.A.9
Judge, D.P.10
Kielty, C.M.11
Loeys, B.12
Milewicz, D.M.13
Ney, A.14
Ramirez, F.15
Reinhardt, D.P.16
Tiedemann, K.17
Whiteman, P.18
Godfrey, M.19
-
105
-
-
0014465980
-
The elastic fiber. I. The separation and partial characterization of its macromolecular components
-
Ross, R., Bornstein, P., The elastic fiber. I. The separation and partial characterization of its macromolecular components. J. Cell Biol. 40 (1969), 366–381.
-
(1969)
J. Cell Biol.
, vol.40
, pp. 366-381
-
-
Ross, R.1
Bornstein, P.2
-
106
-
-
0033840527
-
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta
-
Saharinen, J., Keski-Oja, J., Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol. Biol. Cell 11 (2000), 2691–2704.
-
(2000)
Mol. Biol. Cell
, vol.11
, pp. 2691-2704
-
-
Saharinen, J.1
Keski-Oja, J.2
-
107
-
-
0030058699
-
Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1
-
Saharinen, J., Taipale, J., Keski-Oja, J., Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1. EMBO J. 15 (1996), 245–253.
-
(1996)
EMBO J.
, vol.15
, pp. 245-253
-
-
Saharinen, J.1
Taipale, J.2
Keski-Oja, J.3
-
108
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
Sakai, L.Y., Keene, D.R., Engvall, E., Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 103 (1986), 2499–24509.
-
(1986)
J. Cell Biol.
, vol.103
, pp. 2499-24509
-
-
Sakai, L.Y.1
Keene, D.R.2
Engvall, E.3
-
109
-
-
0026315446
-
Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils
-
Sakai, L.Y., Keene, D.R., Glanville, R.W., Bӓchinger, H.P., Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J. Biol. Chem. 266 (1991), 14763–14770.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 14763-14770
-
-
Sakai, L.Y.1
Keene, D.R.2
Glanville, R.W.3
Bӓchinger, H.P.4
-
110
-
-
0033361884
-
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotype
-
Schrijver, I., Liu, W., Brenn, T., Furthmayr, H., Francke, U., Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotype. Am. J. Hum. Genet. 65 (1999), 1007–1020.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1007-1020
-
-
Schrijver, I.1
Liu, W.2
Brenn, T.3
Furthmayr, H.4
Francke, U.5
-
111
-
-
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., Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am. J. Hum. Genet. 71 (2002), 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
-
112
-
-
46649104796
-
Targeting of bone morphogenetic protein growth factor complexes to fibrillin
-
Sengle, G., Charbonneau, N.L., Ono, R.N., Sasaki, T., Alvarez, J., Keene, D.R., Bӓchinger, H.P., Sakai, L.Y., Targeting of bone morphogenetic protein growth factor complexes to fibrillin. J. Biol. Chem. 283 (2008), 13874–13888.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 13874-13888
-
-
Sengle, G.1
Charbonneau, N.L.2
Ono, R.N.3
Sasaki, T.4
Alvarez, J.5
Keene, D.R.6
Bӓchinger, H.P.7
Sakai, L.Y.8
-
113
-
-
48449097540
-
A new model for growth factor activation: type II receptors compete with the prodomain for BMP-7
-
Sengle, G., Ono, R.N., Lyons, K.M., Bӓchinger, H.P., Sakai, L.Y., A new model for growth factor activation: type II receptors compete with the prodomain for BMP-7. J. Mol. Biol. 381 (2008), 1025–1039.
-
(2008)
