BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 20803651)

  • 1. Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
    Barnett CP; Wilson GJ; Chiasson DA; Gross GJ; Hinek A; Hawkins C; Chitayat D
    Am J Med Genet A; 2010 Sep; 152A(9):2409-12. PubMed ID: 20803651
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
    Kochilas L; Gundogan F; Atalay M; Bliss JM; Vatta M; Pena LS; Abuelo D
    J Perinatol; 2008 Apr; 28(4):303-5. PubMed ID: 18379569
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.
    Elçioglu NH; Akalin F; Elçioglu M; Comeglio P; Child AH
    Genet Couns; 2004; 15(2):219-25. PubMed ID: 15287423
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
    Hayward C; Brock DJ
    Hum Mutat; 1997; 10(6):415-23. PubMed ID: 9401003
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.
    Bresters D; Nikkels PG; Meijboom EJ; Hoorntje TM; Pals G; Beemer FA
    Acta Paediatr; 1999 Jan; 88(1):98-101. PubMed ID: 10090557
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.
    Shinawi M; Boileau C; Brik R; Mandel H; Bentur L
    Pediatr Pulmonol; 2005 Apr; 39(4):374-8. PubMed ID: 15666366
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene.
    Derbent M; Anuk D; Tarcan A; Varan B; Gurakan B; Tokel K
    Clin Dysmorphol; 2008 Apr; 17(2):127-128. PubMed ID: 18388785
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.
    Liu W; Qian C; Francke U
    Nat Genet; 1997 Aug; 16(4):328-9. PubMed ID: 9241263
    [No Abstract]   [Full Text] [Related]  

  • 9. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
    Sutherell J; Zarate Y; Tinkle BT; Markham LW; Cripe LH; Hyland JC; Witte D; Hopkin RJ; Hinton RB
    Congenit Heart Dis; 2007; 2(5):342-6. PubMed ID: 18377451
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.
    Weidenbach M; Brenner R; Rantamäki T; Redel DA
    Pediatr Cardiol; 1999; 20(5):382-5. PubMed ID: 10441700
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
    Wang M; Wang JY; Cisler J; Imaizumi K; Burton BK; Jones MC; Lamberti JJ; Godfrey M
    Hum Mutat; 1997; 9(4):359-62. PubMed ID: 9101298
    [No Abstract]   [Full Text] [Related]  

  • 14. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.
    Lo IF; Wong RM; Lam FW; Tong TM; Lam ST
    Chin Med J (Engl); 2001 May; 114(5):473-6. PubMed ID: 11780406
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
    Kilpatrick MW; Lembessis P; Rose E; Tsipouras P
    Hum Hered; 1999 Jun; 49(3):176-7. PubMed ID: 10364683
    [No Abstract]   [Full Text] [Related]  

  • 16. Fibrillin (FBN1) mutations in Marfan syndrome.
    Hayward C; Keston M; Brock DJ; Dietz HC
    Hum Mutat; 1992; 1(1):79. PubMed ID: 1301195
    [No Abstract]   [Full Text] [Related]  

  • 17. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
    Hayward C; Rae AL; Porteous ME; Logie LJ; Brock DJ
    Hum Mol Genet; 1994 Feb; 3(2):373-5. PubMed ID: 8004112
    [No Abstract]   [Full Text] [Related]  

  • 18. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.
    Booms P; Cisler J; Mathews KR; Godfrey M; Tiecke F; Kaufmann UC; Vetter U; Hagemeier C; Robinson PN
    Clin Genet; 1999 Feb; 55(2):110-7. PubMed ID: 10189088
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Marfan Database (third edition): new mutations and new routines for the software.
    Collod-Béroud G; Béroud C; Ades L; Black C; Boxer M; Brock DJ; Holman KJ; de Paepe A; Francke U; Grau U; Hayward C; Klein HG; Liu W; Nuytinck L; Peltonen L; Alvarez Perez AB; Rantamäki T; Junien C; Boileau C
    Nucleic Acids Res; 1998 Jan; 26(1):229-3. PubMed ID: 9399842
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.
    Karttunen L; Ukkonen T; Kainulainen K; Syvänen AC; Peltonen L
    Hum Mutat; 1998; Suppl 1():S34-7. PubMed ID: 9452033
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.