188 related articles for article (PubMed ID: 24349050)
1. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.
Aydin A; Adsay BA; Sheikhzadeh S; Keyser B; Rybczynski M; Sondermann C; Detter C; Steven D; Robinson PN; Berger J; Schmidtke J; Blankenberg S; Willems S; von Kodolitsch Y; Hoffmann BA
PLoS One; 2013; 8(12):e81281. PubMed ID: 24349050
[TBL] [Abstract][Full Text] [Related]
2. 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
Eur J Hum Genet; 2001 Jan; 9(1):13-21. PubMed ID: 11175294
[TBL] [Abstract][Full Text] [Related]
3. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D; Stheneur C; Roy C; Collod-Béroud G; Detaint D; Faivre L; Delrue MA; Cohen L; Francannet C; Béroud C; Claustres M; Iserin F; Khau Van Kien P; Lacombe D; Le Merrer M; Lyonnet S; Odent S; Plauchu H; Rio M; Rossi A; Sidi D; Steg PG; Ravaud P; Boileau C; Jondeau G
Circulation; 2009 Dec; 120(25):2541-9. PubMed ID: 19996017
[TBL] [Abstract][Full Text] [Related]
4. FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D; Tan FK; Cantu A; Plon SE; Milewicz DM
Am J Med Genet; 2001 Jun; 101(2):130-4. PubMed ID: 11391655
[TBL] [Abstract][Full Text] [Related]
5. Heart rate turbulence and deceleration capacity for risk prediction of serious arrhythmic events in Marfan syndrome.
Schaeffer BN; Rybczynski M; Sheikhzadeh S; Akbulak RÖ; Moser J; Jularic M; Schreiber D; Daubmann A; Willems S; von Kodolitsch Y; Hoffmann BA
Clin Res Cardiol; 2015 Dec; 104(12):1054-63. PubMed ID: 26033711
[TBL] [Abstract][Full Text] [Related]
6. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Putnam EA; Cho M; Zinn AB; Towbin JA; Byers PH; Milewicz DM
Am J Med Genet; 1996 Mar; 62(3):233-42. PubMed ID: 8882780
[TBL] [Abstract][Full Text] [Related]
7. 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 EC; Bekkers SC; Fransen E; De Die-Smulders CE; Loeys BL; Van Laer L
Hum Mutat; 2014 May; 35(5):571-4. PubMed ID: 24610719
[TBL] [Abstract][Full Text] [Related]
8. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.
Booms P; Cisler J; Mathews KR; Godfrey M; Tiecke F; Kaufmann UC; Vetter U; Hagemeier C; Robinson PN
Clin Genet; 1999 Feb; 55(2):110-7. PubMed ID: 10189088
[TBL] [Abstract][Full Text] [Related]
9. 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
Arch Intern Med; 2001 Nov; 161(20):2447-54. PubMed ID: 11700157
[TBL] [Abstract][Full Text] [Related]
10. 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
Hum Mutat; 2002 Sep; 20(3):197-208. PubMed ID: 12203992
[TBL] [Abstract][Full Text] [Related]
11. FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
Kühne K; Keyser B; Groene EF; Sheikhzadeh S; Detter C; Lorenzen V; Hillebrand M; Bernhardt AM; Hoffmann B; Mir TS; Robinson PN; Berger J; Reichenspurner H; von Kodolitsch Y; Rybczynski M
Int J Cardiol; 2013 Sep; 168(2):953-9. PubMed ID: 23176764
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C; Porteous ME; Brock DJ
Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075
[TBL] [Abstract][Full Text] [Related]
13. 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
Am J Med Genet; 2000 Mar; 91(3):212-21. PubMed ID: 10756346
[TBL] [Abstract][Full Text] [Related]
14. Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
Aalberts JJ; van Tintelen JP; Meijboom LJ; Polko A; Jongbloed JD; van der Wal H; Pals G; Osinga J; Timmermans J; de Backer J; Bakker MK; van Veldhuisen DJ; Hofstra RM; Mulder BJ; van den Berg MP
Gene; 2014 Jan; 534(1):40-3. PubMed ID: 24161884
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.
Díaz de Bustamante A; Ruiz-Casares E; Darnaude MT; Perucho T; Martínez-Quesada G
Rev Esp Cardiol (Engl Ed); 2012 Apr; 65(4):380-1. PubMed ID: 21840105
[No Abstract] [Full Text] [Related]
16. A prospective study of the effect of I.V. pentamidine therapy on ventricular arrhythmias and QTc prolongation in HIV-infected patients.
Girgis I; Gualberti J; Langan L; Malek S; Mustaciuolo V; Costantino T; McGinn TG
Chest; 1997 Sep; 112(3):646-53. PubMed ID: 9315796
[TBL] [Abstract][Full Text] [Related]
17. Severe Marfan syndrome due to FBN1 exon deletions.
Blyth M; Foulds N; Turner C; Bunyan D
Am J Med Genet A; 2008 May; 146A(10):1320-4. PubMed ID: 18412115
[TBL] [Abstract][Full Text] [Related]
18. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S; Khan MI; Akhtar F; Weiss MM; Islam F; Ali M; Qamar R; Maugeri A; den Hollander AI
Mol Vis; 2012; 18():1918-26. PubMed ID: 22876116
[TBL] [Abstract][Full Text] [Related]
20. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L; Amundsen SS; Barøy T; Rand-Hendriksen S; Geiran O; Frengen E; Paus B
BMC Med Genet; 2015 Dec; 16():113. PubMed ID: 26684006
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]