BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

498 related articles for article (PubMed ID: 7493032)

  • 1. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
    Putnam EA; Zhang H; Ramirez F; Milewicz DM
    Nat Genet; 1995 Dec; 11(4):456-8. PubMed ID: 7493032
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
    Park ES; Putnam EA; Chitayat D; Child A; Milewicz DM
    Am J Med Genet; 1998 Jul; 78(4):350-5. PubMed ID: 9714438
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
    Gupta PA; Putnam EA; Carmical SG; Kaitila I; Steinmann B; Child A; Danesino C; Metcalfe K; Berry SA; Chen E; Delorme CV; Thong MK; Adès LC; Milewicz DM
    Hum Mutat; 2002 Jan; 19(1):39-48. PubMed ID: 11754102
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
    Belleh S; Zhou G; Wang M; Der Kaloustian VM; Pagon RA; Godfrey M
    Am J Med Genet; 2000 May; 92(1):7-12. PubMed ID: 10797416
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
    Chaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ
    Hum Mol Genet; 2001 Apr; 10(8):835-43. PubMed ID: 11285249
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
    Dietz HC; Saraiva JM; Pyeritz RE; Cutting GR; Francomano CA
    Hum Mutat; 1992; 1(5):366-74. PubMed ID: 1301946
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.
    Dietz HC; Pyeritz RE
    Hum Mol Genet; 1995; 4 Spec No():1799-809. PubMed ID: 8541880
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
    Babcock D; Gasner C; Francke U; Maslen C
    Hum Genet; 1998 Jul; 103(1):22-8. PubMed ID: 9737771
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
    Putnam EA; Park ES; Aalfs CM; Hennekam RC; Milewicz DM
    Am J Hum Genet; 1997 Apr; 60(4):818-27. PubMed ID: 9106527
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.
    Yagi H; Hatano M; Takeda N; Harada S; Suzuki Y; Taniguchi Y; Shintani Y; Morita H; Kanamori N; Aoyama T; Watanabe M; Manabe I; Akazawa H; Kinugawa K; Komuro I
    Intern Med; 2015; 54(10):1237-41. PubMed ID: 25986263
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
    Callewaert BL; Loeys BL; Ficcadenti A; Vermeer S; Landgren M; Kroes HY; Yaron Y; Pope M; Foulds N; Boute O; Galán F; Kingston H; Van der Aa N; Salcedo I; Swinkels ME; Wallgren-Pettersson C; Gabrielli O; De Backer J; Coucke PJ; De Paepe AM
    Hum Mutat; 2009 Mar; 30(3):334-41. PubMed ID: 19006240
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
    Nishimura A; Sakai H; Ikegawa S; Kitoh H; Haga N; Ishikiriyama S; Nagai T; Takada F; Ohata T; Tanaka F; Kamasaki H; Saitsu H; Mizuguchi T; Matsumoto N
    Am J Med Genet A; 2007 Apr; 143A(7):694-8. PubMed ID: 17345643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.
    Kölble N; Wisser J; Babcock D; Maslen C; Huch R; Steinmann B
    Ultrasound Obstet Gynecol; 2002 Oct; 20(4):395-9. PubMed ID: 12383326
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The molecular genetics of Marfan syndrome and related microfibrillopathies.
    Robinson PN; Godfrey M
    J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
    Lee B; Godfrey M; Vitale E; Hori H; Mattei MG; Sarfarazi M; Tsipouras P; Ramirez F; Hollister DW
    Nature; 1991 Jul; 352(6333):330-4. PubMed ID: 1852206
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
    Maslen C; Babcock D; Raghunath M; Steinmann B
    Am J Hum Genet; 1997 Jun; 60(6):1389-98. PubMed ID: 9199560
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
    Frédéric MY; Monino C; Marschall C; Hamroun D; Faivre L; Jondeau G; Klein HG; Neumann L; Gautier E; Binquet C; Maslen C; Godfrey M; Gupta P; Milewicz D; Boileau C; Claustres M; Béroud C; Collod-Béroud G
    Hum Mutat; 2009 Feb; 30(2):181-90. PubMed ID: 18767143
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
    Liu W; Zhao N; Li XF; Wang H; Sui Y; Lu YP; Feng WH; Ma C; Han WT; Jiang M
    FEBS Open Bio; 2015; 5():163-6. PubMed ID: 25834781
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
    Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
    Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
    Chikumi H; Yamamoto T; Ohta Y; Nanba E; Nagata K; Ninomiya H; Narasaki K; Katoh T; Hisatome I; Ono K; Tanaka Y; Kuroda H; Ohgi S
    J Hum Genet; 2000; 45(2):115-8. PubMed ID: 10721679
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.