389 related articles for article (PubMed ID: 24161884)
1. 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]
2. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg; 2009; 71(6):335-71. PubMed ID: 20232788
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Exogenous activation of BMP-2 signaling overcomes TGFβ-mediated inhibition of osteogenesis in Marfan embryonic stem cells and Marfan patient-specific induced pluripotent stem cells.
Quarto N; Li S; Renda A; Longaker MT
Stem Cells; 2012 Dec; 30(12):2709-19. PubMed ID: 23037987
[TBL] [Abstract][Full Text] [Related]
7. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
Attanasio M; Pratelli E; Porciani MC; Evangelisti L; Torricelli E; Pellicanò G; Abbate R; Gensini GF; Pepe G
Eur J Med Genet; 2013 Jul; 56(7):356-60. PubMed ID: 23684891
[TBL] [Abstract][Full Text] [Related]
8. 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
Hum Mutat; 2004 Aug; 24(2):140-6. PubMed ID: 15241795
[TBL] [Abstract][Full Text] [Related]
9. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K; Karck M; Haverich A; von Kodolitsch Y; Rybczynski M; Müller G; Singh KK; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
10. Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.
Abd El Rahman M; Haase D; Rentzsch A; Olchvary J; Schäfers HJ; Henn W; Wagenpfeil S; Abdul-Khaliq H
PLoS One; 2015; 10(4):e0124112. PubMed ID: 25901601
[TBL] [Abstract][Full Text] [Related]
11. [Two gene mutations in fibrillin 1 of Marfan syndrome].
Chen XJ; Wu YA; Chen FW; Chen FL; Huang Y; Huang XL; Ma XN; Chen T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):440-2. PubMed ID: 17680538
[TBL] [Abstract][Full Text] [Related]
12. Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
Furtado LV; Wooderchak-Donahue W; Rope AF; Yetman AT; Lewis T; Plant P; Bayrak-Toydemir P
BMC Med Genet; 2011 Sep; 12():119. PubMed ID: 21936929
[TBL] [Abstract][Full Text] [Related]
13. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E; Grasso M; Ansaldi S; Malattia C; Pilotto A; Porcu E; Disabella E; Marziliano N; Pisani A; Lanzarini L; Mannarino S; Larizza D; Mosconi M; Antoniazzi E; Zoia MC; Meloni G; Magrassi L; Brega A; Bedeschi MF; Torrente I; Mari F; Tavazzi L
Hum Mutat; 2005 Nov; 26(5):494. PubMed ID: 16222657
[TBL] [Abstract][Full Text] [Related]
14. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
15. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A; Holman K; Brett M; Bennetts B; Adès L
Hum Mutat; 2004 Jan; 23(1):99. PubMed ID: 14695540
[TBL] [Abstract][Full Text] [Related]
16. De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L; Khau Van Kien P; Callier P; Ruiz-Pallares N; Baudoin C; Plancke A; Wolf JE; Thauvin-Robinet C; Durand E; Minot D; Dulieu V; Metaizeau JD; Leheup B; Coron F; Bidot S; Huet F; Jondeau G; Boileau C; Claustres M; Mugneret F
Eur J Med Genet; 2010; 53(4):208-12. PubMed ID: 20478419
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome.
Akutsu K; Morisaki H; Okajima T; Yoshimuta T; Tsutsumi Y; Takeshita S; Nonogi H; Ogino H; Higashi M; Morisaki T
Circ J; 2010 May; 74(5):990-7. PubMed ID: 20354336
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Disabella E; Grasso M; Marziliano N; Ansaldi S; Lucchelli C; Porcu E; Tagliani M; Pilotto A; Diegoli M; Lanzarini L; Malattia C; Pelliccia A; Ficcadenti A; Gabrielli O; Arbustini E
Eur J Hum Genet; 2006 Jan; 14(1):34-8. PubMed ID: 16251899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
