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 *

293 related articles for article (PubMed ID: 11748851)

  • 1. Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
    Comeglio P; Evans AL; Brice GW; Child AH
    Hum Mutat; 2001 Dec; 18(6):546-7. PubMed ID: 11748851
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
    Comeglio P; Evans AL; Brice GW; Child AH
    Hum Mutat; 2001 Sep; 18(3):251. PubMed ID: 11524736
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
    Matsukawa R; Iida K; Nakayama M; Mukai T; Okita Y; Ando M; Takamoto S; Nakajima N; Morisaki H; Morisaki T
    Hum Mutat; 2001; 17(1):71-2. PubMed ID: 11139245
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
    Rommel K; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
    Hum Mutat; 2002 Nov; 20(5):406-7. PubMed ID: 12402346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
    Biggin A; Holman K; Brett M; Bennetts B; Adès L
    Hum Mutat; 2004 Jan; 23(1):99. PubMed ID: 14695540
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
    Attanasio M; Lapini I; Evangelisti L; Lucarini L; Giusti B; Porciani M; Fattori R; Anichini C; Abbate R; Gensini G; Pepe G
    Clin Genet; 2008 Jul; 74(1):39-46. PubMed ID: 18435798
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
    Tiecke F; Katzke S; Booms P; Robinson PN; Neumann L; Godfrey M; Mathews KR; Scheuner M; Hinkel GK; Brenner RE; Hövels-Gürich HH; Hagemeier C; Fuchs J; Skovby F; Rosenberg T
    Eur J Hum Genet; 2001 Jan; 9(1):13-21. PubMed ID: 11175294
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
    Mátyás G; De Paepe A; Halliday D; Boileau C; Pals G; Steinmann B
    Hum Mutat; 2002 Apr; 19(4):443-56. PubMed ID: 11933199
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
    Körkkö J; Kaitila I; Lönnqvist L; Peltonen L; Ala-Kokko L
    J Med Genet; 2002 Jan; 39(1):34-41. PubMed ID: 11826022
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [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]  

  • 15. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
    Attanasio M; Pratelli E; Porciani MC; Evangelisti L; Torricelli E; Pellicanò G; Abbate R; Gensini GF; Pepe G
    Eur J Med Genet; 2013 Jul; 56(7):356-60. PubMed ID: 23684891
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
    Liu WO; Oefner PJ; Qian C; Odom RS; Francke U
    Genet Test; 1997-1998; 1(4):237-42. PubMed ID: 10464652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
    Tjeldhorn L; Amundsen SS; Barøy T; Rand-Hendriksen S; Geiran O; Frengen E; Paus B
    BMC Med Genet; 2015 Dec; 16():113. PubMed ID: 26684006
    [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. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
    Katzke S; Booms P; Tiecke F; Palz M; Pletschacher A; Türkmen S; Neumann LM; Pregla R; Leitner C; Schramm C; Lorenz P; Hagemeier C; Fuchs J; Skovby F; Rosenberg T; Robinson PN
    Hum Mutat; 2002 Sep; 20(3):197-208. PubMed ID: 12203992
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.