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 *

496 related articles for article (PubMed ID: 8882780)

  • 41. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.
    Perez AB; Pereira LV; Brunoni D; Zatz M; Passos-Bueno MR
    Hum Mutat; 1999; 13(1):84. PubMed ID: 10189222
    [TBL] [Abstract][Full Text] [Related]  

  • 42. [Two novel mutations in fibrillin-1 gene of Marfan syndrome].
    Huang X; Wu Y; Chen F; Huang Y; Ma X; Chen T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):562-5. PubMed ID: 15583982
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
    Loeys B; De Backer J; Van Acker P; Wettinck K; Pals G; Nuytinck L; Coucke P; De Paepe A
    Hum Mutat; 2004 Aug; 24(2):140-6. PubMed ID: 15241795
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Two gene mutations in fibrillin 1 of Marfan syndrome].
    Chen XJ; Wu YA; Chen FW; Chen FL; Huang Y; Huang XL; Ma XN; Chen T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):440-2. PubMed ID: 17680538
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.
    Grau U; Klein HG; Detter C; Mair H; Welz A; Seidel D; Reichart B
    Hum Mutat; 1998; 12(2):137. PubMed ID: 10694921
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
    Wang M; Kishnani P; Decker-Phillips M; Kahler SG; Chen YT; Godfrey M
    J Med Genet; 1996 Sep; 33(9):760-3. PubMed ID: 8880577
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
    Chao SC; Chen JS; Tsai CH; Lin JM; Lin YJ; Sun HS
    Clin Genet; 2010 May; 77(5):453-63. PubMed ID: 20132243
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
    Collod-Béroud G; Béroud C; Adès L; Black C; Boxer M; Brock DJ; Godfrey M; Hayward C; Karttunen L; Milewicz D; Peltonen L; Richards RI; Wang M; Junien C; Boileau C
    Nucleic Acids Res; 1997 Jan; 25(1):147-50. PubMed ID: 9016526
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
    Furtado LV; Wooderchak-Donahue W; Rope AF; Yetman AT; Lewis T; Plant P; Bayrak-Toydemir P
    BMC Med Genet; 2011 Sep; 12():119. PubMed ID: 21936929
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
    Faivre L; Masurel-Paulet A; Collod-Béroud G; Callewaert BL; Child AH; Stheneur C; Binquet C; Gautier E; Chevallier B; Huet F; Loeys BL; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Halliday DJ; Béroud C; Bonithon-Kopp C; Claustres M; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
    Pediatrics; 2009 Jan; 123(1):391-8. PubMed ID: 19117906
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
    Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
    Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
    Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
    Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.
    Apitz C; Mackensen-Haen S; Girisch M; Kerst G; Wiegand G; Stuhrmann M; Niethammer K; Behrwind G; Hofbeck M
    Klin Padiatr; 2010 Jul; 222(4):261-3. PubMed ID: 20455198
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
    Dietz HC; McIntosh I; Sakai LY; Corson GM; Chalberg SC; Pyeritz RE; Francomano CA
    Genomics; 1993 Aug; 17(2):468-75. PubMed ID: 8406497
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
    Arbustini E; Grasso M; Ansaldi S; Malattia C; Pilotto A; Porcu E; Disabella E; Marziliano N; Pisani A; Lanzarini L; Mannarino S; Larizza D; Mosconi M; Antoniazzi E; Zoia MC; Meloni G; Magrassi L; Brega A; Bedeschi MF; Torrente I; Mari F; Tavazzi L
    Hum Mutat; 2005 Nov; 26(5):494. PubMed ID: 16222657
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
    Howarth R; Yearwood C; Harvey JF
    Genet Test; 2007; 11(2):146-52. PubMed ID: 17627385
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
    Takenouchi T; Hida M; Sakamoto Y; Torii C; Kosaki R; Takahashi T; Kosaki K
    Am J Med Genet A; 2013 Dec; 161A(12):3057-62. PubMed ID: 24039054
    [TBL] [Abstract][Full Text] [Related]  

  • 59. An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
    Guo DC; Gupta P; Tran-Fadulu V; Guidry TV; Leduc MS; Schaefer FV; Milewicz DM
    J Hum Genet; 2008; 53(11-12):1007-1011. PubMed ID: 18795226
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
    Caputi M; Kendzior RJ; Beemon KL
    Genes Dev; 2002 Jul; 16(14):1754-9. PubMed ID: 12130535
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.