BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 31098894)

  • 1. Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
    Li J; Lu C; Wu W; Liu Y; Wang R; Si N; Meng X; Zhang S; Zhang X
    Sci China Life Sci; 2019 Dec; 62(12):1630-1637. PubMed ID: 31098894
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
    Yang H; Luo M; Chen Q; Fu Y; Zhang J; Qian X; Sun X; Fan Y; Zhou Z; Chang Q
    Clin Chim Acta; 2016 Aug; 459():30-35. PubMed ID: 27234404
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.
    De Cario R; Sticchi E; Lucarini L; Attanasio M; Nistri S; Marcucci R; Pepe G; Giusti B
    J Vasc Surg; 2018 Jul; 68(1):225-233.e5. PubMed ID: 28847661
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.
    Cao D; Xu Z; Gu S; Li K; Bao X; Zhou Y; Yin D; Chen J; Wang Y
    Gene; 2019 Mar; 689():51-55. PubMed ID: 30552983
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations.
    Gao L; Tian T; Zhou X; Fan L; Wang R; Wu H
    Int J Cardiol; 2019 Oct; 293():186-191. PubMed ID: 31279664
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
    Ma M; Li Z; Wang DW; Wei X
    Mol Med Rep; 2016 Jul; 14(1):151-8. PubMed ID: 27175573
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
    Stengl R; Bors A; Ágg B; Pólos M; Matyas G; Molnár MJ; Fekete B; Csabán D; Andrikovics H; Merkely B; Radovits T; Szabolcs Z; Benke K
    Orphanet J Rare Dis; 2020 Oct; 15(1):290. PubMed ID: 33059708
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
    Mannucci L; Luciano S; Salehi LB; Gigante L; Conte C; Longo G; Ferradini V; Piumelli N; Brancati F; Ruvolo G; Novelli G; Sangiuolo F
    Clin Chim Acta; 2020 Feb; 501():154-164. PubMed ID: 31730815
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
    Hernándiz A; Zúñiga A; Valera F; Domingo D; Ontoria-Oviedo I; Marí JF; Román JA; Calvo I; Insa B; Gómez R; Cervera JV; Miralles M; Montero JA; Martínez-Dolz L; Sepúlveda P
    Clin Genet; 2021 Feb; 99(2):269-280. PubMed ID: 33174221
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
    Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
    Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
    Kim JA; Jang MA; Jang SY; Kim DK; Kim YG; Kim JW; Park TK; Jang JH
    J Clin Lab Anal; 2024 Jan; 38(1-2):e25009. PubMed ID: 38234087
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
    Turner CL; Emery H; Collins AL; Howarth RJ; Yearwood CM; Cross E; Duncan PJ; Bunyan DJ; Harvey JF; Foulds NC
    Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ectopia lentis phenotypes and the FBN1 gene.
    Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
    Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ectopia lentis as the presenting and primary feature in Marfan syndrome.
    Zadeh N; Bernstein JA; Niemi AK; Dugan S; Kwan A; Liang D; Hyland JC; Hoyme HE; Hudgins L; Manning MA
    Am J Med Genet A; 2011 Nov; 155A(11):2661-8. PubMed ID: 21932315
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.
    Guo D; Jin G; Zhou Y; Zhang X; Cao Q; Lian Z; Guo Y; Zheng D
    Exp Eye Res; 2021 Jun; 207():108570. PubMed ID: 33844962
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.