J. Mol. Biol.
, vol.381
, pp. 1025-1039
-
-
Sengle, G.1
Ono, R.N.2
Lyons, K.M.3
Bӓchinger, H.P.4
Sakai, L.Y.5
-
114
-
-
79953144610
-
Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability
-
Sengle, G., Ono, R.N., Sasaki, T., Sakai, L.Y., Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability. J. Biol. Chem. 286 (2011), 5087–5099.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 5087-5099
-
-
Sengle, G.1
Ono, R.N.2
Sasaki, T.3
Sakai, L.Y.4
-
115
-
-
84857494860
-
Microenvironmental regulation by fibrillin-1
-
Sengle, G., Tsutsui, K., Keene, D.R., Tufa, S.F., Carlson, E.J., Charbonneau, N.L., Ono, R.N., Sasaki, T., Wirtz, M.K., Samples, J.R., Fessler, L.I., Fessler, J.H., Sekiguchi, K., Hayflick, S.J., Sakai, L.Y., Microenvironmental regulation by fibrillin-1. PLoS Genet., 8, 2012, e1002425.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002425
-
-
Sengle, G.1
Tsutsui, K.2
Keene, D.R.3
Tufa, S.F.4
Carlson, E.J.5
Charbonneau, N.L.6
Ono, R.N.7
Sasaki, T.8
Wirtz, M.K.9
Samples, J.R.10
Fessler, L.I.11
Fessler, J.H.12
Sekiguchi, K.13
Hayflick, S.J.14
Sakai, L.Y.15
-
116
-
-
84937791785
-
Abnormal activation of BMP signaling causes myopathy in Fbn2 null mice
-
Sengle, G., Carlberg, V., Tufa, S.F., Charbonneau, N.L., Smaldone, S., Carlson, E.J., Ramirez, F., Keene, D.R., Sakai, L.Y., Abnormal activation of BMP signaling causes myopathy in Fbn2 null mice. PLoS Genet., 11, 2015, e1005340.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1005340
-
-
Sengle, G.1
Carlberg, V.2
Tufa, S.F.3
Charbonneau, N.L.4
Smaldone, S.5
Carlson, E.J.6
Ramirez, F.7
Keene, D.R.8
Sakai, L.Y.9
-
117
-
-
33846392697
-
Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome
-
Singh, K.K., Elligsen, D., Liersch, R., Schubert, S., Pabst, B., Arslan-Kirchner, M., Schmidtke, J., Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J. Mol. Cell. Cardiol. 42 (2007), 352–356.
-
(2007)
J. Mol. Cell. Cardiol.
, vol.42
, pp. 352-356
-
-
Singh, K.K.1
Elligsen, D.2
Liersch, R.3
Schubert, S.4
Pabst, B.5
Arslan-Kirchner, M.6
Schmidtke, J.7
-
118
-
-
0029941445
-
A tandem duplication within the fibrillin-1 gene is associated with the mouse tight skin mutation
-
Siracusa, L.D., McGrath, R., Ma, Q., Moskow, J.J., Manne, J., Christner, P.J., Buchberg, A.M., Jimenez, S.A., A tandem duplication within the fibrillin-1 gene is associated with the mouse tight skin mutation. Genome Res. 6 (1996), 300–313.
-
(1996)
Genome Res.
, vol.6
, pp. 300-313
-
-
Siracusa, L.D.1
McGrath, R.2
Ma, Q.3
Moskow, J.J.4
Manne, J.5
Christner, P.J.6
Buchberg, A.M.7
Jimenez, S.A.8
-
119
-
-
30944451715
-
The early history of TGF-beta, and a brief glimpse of its future
-
Sporn, M.B., The early history of TGF-beta, and a brief glimpse of its future. Cytokine Growth Factor Rev. 17 (2006), 3–7.
-
(2006)
Cytokine Growth Factor Rev.
, vol.17
, pp. 3-7
-
-
Sporn, M.B.1
-
120
-
-
34147098091
-
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
-
Tekin, M., Cengiz, F.B., Ayberkin, E., Kendirli, T., Fitoz, S., Tutar, E., Ciftçi, E., Conba, A., Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am. J. Med. Genet. A 143A (2007), 875–880.
-
(2007)
Am. J. Med. Genet. A
, vol.143A
, pp. 875-880
-
-
Tekin, M.1
Cengiz, F.B.2
Ayberkin, E.3
Kendirli, T.4
Fitoz, S.5
Tutar, E.6
Ciftçi, E.7
Conba, A.8
-
121
-
-
77951179306
-
ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation
-
Tsutsui, K., Manabe, R., Yamada, T., Nakano, I., Oguri, Y., Keene, D.R., Sengle, G., Sakai, L.Y., Sekiguchi, K., ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation. J. Biol. Chem. 285 (2010), 4870–4882.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 4870-4882
-
-
Tsutsui, K.1
Manabe, R.2
Yamada, T.3
Nakano, I.4
Oguri, Y.5
Keene, D.R.6
Sengle, G.7
Sakai, L.Y.8
Sekiguchi, K.9
-
122
-
-
79251602475
-
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
-
van de Laar, I.M., Odenburg, R.A., Pals, G., Roos-Hesselink, J.W., de Graaf, B.M., Verhagen, J.M., Hoedemaekers, Y.M., Willemsen, R., Severijnen, L.A., Venselaar, H., Vriend, G., Pattynama, P.M., Collée, M., Majoor-Krakauer, D., Poldermans, D., Frohn-Mulder, I.M., Micha, D., Timmermans, J., Hilhorst-Hofstee, Y., Bierma-Zeinstra, S.M., Willems, P.J., Kros, J.M., Oei, E.H., Oostra, B.A., Wessels, M.W., Bertoli-Avella, A.M., Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43 (2011), 121–126.
