BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

61 related articles for article (PubMed ID: 17679947)

  • 21. 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]  

  • 22. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
    Sakai LY; Keene DR; Renard M; De Backer J
    Gene; 2016 Oct; 591(1):279-291. PubMed ID: 27437668
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    Hum Mutat; 1997; 10(4):280-9. PubMed ID: 9338581
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic testing of 248 Chinese aortopathy patients using a panel assay.
    Yang H; Luo M; Fu Y; Cao Y; Yin K; Li W; Meng C; Ma Y; Zhang J; Fan Y; Shu C; Chang Q; Zhou Z
    Sci Rep; 2016 Sep; 6():33002. PubMed ID: 27611364
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Rare Variants and Polymorphisms of
    Pan M; Li L; Li Z; Chen S; Li Z; Wang Y; He H; Lin L; Wang H; Liu Q
    Front Genet; 2022; 13():778806. PubMed ID: 35154271
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genotype variant screening and phenotypic analysis of
    Zhou Y; Guo D; Cao Q; Zhang X; Jin G; Zheng D
    Mol Med Rep; 2021 Apr; 23(4):. PubMed ID: 33576469
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
    Bitarafan F; Razmara E; Khodaeian M; Keramatipour M; Kalhor A; Jafarinia E; Garshasbi M
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1274. PubMed ID: 32431097
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
    Reyes-Hernández OD; Palacios-Reyes C; Chávez-Ocaña S; Cortés-Malagón EM; Alonso-Themann PG; Ramos-Cano V; Ramírez-Bello J; Sierra-Martínez M
    BMC Musculoskelet Disord; 2016 Feb; 17():79. PubMed ID: 26875674
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.
    Potter KJ; Creighton S; Armstrong L; Eydoux P; Duncan W; Penny DJ; Fan Y; Gibson WT
    Mol Syndromol; 2013 Mar; 4(3):125-35. PubMed ID: 23653584
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
    Wang WJ; Han P; Zheng J; Hu FY; Zhu Y; Xie JS; Guo J; Zhang Z; Dong J; Zheng GY; Cao H; Liu TS; Fu Q; Sun L; Yang BB; Tian XL
    J Mol Med (Berl); 2013 Jan; 91(1):37-47. PubMed ID: 22772377
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
    Yang G; Chu M; Zhai X; Zhao J
    Mol Vis; 2012; 18():945-50. PubMed ID: 22539873
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
    Li H; Qu W; Meng B; Zhang S; Yang T; Huang S; Yuan H
    Mol Vis; 2012; 18():504-11. PubMed ID: 22393277
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.
    Jin C; Wang Q; Li J; Zhu Y; Shentu X; Yao K
    Mol Vis; 2012; 18():465-70. PubMed ID: 22393272
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
    Villamizar C; Regalado ES; Fadulu VT; Hasham SN; Gupta P; Willing MC; Kuang SQ; Guo D; Muilenburg A; Yee RW; Fan Y; Towbin J; Coselli JS; LeMaire SA; Milewicz DM
    Eur J Med Genet; 2010; 53(2):80-4. PubMed ID: 19941982
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
    Jiang J; Jin C; Wang W; Tang X; Shentu X; Wu R; Wang Y; Xia K; Yao K
    Mol Vis; 2009; 15():38-44. PubMed ID: 19137077
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome.
    Jin C; Yao K; Sun Z; Wu R
    Jpn J Ophthalmol; 2008; 52(6):497-499. PubMed ID: 19089573
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
    Yao K; Jin C; Zhu N; Wang W; Wu R; Jiang J; Shentu X
    Mol Vis; 2008 Jul; 14():1272-6. PubMed ID: 18618005
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
    Deng T; Dong B; Zhang X; Dai H; Li Y
    Mol Vis; 2008 Jun; 14():1229-33. PubMed ID: 18615205
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 4.