-
2
-
-
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. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991; 352:330-4.
-
(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
-
3
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz HC, Cutting CR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-9.
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, C.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
-
4
-
-
0028034039
-
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
-
Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet 1994; 53:65-71.
-
(1994)
Am J Med Genet
, vol.53
, pp. 65-71
-
-
Edwards, M.J.1
Challinor, C.J.2
Colley, P.W.3
Roberts, J.4
Partington, M.W.5
Hollway, G.E.6
Kozman, H.M.7
Mulley, J.C.8
-
5
-
-
0034017021
-
The molecular genetics of Marfan syndrome and related microfibrillopathies
-
Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37:9-25.
-
(2000)
J Med Genet
, vol.37
, pp. 9-25
-
-
Robinson, P.N.1
Godfrey, M.2
-
6
-
-
0036861941
-
Marfan syndrome in the third Millennium
-
Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet 2002; 10:673-81.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 673-681
-
-
Collod-Béroud, G.1
Boileau, C.2
-
8
-
-
0033361884
-
Cysteine sbstitututions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes
-
Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine sbstitututions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65:1007-20.
-
(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
-
9
-
-
1842458445
-
Ectopia Lentis phenotypes and the FBN1 gene
-
Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. Ectopia Lentis phenotypes and the FBN1 gene. Am J Med Genet A 2004; 126A:284-9.
-
(2004)
Am J Med Genet A
, vol.126 A
, pp. 284-289
-
-
Adès, L.C.1
Holman, K.J.2
Brett, M.S.3
Edwards, M.J.4
Bennetts, B.5
-
10
-
-
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, Merrer ML, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003; 40:34-6.
-
(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
Merrer, M.L.7
Collod-Beroud, G.8
Boileau, C.9
Munnich, A.10
Cormier-Daire, V.11
-
11
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80:805-11.
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
Shen, J.2
Splawski, I.3
Atkinson, D.4
Li, Z.5
Robinson, J.L.6
Moss, A.J.7
Towbin, J.A.8
Keating, M.T.9
-
12
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12:17-23.
-
(1996)
Nat Genet
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
Burn, T.C.4
Millholland, J.M.5
VanRaay, T.J.6
Shen, J.7
Timothy, K.W.8
Vincent, G.M.9
de Jager, T.10
Schwartz, P.J.11
Toubin, J.A.12
Moss, A.J.13
Atkinson, D.L.14
Landes, G.M.15
Connors, T.D.16
Keating, M.T.17
-
13
-
-
0036150548
-
Sensitivity of comformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
-
Körkkö J, Kaitila I, Lönnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of comformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet 2002; 39:34-41.
-
(2002)
J Med Genet
, vol.39
, pp. 34-41
-
-
Körkkö, J.1
Kaitila, I.2
Lönnqvist, L.3
Peltonen, L.4
Ala-Kokko, L.5
-
14
-
-
0029052915
-
Fifteen Novel FBN1 Mutations Causing Marfan Syndrome Detected by Heteroduplex Analysis of Genomic Amplicons
-
Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen Novel FBN1 Mutations Causing Marfan Syndrome Detected by Heteroduplex Analysis of Genomic Amplicons. Am J Hum Genet 1995; 57:8-21.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 8-21
-
-
Nijbroek, G.1
Sood, S.2
McIntosh, I.3
Francomano, C.A.4
Bull, E.5
Pereira, L.6
Ramirez, F.7
Pyeritz, R.E.8
Dietz, H.C.9
-
15
-
-
0028345635
-
A novel mutation of the fibrillin gene causing ectopia lentis
-
Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 1994; 19:573-6.
-
(1994)
Genomics
, vol.19
, pp. 573-576
-
-
Lönnqvist, L.1
Child, A.2
Kainulainen, K.3
Davidson, R.4
Puhakka, L.5
Peltonen, L.6
-
16
-
-
0035141446
-
Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
-
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001; 9:13-21.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 13-21
-
-
Tiecke, F.1
Katzke, S.2
Booms, P.3
Robinson, P.N.4
Neumann, L.5
Godfrey, M.6
Mathews, K.R.7
Scheuner, M.8
Hinkel, G.K.9
Brenner, R.E.10
Hövels-Gürich, H.H.11
Hagemeier, C.12
Fuchs, J.13
Skovby, F.14
Rosenberg, T.15
-
17
-
-
0036893786
-
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
-
Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 2002; 86:1359-62.
-
(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
-
18
-
-
34547161310
-
-
Jin C, Yao K, Jiang J, Tang X, Shentu S, Wu R. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis 2007; 13:1280-4.
-
Jin C, Yao K, Jiang J, Tang X, Shentu S, Wu R. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis 2007; 13:1280-4.
-
-
-
-
19
-
-
33744919517
-
Recurrent FBN1 Mutation (R62C) in a Chinese Family with Isolated Ectopia Lentis
-
Yu R, Lai Z, Zhou W, Ti DD, Zhang XN. Recurrent FBN1 Mutation (R62C) in a Chinese Family with Isolated Ectopia Lentis. Am J Ophthalmol 2006; 141:1136-8.
-
(2006)
Am J Ophthalmol
, vol.141
, pp. 1136-1138
-
-
Yu, R.1
Lai, Z.2
Zhou, W.3
Ti, D.D.4
Zhang, X.N.5
-
20
-
-
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, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum Mutat 2002; 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
Türkmen, 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
-
21
-
-
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. 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 2001; 161:2447-54.
-
(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
-
22
-
-
0031965598
-
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype
-
Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Hum Mutat 1998; Suppl 1:S198-200.
-
(1998)
Hum Mutat
, Issue.SUPPL. 1
-
-
Black, C.1
Withers, A.P.2
Gray, J.R.3
Bridges, A.B.4
Craig, A.5
Baty, D.U.6
Boxer, M.7
-
23
-
-
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. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004; 24:140-6.
-
(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
-
24
-
-
0027989283
-
An extra cysteine in one of the non-calcium-binding Epidermal Growth Factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome
-
Ståhl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L. An extra cysteine in one of the non-calcium-binding Epidermal Growth Factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. J Clin Invest 1994; 94:709-13.
-
(1994)
J Clin Invest
, vol.94
, pp. 709-713
-
-
Ståhl-Hallengren, C.1
Ukkonen, T.2
Kainulainen, K.3
Kristofersson, U.4
Saxne, T.5
Tornqvist, K.6
Peltonen, L.7
-
25
-
-
35648947881
-
A recurrent dominant ectopia lentis family of Indian origin
-
Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K. A recurrent dominant ectopia lentis family of Indian origin. Mol Vis 2007; 13:2035-40.
-
(2007)
Mol Vis
, vol.13
, pp. 2035-2040
-
-
Vanita, V.1
Singh, J.R.2
Singh, D.3
Varon, R.4
Robinson, P.N.5
Sperling, K.6
-
26
-
-
0030954731
-
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
-
Hayward C, Porteous ME, Brock DJ. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat 1997; 10:280-9.
-
(1997)
Hum Mutat
, vol.10
, pp. 280-289
-
-
Hayward, C.1
Porteous, M.E.2
Brock, D.J.3
-
27
-
-
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. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 2002; 39:589-93.
-
(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
-
28
-
-
0242534101
-
-
Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C. Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998; 26:229-33.
-
Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C. Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998; 26:229-33.
-
-
-
-
29
-
-
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, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. 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 2000; 91:212-21.
-
(2000)
Am J Med Genet
, vol.91
, pp. 212-221
-
-
Palz, M.1
Tiecke, F.2
Booms, P.3
Göldner, 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
|