These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 34946863)

  • 1. Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
    Farooqi N; Metherell LA; Schrauwen I; Acharya A; Khan Q; Nouel Saied LM; Ali Y; El-Serehy HA; Jalil F; Leal SM
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. [Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].
    Rong J; Dong S; Wang C; He S; Luo J; Li M; Deng Q; Yan M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1107-1110. PubMed ID: 31703137
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
    Gong B; Yang L; Wang Q; Ye Z; Guo X; Yang C; Hao F; Shi Y; Huang Y; Qu C; Yang Z
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00594. PubMed ID: 30838813
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing.
    Xiao X; Huang Y; Zhang J; Cao Y; Zhang M
    Funct Integr Genomics; 2023 Mar; 23(2):114. PubMed ID: 37000337
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.
    Niu Y; Huang S; Wang Z; Xu P; Wang L; Li J; Gao M; Gao X; Gao Y
    BMC Med Genet; 2020 Oct; 21(1):211. PubMed ID: 33087052
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.
    Wu Y; Sun H; Wang J; Wang X; Gong M; Han L; He Y; Zhang H
    Biosci Rep; 2020 Dec; 40(12):. PubMed ID: 33200202
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].
    Zheng Q; Li KL; Dai GL; Xiong D; Yao MY; Chen X; Li YM; Zhang YY; Li HR; Cao Y
    Zhonghua Yi Xue Za Zhi; 2022 Sep; 102(34):2702-2706. PubMed ID: 36096698
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.
    Campens L; Renard M; Trachet B; Segers P; Muino Mosquera L; De Sutter J; Sakai L; De Paepe A; De Backer J
    Pediatr Res; 2015 Sep; 78(3):256-63. PubMed ID: 26042521
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.
    Li Y; Xu J; Chen M; Du B; Li Q; Xing Q; Zhang Y
    Clin Chim Acta; 2016 Sep; 460():102-6. PubMed ID: 27353645
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Accelerated Marfan syndrome model recapitulates established signaling pathways.
    Gensicke NM; Cavanaugh NB; Andersen ND; Huang T; Qian L; Dyle MC; Turek JW
    J Thorac Cardiovasc Surg; 2020 May; 159(5):1719-1726. PubMed ID: 31272746
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
    Regalado ES; Guo DC; Santos-Cortez RL; Hostetler E; Bensend TA; Pannu H; Estrera A; Safi H; Mitchell AL; Evans JP; Leal SM; Bamshad M; Shendure J; Nickerson DA; ; Milewicz DM
    Clin Genet; 2016 Jun; 89(6):719-23. PubMed ID: 26621581
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
    McInerney-Leo AM; West J; Wheeler L; Leo PJ; Summers KM; Anderson L; Brown MA; West M; Duncan EL
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1116. PubMed ID: 31950671
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
    Ergoren MC; Turkgenc B; Teralı K; Rodoplu O; Verstraeten A; Van Laer L; Mocan G; Loeys B; Tetik O; Temel SG
    Connect Tissue Res; 2019 Mar; 60(2):146-154. PubMed ID: 29732924
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Wang JJ; Yu B; Sun Y; Song X; Wang DW; Li Z
    Genes (Basel); 2022 Oct; 13(10):. PubMed ID: 36292727
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.
    Yap WF; Chong HC
    Int J Rheum Dis; 2020 Nov; 23(11):1568-1573. PubMed ID: 32969582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A de novo mutation leading to Marfan syndrome in a case].
    Liang S; Liu L; Qiu X; Liu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):162-165. PubMed ID: 33565072
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.