-
(2011)
Nat. Genet.
, vol.43
, pp. 121-126
-
-
van de Laar, I.M.1
Odenburg, R.A.2
Pals, G.3
Roos-Hesselink, J.W.4
de Graaf, B.M.5
Verhagen, J.M.6
Hoedemaekers, Y.M.7
Willemsen, R.8
Severijnen, L.A.9
Venselaar, H.10
Vriend, G.11
Pattynama, P.M.12
Collée, M.13
Majoor-Krakauer, D.14
Poldermans, D.15
Frohn-Mulder, I.M.16
Micha, D.17
Timmermans, J.18
Hilhorst-Hofstee, Y.19
Bierma-Zeinstra, S.M.20
Willems, P.J.21
Kros, J.M.22
Oei, E.H.23
Oostra, B.A.24
Wessels, M.W.25
Bertoli-Avella, A.M.26
more..
-
123
-
-
58149108897
-
Compound-heterozygous Marfan syndrome
-
Van Dijk, F.S., Hamel, B.C., Hilhorst-Hofstee, Y., Mulder, B.J., Timmermans, J., Pals, G., Cobben, J.M., Compound-heterozygous Marfan syndrome. Eur. J. Med. Genet. 52 (2009), 1–5.
-
(2009)
Eur. J. Med. Genet.
, vol.52
, pp. 1-5
-
-
Van Dijk, F.S.1
Hamel, B.C.2
Hilhorst-Hofstee, Y.3
Mulder, B.J.4
Timmermans, J.5
Pals, G.6
Cobben, J.M.7
-
124
-
-
0029748318
-
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome
-
Wang, M., Kishnani, P., Decker-Phillips, M., Kahler, S.G., Chen, Y.T., Godfrey, M., Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J. Med. Genet. 33 (1996), 760–763.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 760-763
-
-
Wang, M.1
Kishnani, P.2
Decker-Phillips, M.3
Kahler, S.G.4
Chen, Y.T.5
Godfrey, M.6
-
125
-
-
84937977490
-
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
-
Wooderchak-Donahue, W., VanSant-Webb, C., Tvrdik, T., Plant, P., Lewis, T., Stocks, J., Raney, J.A., Meyers, L., Berg, A., Rope, A.F., Yetman, A.T., Bleyl, S.B., Mesley, R., Bull, D.A., Collins, R.T., Ojeda, M.M., Roberts, A., Lacro, R., Woerner, A., Stoler, J., Bayrak-Toydemir, P., Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am. J. Med. Genet. A 167A (2015), 1747–1757.
-
(2015)
Am. J. Med. Genet. A
, vol.167A
, pp. 1747-1757
-
-
Wooderchak-Donahue, W.1
VanSant-Webb, C.2
Tvrdik, T.3
Plant, P.4
Lewis, T.5
Stocks, J.6
Raney, J.A.7
Meyers, L.8
Berg, A.9
Rope, A.F.10
Yetman, A.T.11
Bleyl, S.B.12
Mesley, R.13
Bull, D.A.14
Collins, R.T.15
Ojeda, M.M.16
Roberts, A.17
Lacro, R.18
Woerner, A.19
Stoler, J.20
Bayrak-Toydemir, P.21
more..
-
126
-
-
0028267099
-
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices
-
Zhang, H., Apfelroth, S.D., Hu, W., Davis, E.C., Sanguineti, C., Bonadio, J., Mecham, R.P., Ramirez, F., Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J. Cell Biol. 124 (1994), 855–863.
-
(1994)
J. Cell Biol.
, vol.124
, pp. 855-863
-
-
Zhang, H.1
Apfelroth, S.D.2
Hu, W.3
Davis, E.C.4
Sanguineti, C.5
Bonadio, J.6
Mecham, R.P.7
Ramirez, F.8
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